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<meta name="description" content="The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF7 …"><meta name="keywords" content="pmid:21944779, PMC3200438, doi:10.1016/j.neuron.2011.09.010, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov&#x27;t, Research Support, U.S. Gov&#x27;t, P.H.S., Alan E Renton, Elisa Majounie, Bryan J Traynor, Alleles, Amyotrophic Lateral Sclerosis / genetics*, Chromosomes, Human, Pair 9*, Female, Finland, Frontotemporal Dementia / genetics*, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Male, Microsatellite Repeats*, Pedigree, Polymorphism, Single Nucleotide, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/21944779/"><meta property="og:description" content="The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF7 …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/21944779/"><meta name="twitter:description" content="The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF7 …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 21944779 - PubMed</span>
<input type="hidden" name="email-subject" value="1 selected item: 21944779"/>
<input type="hidden" name="email-subject-hash" value="88f7cc51f412a00ec82d46564b2af86eae53fb4354d10f39cd56c330e82b1a41"/>
</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="Vl0xbml7tm0D6eZg9R71pRQAzfdQcDuOc8KCOcOt3XN70F56MaK3TZme7jV25e28">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"
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/"
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<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="Vl0xbml7tm0D6eZg9R71pRQAzfdQcDuOc8KCOcOt3XN70F56MaK3TZme7jV25e28">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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:
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<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>
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</div>
<div class="action-panel-control-wrap saved-search-weekly-additional">
<label for="saved-search-weekly-on-day" class="action-panel-label">
Which day?
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<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
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</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">
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<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="Vl0xbml7tm0D6eZg9R71pRQAzfdQcDuOc8KCOcOt3XN70F56MaK3TZme7jV25e28">
<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="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/">
</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="21944779">
<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://linkinghub.elsevier.com/retrieve/pii/S0896-6273(11)00797-5"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=False&amp;PrId=3048&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=21944779&amp;db=pubmed&amp;nlmid=8809320"
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Elsevier Science
</span></a><a class="link-item
pmc
"
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/21944779/"
target="_blank"
rel="noopener"
ref="linksrc=fulltextorjournal_fulltext&amp;is_pmc=True&amp;PrId=3494&amp;itool=Abstract-def&amp;log$=linkouticon&amp;uid=21944779&amp;db=pubmed&amp;nlmid=8809320"
title="Free full text at PubMed Central"
data-ga-category="full_text"
data-ga-action="PMC"
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Free PMC article
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<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="/21944779/citations/"
data-citation-style="nlm"
data-pubmed-format-link="/21944779/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="21944779" 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%2F21944779%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="Vl0xbml7tm0D6eZg9R71pRQAzfdQcDuOc8KCOcOt3XN70F56MaK3TZme7jV25e28"><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"
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<h1 class="heading-title">
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
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data-ga-label="Carsten Drepper">Carsten Drepper</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Nigel M Williams">Nigel M Williams</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Peter Heutink">Peter Heutink</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Stuart Pickering-Brown">Stuart Pickering-Brown</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Rossella Spataro">Rossella Spataro</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Colletti+T"
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data-ga-label="Stefania Battistini">Stefania Battistini</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Fabio Giannini">Fabio Giannini</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Claudia Ricci">Claudia Ricci</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Claudia Caponnetto">Claudia Caponnetto</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Gianluigi Mancardi">Gianluigi Mancardi</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Patrizia Sola">Patrizia Sola</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Massimo Corbo">Massimo Corbo</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Maria Rosaria Monsurrò">Maria Rosaria Monsurrò</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Gioacchino Tedeschi">Gioacchino Tedeschi</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Conforti+FL"
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data-ga-label="Francesca Luisa Conforti">Francesca Luisa Conforti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Paolo Volanti">Paolo Volanti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Gianluca Floris">Gianluca Floris</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Antonino Cannas">Antonino Cannas</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Maria Rita Murru">Maria Rita Murru</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Maria Giovanna Marrosu">Maria Giovanna Marrosu</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pugliatti+M"
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
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data-ga-label="Joanne Wuu">Joanne Wuu</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Chi%C3%B2+A&amp;cauthor_id=21944779"
