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</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F26000322%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F26000322%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region">
|
||
<button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog">
|
||
<span class="button-label">Display options</span>
|
||
</button>
|
||
|
||
<div class="dropdown" hidden>
|
||
<div class="title">
|
||
Display options
|
||
</div>
|
||
|
||
<div class="content">
|
||
|
||
<div class="format-container">
|
||
<span class="option-label">
|
||
Format
|
||
</span>
|
||
<select name="format" data-initial-value="abstract" aria-label="Display format" id="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 26000322 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 26000322"/>
|
||
<input type="hidden" name="email-subject-hash" value="a0c15d201fc5d609b4781f12c02759f04ad681e6b46d0070f405db12fdda4f4a"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a new collection</label>
|
||
</li>
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_existing">
|
||
<label for="collections-action-panel-existing">Add to an existing collection</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="controls-wrapper">
|
||
<div class="action-panel-control-wrap new-collections-controls">
|
||
<label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label>
|
||
<input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-panel-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="save_share"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection">
|
||
<div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div>
|
||
</div>
|
||
<div class="action-panel-control-wrap existing-collections-controls">
|
||
<label for="collections-action-panel-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label>
|
||
<select id="collections-action-panel-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="save_share"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'">
|
||
</select>
|
||
<div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="add">
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="bibliography-action-panel"
|
||
class="bibliography-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-bibliography-open-panel-enabled="false"
|
||
data-bibliography-open-panel-url-hash="#open-bibliography-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to My Bibliography
|
||
</h3>
|
||
<form id="bibliography-action-panel-form"
|
||
class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-add-to-bibliography-max-amount="100"
|
||
data-add-to-bibliography-batch-size="10"
|
||
data-bibliography-delegates-url="/list-bibliography-delegates/"
|
||
data-add-to-bibliography-url="/add-to-bibliography/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap bibliographies-controls">
|
||
<div class="choice-group">
|
||
<ul class="bibliographies-action-add radio-group-items">
|
||
<li>
|
||
<input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/>
|
||
<label for="my-bibliography">My Bibliography</label>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your delegates due to an error<br>
|
||
<a href="#">Please try again</a>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore>
|
||
Add
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Add to bibliography' panel"
|
||
ref="linksrc=close_bibliography_panel"
|
||
aria-controls="bibliography-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="mybib"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true"
|
||
data-saved-search-open-panel-enabled="false"
|
||
data-saved-search-open-panel-url-hash="#open-saved-search-panel">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your saved search
|
||
</h2>
|
||
|
||
<form id="saved-search-action-panel-form"
|
||
class="saved-search-action-panel-form action-panel-content action-form"
|
||
data-create-saved-search-url="/create-saved-search/"
|
||
data-try-search-terms-url="/try-search-term/"
|
||
data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk">
|
||
Name of saved search:
|
||
</label>
|
||
<input maxlength="200"
|
||
type="text"
|
||
name="saved-search-name"
|
||
id="saved-search-name"
|
||
class="saved-search-name"
|
||
value=""
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-term" class="action-panel-label required-field-asterisk">
|
||
Search terms:
|
||
</label>
|
||
<textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea>
|
||
</div>
|
||
<div class="test-search-term-wrap">
|
||
<a href="#" class="try-search-term">Test search terms</a>
|
||
</div>
|
||
<div class="choice-group action-panel-extra-margin-top">
|
||
<span class="action-panel-label" id="fieldset-label">
|
||
Would you like email updates of new search results?
|
||
</span>
|
||
<fieldset id="saved-search-alert" aria-describedby="fieldset-label">
|
||
<legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend>
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked>
|
||
<label for="saved-search-alert-yes" class="action-panel-label">Yes</label>
|
||
</li>
|
||
<li>
|
||
<input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no">
|
||
<label for="saved-search-alert-no" class="action-panel-label">No</label>
|
||
</li>
|
||
</ul>
|
||
</fieldset>
|
||
</div>
|
||
|
||
<div class="alert-schedule-wrap">
|
||
<div class="action-panel-control-wrap">
|
||
<label class="action-panel-label">
|
||
Email:
|
||
</label>
|
||
<span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span>
|
||
</div>
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="saved-search-frequency" class="action-panel-label">
|
||
Frequency:
|
||
</label>
|
||
<select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency">
|
||
<option value="monthly">Monthly</option>
|
||
<option value="weekly">Weekly</option>
|
||
<option value="daily">Daily</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-monthly-additional">
|
||
<label for="saved-search-monthly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-monthly-on-day" class="no-border-panel-selector">
|
||
<option value="Sunday">The first Sunday</option>
|
||
<option value="Monday">The first Monday</option>
|
||
<option value="Tuesday">The first Tuesday</option>
|
||
<option value="Wednesday">The first Wednesday</option>
|
||
<option value="Thursday">The first Thursday</option>
|
||
<option value="Friday">The first Friday</option>
|
||
<option value="Saturday">The first Saturday</option>
|
||
<option value="day">The first day</option>
|
||
<option value="weekday">The first weekday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap saved-search-weekly-additional">
|
||
<label for="saved-search-weekly-on-day" class="action-panel-label">
|
||
Which day?
|
||
</label>
|
||
<select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day">
|
||
<option value="Sunday">Sunday</option>
|
||
<option value="Monday">Monday</option>
|
||
<option value="Tuesday">Tuesday</option>
|
||
<option value="Wednesday">Wednesday</option>
|
||
<option value="Thursday">Thursday</option>
|
||
<option value="Friday">Friday</option>
|
||
<option value="Saturday">Saturday</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-report" class="action-panel-label">
|
||
Report format:
|
||
</label>
|
||
<select id="saved-search-report" class="no-border-panel-selector saved-search-report">
|
||
<option value="DocSum">Summary</option>
|
||
<option value="DocSumText">Summary (text)</option>
|
||
<option value="Abstract">Abstract</option>
|
||
<option value="AbstractText">Abstract (text)</option>
|
||
<option value="MEDLINE">PubMed</option>
|
||
</select>
|
||
</div>
|
||
<div class="action-panel-control-wrap">
|
||
<label for="saved-search-amount" class="action-panel-label">
|
||
Send at most:
|
||
</label>
|
||
<select id="saved-search-amount" class="no-border-panel-selector saved-search-amount">
|
||
<option value="1">1 item</option>
|
||
<option value="5" selected>5 items</option>
|
||
<option value="10">10 items</option>
|
||
<option value="20">20 items</option>
|
||
<option value="50">50 items</option>
|
||
<option value="100">100 items</option>
|
||
<option value="200">200 items</option>
|
||
</select>
|
||
</div>
|
||
<div>
|
||
<input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result">
|
||
<label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox">
|
||
Send even when there aren't any new results
|
||
</label>
|
||
</div>
|
||
<div class="action-panel-control-wrap option-text-in-email-wrap">
|
||
<label for="saved-search-email-text" class="action-panel-label">
|
||
Optional text in email:
|
||
</label>
|
||
<textarea name="saved-search-email-text"
|
||
id="saved-search-email-text"
|
||
class="saved-search-email-text"></textarea>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Saving..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Save
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your saved search' panel"
|
||
ref="linksrc=close_saved_search_panel"
|
||
aria-controls="saved-search-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Create a file for external citation management software
|
||
</h2>
|
||
<form id="citation-manager-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/results-export-ids/"
|
||
data-by-search-action="/results-export-search-data/"
|
||
data-by-ids-action="/results-export-ids/"
|
||
method="post"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ">
|
||
|
||
|
||
|
||
<input name="results-format" type="hidden" value="pubmed"/>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Send citations to citation manager' panel"
|
||
ref="linksrc=close_citation_manager_panel"
|
||
aria-controls="citation-manager-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="citation_manager"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Your RSS Feed
|
||
</h2>
|
||
|
||
<form id="rss-action-panel-form"
|
||
class="rss-action-panel-form action-panel-content action-form"
|
||
data-create-rss-feed-url="/create-rss-feed-url/"
|
||
data-search-form-term-value="">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="rss-name" class="action-panel-label required-field-asterisk">
|
||
Name of RSS Feed:
|
||
</label>
|
||
<input maxlength="200"
|
||
placeholder="Name"
|
||
type="text"
|
||
name="rss-name"
|
||
id="rss-name"
|
||
class="rss-name"
|
||
value=''
|
||
required
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/">
|
||
</div>
|
||
|
||
<div class="rss-limit-wrap">
|
||
<div class="action-panel-control-wrap action-panel-extra-margin-top">
|
||
<label for="rss-limit" class="action-panel-label">
|
||
Number of items displayed:
|
||
</label>
|
||
<select id="rss-limit" class="no-border-panel-selector rss-limit">
|
||
<option value="5">5</option>
|
||
<option value="10">10</option>
|
||
<option value="15" selected="selected">15</option>
|
||
<option value="20">20</option>
|
||
<option value="50">50</option>
|
||
<option value="100">100</option>
|
||
</select>
|
||
</div>
|
||
</div>
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Creating..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="save">
|
||
Create RSS
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Your RSS' panel"
|
||
ref="linksrc=close_rss_panel"
|
||
aria-controls="rss-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="alert"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap rss-link-copy-wrap">
|
||
<label for="rss-link" class="usa-sr-only">RSS Link</label>
|
||
<input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link">
|
||
<button
|
||
type="button"
|
||
disabled
|
||
class="rss-link-copy-button disabled"
|
||
data-ga-category="save_share"
|
||
data-ga-action="rss"
|
||
data-ga-label="copy">
|
||
Copy
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="article-page" id="article-page" data-article-pmid="26000322">
|
||
<aside class="page-sidebar">
|
||
<div class="inner-wrap">
|
||
|
||
<div class="full-text-links">
|
||
<div class="full-view">
|
||
<h3 class="title">
|
||
Full text links
|
||
</h3>
|
||
<div class="full-text-links-list">
|
||
<a class="link-item
|
||
|
||
dialog-focus"
|
||
href="https://onlinelibrary.wiley.com/doi/10.1002/acn3.189"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3058&itool=Abstract-def&log$=linkouticon&uid=26000322&db=pubmed&nlmid=101623278"
|
||
title="See full text options at Wiley"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Wiley"
|
||
data-ga-label="26000322"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/http:--media.wiley.com-assets-7388-68-wiley-free-full-text.png" alt="Wiley full text link"><span class="text">
|
||
|
||
Wiley
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/26000322/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=26000322&db=pubmed&nlmid=101623278"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="26000322"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><button class="citation-button citation-dialog-trigger"
|
||
aria-label="Open dialog with citation text in different styles"
|
||
data-ga-category="save_share"
|
||
data-ga-action="cite"
|
||
data-ga-label="open"
|
||
data-all-citations-url="/26000322/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/26000322/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="26000322" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F26000322%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="kVnA3RQOF4kUCoM6UKGGWEqRc2k4ihEpBI7FGHjafF7owPSWx3jIqMWvK62gbScJ"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio"
|
||
id="collections-action-dialog-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio"
|
||
id="collections-action-dialog-existing"
|
||
class="collections-existing"
|
||