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data-ga-label="Adriano Chiò">Adriano Chiò</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Restagno+G&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-label="Gabriella Restagno">Gabriella Restagno</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Borghero+G&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Giuseppe Borghero">Giuseppe Borghero</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sabatelli+M&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Mario Sabatelli">Mario Sabatelli</a><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=ITALSGEN+Consortium%5BCorporate+Author%5D"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="ITALSGEN Consortium">ITALSGEN Consortium</a><span class="semicolon">;&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Heckerman+D&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="David Heckerman">David Heckerman</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rogaeva+E&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Ekaterina Rogaeva">Ekaterina Rogaeva</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Zinman+L&amp;cauthor_id=21944779"
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data-ga-label="Lorne Zinman">Lorne Zinman</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Rothstein+JD&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-label="Jeffrey D Rothstein">Jeffrey D Rothstein</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sendtner+M&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-label="Michael Sendtner">Michael Sendtner</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Drepper+C&amp;cauthor_id=21944779"
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data-ga-label="Carsten Drepper">Carsten Drepper</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Eichler+EE&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-label="Evan E Eichler">Evan E Eichler</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Alkan+C&amp;cauthor_id=21944779"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Can Alkan">Can Alkan</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Abdullaev+Z&amp;cauthor_id=21944779"
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data-ga-label="Ziedulla Abdullaev">Ziedulla Abdullaev</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pack+SD&amp;cauthor_id=21944779"
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data-ga-label="Svetlana D Pack">Svetlana D Pack</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Dutra+A&amp;cauthor_id=21944779"
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data-ga-label="Amalia Dutra">Amalia Dutra</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pak+E&amp;cauthor_id=21944779"
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data-ga-label="Evgenia Pak">Evgenia Pak</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Hardy+J&amp;cauthor_id=21944779"
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data-ga-label="John Hardy">John Hardy</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Singleton+A&amp;cauthor_id=21944779"
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data-ga-label="Andrew Singleton">Andrew Singleton</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Williams+NM&amp;cauthor_id=21944779"
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data-ga-label="Nigel M Williams">Nigel M Williams</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Heutink+P&amp;cauthor_id=21944779"
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data-ga-label="Peter Heutink">Peter Heutink</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pickering-Brown+S&amp;cauthor_id=21944779"
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data-ga-label="Stuart Pickering-Brown">Stuart Pickering-Brown</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Morris+HR&amp;cauthor_id=21944779"
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data-ga-label="Huw R Morris">Huw R Morris</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tienari+PJ&amp;cauthor_id=21944779"
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data-ga-label="Pentti J Tienari">Pentti J Tienari</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Traynor+BJ&amp;cauthor_id=21944779"
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data-ga-label="Bryan J Traynor">Bryan J Traynor</a></span>
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<h3 class="title">
Collaborators
</h3>
<ul class="group-list">
<li>
<strong class="title">ITALSGEN Consortium</strong>:
<div class="authors-list">
<span class="authors-list-item "><a class="full-name"
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data-ga-label="Andrea Calvo">Andrea Calvo</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Stefania Cammarosano">Stefania Cammarosano</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Cristina Moglia">Cristina Moglia</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ossola+I"
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data-ga-label="Irene Ossola">Irene Ossola</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mora+G"
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data-ga-label="Gabriele Mora">Gabriele Mora</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Marinou+K"
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data-ga-label="Kalliopi Marinou">Kalliopi Marinou</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Papetti+L"
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data-ga-label="Laura Papetti">Laura Papetti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Conte+A"
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data-ga-label="Amelia Conte">Amelia Conte</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Luigetti+M"
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data-ga-label="Marco Luigetti">Marco Luigetti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=La+Bella+V"
ref="linksrc=author_name_link"
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data-ga-label="Vincenzo La Bella">Vincenzo La Bella</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Spataro+R"
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data-ga-label="Rossella Spataro">Rossella Spataro</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Colletti+T"
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data-ga-label="Tiziana Colletti">Tiziana Colletti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Battistini+S"