name="collections"
|
||
value="existing"
|
||
checked="true"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk">
|
||
Name your collection:
|
||
</label><input
|
||
type="text"
|
||
name="add-to-new-collection"
|
||
id="collections-action-dialog-add-to-new"
|
||
class="collections-action-add-to-new"
|
||
pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"
|
||
maxlength="100"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="create_collection"
|
||
data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message">
|
||
Name must be less than 100 characters
|
||
</div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label">
|
||
Choose a collection:
|
||
</label><select id="collections-action-dialog-add-to-existing"
|
||
class="action-panel-selector collections-action-add-to-existing"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="select_collection"
|
||
data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message">
|
||
Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Adding..."
|
||
data-pinger-ignore
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="add">
|
||
Add
|
||
</button><button class="action-panel-cancel"
|
||
aria-label="Close 'Add to Collections' panel"
|
||
ref="linksrc=close_collections_panel"
|
||
aria-controls="collections-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger"
|
||
title="Open dialog with more actions to take"
|
||
ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
data-current-format-value="abstract" role="region"><button
|
||
class="trigger usa-button"
|
||
title="Change format"
|
||
data-ga-category="display_options"
|
||
data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title">
|
||
Display options
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2015 May;2(5):492-509.</span>
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<h1 class="heading-title">
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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
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data-ga-label="Peter Freisinger">Peter Freisinger</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Klinikum Reutlingen 72764, Reutlingen, Germany." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Eggimann+S&cauthor_id=26000322"
|
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data-ga-label="Sandra Eggimann">Sandra Eggimann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Clinical Chemistry and University Children's Hospital, University of Bern 3010, Bern, Switzerland." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ohtake+A&cauthor_id=26000322"
|
||
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data-ga-label="Akira Ohtake">Akira Ohtake</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Faculty of Medicine, Saitama Medical University Saitama, 350-0495, Japan." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Okazaki+Y&cauthor_id=26000322"
|
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ref="linksrc=author_name_link"
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data-ga-label="Yasushi Okazaki">Yasushi Okazaki</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan ; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kohda+M&cauthor_id=26000322"
|
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|
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data-ga-label="Masakazu Kohda">Masakazu Kohda</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Kishita+Y&cauthor_id=26000322"
|
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|
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data-ga-label="Yoshihito Kishita">Yoshihito Kishita</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Tokuzawa+Y&cauthor_id=26000322"
|
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data-ga-label="Yoshimi Tokuzawa">Yoshimi Tokuzawa</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
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14
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Sauer+S&cauthor_id=26000322"
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ref="linksrc=author_name_link"
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data-ga-label="Sascha Sauer">Sascha Sauer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Max-Planck-Institute for Molecular Genetics, Otto-Warburg Laboratory 14195, Berlin, Germany." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
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15
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Memari+Y&cauthor_id=26000322"
|
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data-ga-label="Yasin Memari">Yasin Memari</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute Hinxton, Cambridge, CB10 1SA, United Kingdom." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Kolb-Kokocinski+A&cauthor_id=26000322"
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data-ga-label="Anja Kolb-Kokocinski">Anja Kolb-Kokocinski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute Hinxton, Cambridge, CB10 1SA, United Kingdom." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Durbin+R&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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data-ga-label="Richard Durbin">Richard Durbin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute Hinxton, Cambridge, CB10 1SA, United Kingdom." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hasselmann+O&cauthor_id=26000322"
|
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ref="linksrc=author_name_link"
|
||
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||
data-ga-label="Oswald Hasselmann">Oswald Hasselmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuropediatrics, Children's Hospital of Eastern Switzerland St.Gallen 9006, St. Gallen, Switzerland." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Cremer+K&cauthor_id=26000322"
|
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ref="linksrc=author_name_link"
|
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data-ga-label="Kirsten Cremer">Kirsten Cremer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Bonn 53127, Bonn, Germany." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Albrecht+B&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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||
data-ga-label="Beate Albrecht">Beate Albrecht</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen 45122, Essen, Germany." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Wieczorek+D&cauthor_id=26000322"
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data-ga-label="Dagmar Wieczorek">Dagmar Wieczorek</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen 45122, Essen, Germany." href="#full-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Engels+H&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Hartmut Engels">Hartmut Engels</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Bonn 53127, Bonn, Germany." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hahn+D&cauthor_id=26000322"
|
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data-ga-label="Dagmar Hahn">Dagmar Hahn</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Clinical Chemistry and University Children's Hospital, University of Bern 3010, Bern, Switzerland." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Zink+AM&cauthor_id=26000322"
|
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ref="linksrc=author_name_link"
|
||
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data-ga-label="Alexander M Zink">Alexander M Zink</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Bonn 53127, Bonn, Germany." href="#full-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Alston+CL&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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||
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|
||
data-ga-label="Charlotte L Alston">Charlotte L Alston</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University Newcastle upon Tyne, NE2 4HH, United Kingdom." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Taylor+RW&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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|
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|
||
data-ga-label="Robert W Taylor">Robert W Taylor</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University Newcastle upon Tyne, NE2 4HH, United Kingdom." href="#full-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Rodenburg+RJ&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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||
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||
data-ga-label="Richard J Rodenburg">Richard J Rodenburg</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Center 6525 GA, Nijmegen, The Netherlands." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Trollmann+R&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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||
data-ga-label="Regina Trollmann">Regina Trollmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg 91054, Erlangen, Germany." href="#full-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sperl+W&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Wolfgang Sperl">Wolfgang Sperl</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Paracelsus Medical University Salzburg 5020, Salzburg, Austria." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Strom+TM&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Tim M Strom">Tim M Strom</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hoffmann+GF&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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||
data-ga-label="Georg F Hoffmann">Georg F Hoffmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Divisions of Inherited Metabolic Disease and Neuropediatrics, Department of General Pediatrics, University Hospital Heidelberg D-69120, Heidelberg, Germany." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Mayr+JA&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Johannes A Mayr">Johannes A Mayr</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Paracelsus Medical University Salzburg 5020, Salzburg, Austria." href="#full-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Meitinger+T&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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data-ga-action="author_link"
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data-ga-label="Thomas Meitinger">Thomas Meitinger</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany ; Munich Cluster for Systems Neurology (SyNergy) 80336, Munich, Germany ; DZNE - German Center for Neurodegenerative Diseases 80336, Munich, Germany." href="#full-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Bolognini+R&cauthor_id=26000322"
|
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ref="linksrc=author_name_link"
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data-ga-label="Ramona Bolognini">Ramona Bolognini</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Department of Pediatrics, University of Bern 3010, Bern, Switzerland." href="#full-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Schuelke+M&cauthor_id=26000322"
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data-ga-label="Markus Schuelke">Markus Schuelke</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin Berlin 13353, Berlin, Germany." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Nuoffer+JM&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
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data-ga-label="Jean-Marc Nuoffer">Jean-Marc Nuoffer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Clinical Chemistry and University Children's Hospital, University of Bern 3010, Bern, Switzerland." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=K%C3%B6lker+S&cauthor_id=26000322"
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data-ga-label="Stefan Kölker">Stefan Kölker</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Divisions of Inherited Metabolic Disease and Neuropediatrics, Department of General Pediatrics, University Hospital Heidelberg D-69120, Heidelberg, Germany." href="#full-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Prokisch+H&cauthor_id=26000322"
|
||
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||
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data-ga-label="Holger Prokisch">Holger Prokisch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Klopstock+T&cauthor_id=26000322"
|
||
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|
||
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data-ga-label="Thomas Klopstock">Thomas Klopstock</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University 80336, Munich, Germany ; Munich Cluster for Systems Neurology (SyNergy) 80336, Munich, Germany ; DZNE - German Center for Neurodegenerative Diseases 80336, Munich, Germany." href="#full-view-affiliation-24" ref="linksrc=author_aff">
|
||
24
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
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||
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|
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|
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</div>
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<div class="short-article-details">
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Affiliations
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><sup class="key">12</sup> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan ; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan.</li>
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><sup class="key">19</sup> Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen 45122, Essen, Germany.</li>