ref="linksrc=author_name_link"
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data-ga-action="author_link"
data-ga-label="Stefania Battistini">Stefania Battistini</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Giannini+F"
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data-ga-label="Fabio Giannini">Fabio Giannini</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ricci+C"
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data-ga-label="Claudia Ricci">Claudia Ricci</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Caponnetto+C"
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data-ga-label="Claudia Caponnetto">Claudia Caponnetto</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mancardi+G"
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data-ga-label="Gianluigi Mancardi">Gianluigi Mancardi</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mandich+P"
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data-ga-label="Paola Mandich">Paola Mandich</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Salvi+F"
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data-ga-label="Fabrizio Salvi">Fabrizio Salvi</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Bartolomei+I"
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data-ga-label="Ilaria Bartolomei">Ilaria Bartolomei</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Mandrioli+J"
ref="linksrc=author_name_link"
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data-ga-label="Jessica Mandrioli">Jessica Mandrioli</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Sola+P"
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data-ga-action="author_link"
data-ga-label="Patrizia Sola">Patrizia Sola</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Corbo+M"
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data-ga-action="author_link"
data-ga-label="Massimo Corbo">Massimo Corbo</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Lunetta+C"
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data-ga-label="Christian Lunetta">Christian Lunetta</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Penco+S"
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data-ga-label="Silvana Penco">Silvana Penco</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Monsurr%C3%B2+MR"
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data-ga-label="Maria Rosaria Monsurrò">Maria Rosaria Monsurrò</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Tedeschi+G"
ref="linksrc=author_name_link"
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data-ga-label="Gioacchino Tedeschi">Gioacchino Tedeschi</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Conforti+FL"
ref="linksrc=author_name_link"
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data-ga-label="Francesca Luisa Conforti">Francesca Luisa Conforti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Volanti+P"
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data-ga-label="Paolo Volanti">Paolo Volanti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Floris+G"
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data-ga-label="Gianluca Floris">Gianluca Floris</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Cannas+A"
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data-ga-label="Antonino Cannas">Antonino Cannas</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Piras+V"
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data-ga-label="Valeria Piras">Valeria Piras</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Murru+MR"
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data-ga-label="Maria Rita Murru">Maria Rita Murru</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Marrosu+MG"
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data-ga-label="Maria Giovanna Marrosu">Maria Giovanna Marrosu</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Pugliatti+M"
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data-ga-label="Maura Pugliatti">Maura Pugliatti</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Ticca+A"
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data-ga-label="Anna Ticca">Anna Ticca</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Simone+I"
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data-ga-label="Isabella Simone">Isabella Simone</a><span class="comma">,&nbsp;</span></span><span class="authors-list-item "><a class="full-name"
href="/?term=Logroscino+G"
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data-ga-label="Giancarlo Logroscino">Giancarlo Logroscino</a></span>
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</li>
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</div>
<div class="affiliations">
<h3 class="title">
Affiliation
</h3>
<ul class="item-list">
<li data-affiliation-id="short-view-affiliation-1"
id="short-view-affiliation-1"
><sup class="key">1</sup> Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.</li>
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PMID:
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<strong class="current-id" title="PubMed ID">21944779</strong>
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<span class="identifier pmc">
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PMCID:
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DOI:
</span>
<a class="id-link"
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ref="linksrc=article_id_link&amp;article_id=10.1016/j.neuron.2011.09.010&amp;id_type=DOI"
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10.1016/j.neuron.2011.09.010
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The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases. We have previously shown that a founder haplotype, covering the MOBKL2b, IFNK, and C9ORF72 genes, is present in the majority of cases linked to this region. Here we show that there is a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on the affected haplotype. This repeat expansion segregates perfectly with disease in the Finnish population, underlying 46.0% of familial ALS and 21.1% of sporadic ALS in that population. Taken together with the D90A SOD1 mutation, 87% of familial ALS in Finland is now explained by a simple monogenic cause. The repeat expansion is also present in one-third of familial ALS cases of outbred European descent, making it the most common genetic cause of these fatal neurodegenerative diseases identified to date.