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<li data-affiliation-id="full-view-affiliation-20"
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<li data-affiliation-id="full-view-affiliation-22"
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><sup class="key">23</sup> Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany ; Munich Cluster for Systems Neurology (SyNergy) 80336, Munich, Germany ; DZNE - German Center for Neurodegenerative Diseases 80336, Munich, Germany.</li>
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><sup class="key">24</sup> Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University 80336, Munich, Germany ; Munich Cluster for Systems Neurology (SyNergy) 80336, Munich, Germany ; DZNE - German Center for Neurodegenerative Diseases 80336, Munich, Germany.</li>
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Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
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<span class="authors-list-item "><span class="full-name">Tobias B Haack</span><span class="citation-separator"> et al.</span></span>
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||
data-ga-label="Gudrun Schottmann">Gudrun Schottmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin Berlin 13353, Berlin, Germany." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Santra+S&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
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||
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data-ga-label="Saikat Santra">Saikat Santra</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Birmingham Children's Hospital Birmingham, B4 6NH, United Kingdom." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
||
8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=B%C3%BCchner+B&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
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||
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||
data-ga-label="Boriana Büchner">Boriana Büchner</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University 80336, Munich, Germany." href="#short-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wieland+T&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
|
||
data-ga-label="Thomas Wieland">Thomas Wieland</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Graf+E&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-label="Elisabeth Graf">Elisabeth Graf</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Freisinger+P&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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||
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||
data-ga-label="Peter Freisinger">Peter Freisinger</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Klinikum Reutlingen 72764, Reutlingen, Germany." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Eggimann+S&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-action="author_link"
|
||
data-ga-label="Sandra Eggimann">Sandra Eggimann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Clinical Chemistry and University Children's Hospital, University of Bern 3010, Bern, Switzerland." href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Ohtake+A&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
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|
||
data-ga-label="Akira Ohtake">Akira Ohtake</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Faculty of Medicine, Saitama Medical University Saitama, 350-0495, Japan." href="#short-view-affiliation-11" ref="linksrc=author_aff">
|
||
11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Okazaki+Y&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
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|
||
data-ga-label="Yasushi Okazaki">Yasushi Okazaki</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan ; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan." href="#short-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kohda+M&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Masakazu Kohda">Masakazu Kohda</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan." href="#short-view-affiliation-13" ref="linksrc=author_aff">
|
||
13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kishita+Y&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
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|
||
data-ga-label="Yoshihito Kishita">Yoshihito Kishita</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan." href="#short-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Tokuzawa+Y&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
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|
||
data-ga-label="Yoshimi Tokuzawa">Yoshimi Tokuzawa</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan." href="#short-view-affiliation-14" ref="linksrc=author_aff">
|
||
14
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sauer+S&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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data-ga-action="author_link"
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||
data-ga-label="Sascha Sauer">Sascha Sauer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Max-Planck-Institute for Molecular Genetics, Otto-Warburg Laboratory 14195, Berlin, Germany." href="#short-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Memari+Y&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Yasin Memari">Yasin Memari</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute Hinxton, Cambridge, CB10 1SA, United Kingdom." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Kolb-Kokocinski+A&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Anja Kolb-Kokocinski">Anja Kolb-Kokocinski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute Hinxton, Cambridge, CB10 1SA, United Kingdom." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Durbin+R&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Richard Durbin">Richard Durbin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute Hinxton, Cambridge, CB10 1SA, United Kingdom." href="#short-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hasselmann+O&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Oswald Hasselmann">Oswald Hasselmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuropediatrics, Children's Hospital of Eastern Switzerland St.Gallen 9006, St. Gallen, Switzerland." href="#short-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Cremer+K&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Kirsten Cremer">Kirsten Cremer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Bonn 53127, Bonn, Germany." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Albrecht+B&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Beate Albrecht">Beate Albrecht</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen 45122, Essen, Germany." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Wieczorek+D&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Dagmar Wieczorek">Dagmar Wieczorek</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen 45122, Essen, Germany." href="#short-view-affiliation-19" ref="linksrc=author_aff">
|
||
19
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Engels+H&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Hartmut Engels">Hartmut Engels</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Bonn 53127, Bonn, Germany." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hahn+D&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Dagmar Hahn">Dagmar Hahn</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Clinical Chemistry and University Children's Hospital, University of Bern 3010, Bern, Switzerland." href="#short-view-affiliation-2" ref="linksrc=author_aff">
|
||
2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Zink+AM&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Alexander M Zink">Alexander M Zink</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, University of Bonn 53127, Bonn, Germany." href="#short-view-affiliation-18" ref="linksrc=author_aff">
|
||
18
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Alston+CL&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Charlotte L Alston">Charlotte L Alston</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University Newcastle upon Tyne, NE2 4HH, United Kingdom." href="#short-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Taylor+RW&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Robert W Taylor">Robert W Taylor</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University Newcastle upon Tyne, NE2 4HH, United Kingdom." href="#short-view-affiliation-20" ref="linksrc=author_aff">
|
||
20
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Rodenburg+RJ&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
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||
data-ga-action="author_link"
|
||
data-ga-label="Richard J Rodenburg">Richard J Rodenburg</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Center 6525 GA, Nijmegen, The Netherlands." href="#short-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Trollmann+R&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Regina Trollmann">Regina Trollmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg 91054, Erlangen, Germany." href="#short-view-affiliation-21" ref="linksrc=author_aff">
|
||
21
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Sperl+W&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Wolfgang Sperl">Wolfgang Sperl</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Paracelsus Medical University Salzburg 5020, Salzburg, Austria." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Strom+TM&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Tim M Strom">Tim M Strom</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Hoffmann+GF&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-action="author_link"
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||
data-ga-label="Georg F Hoffmann">Georg F Hoffmann</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Divisions of Inherited Metabolic Disease and Neuropediatrics, Department of General Pediatrics, University Hospital Heidelberg D-69120, Heidelberg, Germany." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
||
5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Mayr+JA&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Johannes A Mayr">Johannes A Mayr</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Paracelsus Medical University Salzburg 5020, Salzburg, Austria." href="#short-view-affiliation-22" ref="linksrc=author_aff">
|
||
22
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Meitinger+T&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Thomas Meitinger">Thomas Meitinger</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany ; Munich Cluster for Systems Neurology (SyNergy) 80336, Munich, Germany ; DZNE - German Center for Neurodegenerative Diseases 80336, Munich, Germany." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
||
23
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Bolognini+R&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
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||
data-ga-action="author_link"
|
||
data-ga-label="Ramona Bolognini">Ramona Bolognini</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Human Genetics, Department of Pediatrics, University of Bern 3010, Bern, Switzerland." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
||
4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
href="/?term=Schuelke+M&cauthor_id=26000322"
|
||
ref="linksrc=author_name_link"
|
||
data-ga-category="search"
|
||
data-ga-action="author_link"
|
||
data-ga-label="Markus Schuelke">Markus Schuelke</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin Berlin 13353, Berlin, Germany." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
||
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|
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2
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24
|
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><sup class="key">1</sup> Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany.</li>
|
||
|
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<li data-affiliation-id="short-view-affiliation-2"
|
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id="short-view-affiliation-2"
|
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><sup class="key">2</sup> Institute of Clinical Chemistry and University Children's Hospital, University of Bern 3010, Bern, Switzerland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Department of Metabolism, Chiba Children's Hospital Chiba, 266-0007, Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Division of Human Genetics, Department of Pediatrics, University of Bern 3010, Bern, Switzerland.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Divisions of Inherited Metabolic Disease and Neuropediatrics, Department of General Pediatrics, University Hospital Heidelberg D-69120, Heidelberg, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
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><sup class="key">6</sup> Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Center 6525 GA, Nijmegen, The Netherlands.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
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id="short-view-affiliation-7"
|
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><sup class="key">7</sup> Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin Berlin 13353, Berlin, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
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><sup class="key">8</sup> Department of Pediatrics, Birmingham Children's Hospital Birmingham, B4 6NH, United Kingdom.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
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><sup class="key">9</sup> Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University 80336, Munich, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
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id="short-view-affiliation-10"
|
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><sup class="key">10</sup> Department of Pediatrics, Klinikum Reutlingen 72764, Reutlingen, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Department of Pediatrics, Faculty of Medicine, Saitama Medical University Saitama, 350-0495, Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan ; Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan.</li>
|
||
|
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<li data-affiliation-id="short-view-affiliation-13"
|
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id="short-view-affiliation-13"
|
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><sup class="key">13</sup> Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
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id="short-view-affiliation-14"
|
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><sup class="key">14</sup> Division of Functional Genomics & Systems Medicine, Research Center for Genomic Medicine, Saitama Medical University Saitama, 350-1241, Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
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id="short-view-affiliation-15"
|
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><sup class="key">15</sup> Max-Planck-Institute for Molecular Genetics, Otto-Warburg Laboratory 14195, Berlin, Germany.</li>
|
||
|
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<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
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><sup class="key">16</sup> Wellcome Trust Sanger Institute Hinxton, Cambridge, CB10 1SA, United Kingdom.</li>
|
||
|
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<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
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><sup class="key">17</sup> Department of Neuropediatrics, Children's Hospital of Eastern Switzerland St.Gallen 9006, St. Gallen, Switzerland.</li>
|
||
|
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<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
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><sup class="key">18</sup> Institute of Human Genetics, University of Bonn 53127, Bonn, Germany.</li>
|
||
|
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<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen 45122, Essen, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
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><sup class="key">20</sup> Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University Newcastle upon Tyne, NE2 4HH, United Kingdom.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
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><sup class="key">21</sup> Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg 91054, Erlangen, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Department of Pediatrics, Paracelsus Medical University Salzburg 5020, Salzburg, Austria.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Institute of Human Genetics, Technische Universität München 81675, Munich, Germany ; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health 85764, Neuherberg, Germany ; Munich Cluster for Systems Neurology (SyNergy) 80336, Munich, Germany ; DZNE - German Center for Neurodegenerative Diseases 80336, Munich, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-24"
|
||
id="short-view-affiliation-24"
|
||
><sup class="key">24</sup> Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University 80336, Munich, Germany ; Munich Cluster for Systems Neurology (SyNergy) 80336, Munich, Germany ; DZNE - German Center for Neurodegenerative Diseases 80336, Munich, Germany.</li>
|
||
|
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</ul>
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</div>
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<strong class="current-id" title="PubMed ID">26000322</strong>
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DOI:
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10.1002/acn3.189
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||
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Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and essential amino acids such as valine. Here, we describe the broad phenotypic spectrum and pathobiochemistry of individuals with autosomal-recessive ECHS1 deficiency.
|
||
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Methods:
|
||
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|
||
|
||
Using exome sequencing, we identified ten unrelated individuals carrying compound heterozygous or homozygous mutations in ECHS1. Functional investigations in patient-derived fibroblast cell lines included immunoblotting, enzyme activity measurement, and a palmitate loading assay.
|
||
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||
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Results:
|
||
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||
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||
Patients showed a heterogeneous phenotype with disease onset in the first year of life and course ranging from neonatal death to survival into adulthood. The most prominent clinical features were encephalopathy (10/10), deafness (9/9), epilepsy (6/9), optic atrophy (6/10), and cardiomyopathy (4/10). Serum lactate was elevated and brain magnetic resonance imaging showed white matter changes or a Leigh-like pattern resembling disorders of mitochondrial energy metabolism. Analysis of patients' fibroblast cell lines (6/10) provided further evidence for the pathogenicity of the respective mutations by showing reduced ECHS1 protein levels and reduced 2-enoyl-CoA hydratase activity. While serum acylcarnitine profiles were largely normal, in vitro palmitate loading of patient fibroblasts revealed increased butyrylcarnitine, unmasking the functional defect in mitochondrial β-oxidation of short-chain fatty acids. Urinary excretion of 2-methyl-2,3-dihydroxybutyrate - a potential derivative of acryloyl-CoA in the valine catabolic pathway - was significantly increased, indicating impaired valine oxidation.
|
||
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Interpretation:
|
||
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|
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|
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In conclusion, we define the phenotypic spectrum of a new syndrome caused by ECHS1 deficiency. We speculate that both the β-oxidation defect and the block in l-valine metabolism, with accumulation of toxic methacrylyl-CoA and acryloyl-CoA, contribute to the disorder that may be amenable to metabolic treatment approaches.
|
||
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<div class="figures" id="figures">
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Figures
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/46f1/4435704/0e2f4dad2a79/acn30002-0492-f1.gif"
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<p> Figure 1 </p>
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<div class="figure-caption-contents"><p> Short-chain enoyl-CoA hydratase (ECHS1) functions.… </p></div>
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<p> Figure 1 </p>
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<div class="figure-caption-contents"><p> Short-chain enoyl-CoA hydratase (ECHS1) functions. Proposed functions of ECHS1 in the mitochondrial amino… </p></div>
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Figure 1
|
||
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||
|
||
|
||
|
||
<div class="figure-caption-contents">Short-chain enoyl-CoA hydratase (ECHS1) functions. Proposed functions of ECHS1 in the mitochondrial amino acid and fatty acid metabolism with illustration of the level of HIBCH (3-hydroxyisobutyryl-CoA hydrolase) deficiency.</div>
|
||
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<p> Figure 2 </p>
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<div class="figure-caption-contents"><p> Pedigrees of investigated families and… </p></div>
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<p> Figure 2 </p>
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<div class="figure-caption-contents"><p> Pedigrees of investigated families and short-chain enoyl-CoA hydratase ( <i> ECHS1 </i> ) structure and… </p></div>
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Figure 2
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<div class="figure-caption-contents">Pedigrees of investigated families and short-chain enoyl-CoA hydratase (<i>ECHS1</i>) structure and conservation of identified mutations. (A) Pedigrees of 10 families with mutations in <i>ECHS1</i>. Mutation status of affected (closed symbols) and unaffected (open symbols) family members. (B) Gene structure of <i>ECHS1</i> with known protein domains of the gene product and localization and conservation of amino acid residues affected by mutations. Intronic regions are not drawn to scale.</div>
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<p> Figure 3 </p>
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<div class="figure-caption-contents"><p> Spectrum of brain MRI and… </p></div>
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<p> Figure 3 </p>
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<div class="figure-caption-contents"><p> Spectrum of brain MRI and autopsy changes in ECHS1 patients. (A) MRI (T2)… </p></div>
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Figure 3
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<div class="figure-caption-contents">Spectrum of brain MRI and autopsy changes in ECHS1 patients. (A) MRI (T2) at age 8 days in individual F1, II:2 showing widespread diffuse white matter changes and brain atrophy. (B) MRI (T2) at age 8 months in individual F6, II:1 (#376) showing brain atrophy and bilateral symmetric signal hyperintensity in <i>caput nucleus caudatus</i> and <i>putamen</i>. (C) MRI (FLAIR) at age 2.2 years in individual F9, II:2 (#57277) showing increased signal in <i>putamen, globus pallidus</i> and <i>caput nucleus caudatus</i>. (D) MRI (FLAIR) at age 15 years in individual F10, II:1 (#52236) showing bilateral symmetric signal hyperintensity in <i>caput nucleus caudatus</i> and <i>putamen</i>. (E) Autopsy at age 11 months in individual F2, II:1 (#42031) showing necrotizing encephalopathy of the caudate and lenticular nuclei. MRI, magnetic resonance imaging; ECHS1, short-chain enoyl-CoA hydratase.</div>
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data-image-alt="Figure 4"
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data-figure-id="fig04">
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<p> Figure 4 </p>
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<div class="figure-caption-contents"><p> Analysis of ECHS1 levels and… </p></div>
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<p> Figure 4 </p>
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<div class="figure-caption-contents"><p> Analysis of ECHS1 levels and enzymatic activity. (A) Analysis of ECHS1 steady state… </p></div>
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Figure 4
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<div class="figure-caption-contents">Analysis of ECHS1 levels and enzymatic activity. (A) Analysis of ECHS1 steady state levels by immunoblotting show a decrease in the amount of ECHS1 in patient-derived cell lines compared to controls. (B) Analysis of residual ECHS1 enzymatic activity indicates reduced 2-enoyl-CoA hydratase activity in cell lysates from patients’ fibroblasts compared to controls. Results shown are from at least three experiments performed in triplicates and controls (<i>n</i> = 4). Boxplot whiskers indicate range from 5th to 95th percentile. *<i>P</i> < 0.001; two-tailed unpaired <i>t</i>-test. (C) Analysis of palmitate-dependent OCR in fibroblast cell lines revealed impaired respiration in patients’ cells in comparison to controls. The experiment was performed several times with very similar results. The data are shown from one experiment performed with more than 10 replicates for each cell line grown and treated in parallel. Error bars indicate 1 SD. *<i>P</i> < 0.001; two-tailed unpaired <i>t</i>-test. ECHS1, short-chain enoyl-CoA hydratase; OCR, oxygen consumption rate.</div>
|
||
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Kanazawa M, Ohtake A, Abe H, et al. Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase. Enzyme Protein. 1993;47:9–13.
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Pougovkina O, te Brinke H, Ofman R, et al. Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation. Hum Mol Genet. 2014;23:3513–3522.
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