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<p> Figure 1. Pedigrees of patients carrying the… </p>
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<p> Figure 1. Pedigrees of patients carrying the <i> C9ORF72 </i> GGGGCC hexanucleotide repeat expansion </p>
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<div class="figure-caption-contents"><p> (AE) Pedigrees of… </p></div>
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Figure 1. Pedigrees of patients carrying the <i>C9ORF72</i> GGGGCC hexanucleotide repeat expansion
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<div class="figure-caption-contents">(AE) Pedigrees of patients with the hexanucleotide repeat expansion. Mutant alleles are shown by mt, whereas wild-type alleles are indicated by wt. Inferred genotypes are in brackets. Blue diamonds represent a diagnosis of ALS, orange diamonds represent FTD, and green diamonds represent ALS-FTD. Probands are indicated by arrows. Sex of the pedigree members is obscured to protect privacy.</div>
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<p> Figure 2. GGGGCC hexanucleotide repeat expansion in… </p>
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<p> Figure 2. GGGGCC hexanucleotide repeat expansion in the first intron and promoter of <i> C9ORF72 </i> </p>
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<div class="figure-caption-contents"><p> (A)… </p></div>
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Figure 2. GGGGCC hexanucleotide repeat expansion in the first intron and promoter of <i>C9ORF72</i>
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<div class="figure-caption-contents">(A) Physical map of the chromosome 9p21 ALS/FTD locus showing the p-values for SNPs genotyped in the previous GWAs (Laaksovirta et al., 2010), the location of the GWAs association signal within a 232kb block of linkage disequilibrium, the <i>MOBKL2B</i>, <i>IFNK</i> and <i>C9ORF72</i> genes within this region, and the position of the GGGGCC hexanucleotide repeat expansion within the two main transcripts of <i>C9ORF72</i> (RefSeq accession numbers NM_018325.2 and NM_145005.4, see online <ext-link xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="uri" xlink:href="www.ncbi.nlm.nih.gov/RefSeq/">www.ncbi.nlm.nih.gov/RefSeq/</ext-link> for further details; GenBank accession numbers GI:209863035 and GI:209863036, see online <ext-link xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="uri" xlink:href="www.ncbi.nlm.nih.gov/genbank/">www.ncbi.nlm.nih.gov/genbank/</ext-link> for further details); (B) A graphical representation of primer binding for repeat-primed PCR analysis is shown in the upper panel. In the lower panel, capillary-based sequence traces of the repeat-primed PCR are shown. Orange lines indicate the size markers, and the vertical axis represents fluorescence intensity. A typical saw tooth tail pattern that extends beyond the 300 bp marker with a 6 bp periodicity is observed in the case carrying the GGGGCC repeat expansion; (C) Detection of the repeat expansion in the lymphoblastoid cell line from the affected proband of the GWENT#1 kindred (ND06769) by FISH using Alexa Fluor 488 - labeled oligonucleotide probe seen as a green fluorescence signal on one of the homologues of chromosome 9p (i) consistent with a repeat expansion size of more than 1.5kb. DAPI-inverted image (ii &amp; iv). No hybridization signal was detected on metaphase cells or interphase nuclei from the lymphoblastoid cell line of control individual ND 11463 (iii) and 5 other normal control individuals (data not shown). Cells were counterstained with 4,6-diamidino-2-phenylindole (DAPI, red color), x60 objective.</div>
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<img class="figure-thumb" itemprop="thumbnail"
id="article-image-2"
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<p> Figure 3. Repeat-primed PCR assay distinguishes samples… </p>
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<p> Figure 3. Repeat-primed PCR assay distinguishes samples carrying a pathogenic GGGGCC hexanucleotide repeat expansion in… </p>
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<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
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Figure 3. Repeat-primed PCR assay distinguishes samples carrying a pathogenic GGGGCC hexanucleotide repeat expansion in the <i>C9ORF72</i> gene from wild-type samples
</strong>
<div class="figure-caption-contents">A bimodal distribution is evident with samples carrying the repeat expansion showing 30 or more repeats and control samples having less than 20 repeats. The repeat-primed PCR assay determines whether or not a sample carries a large pathogenic expansion, but does not measure the actual number of repeats in a large pathogenic expansion. (A) Histogram of repeat lengths based on the repeat-primed PCR assay observed in Finnish cases (n = 402); (B) Histogram of repeat lengths based on the repeat-primed PCR assay observed in Finnish controls (n = 478); (C) Histogram of repeat lengths based on the repeat-primed PCR assay in familial ALS cases of general European (non-Finnish) descent (n = 268); (D) Histogram of repeat lengths based on the repeat-primed PCR assay in control samples of European descent (n = 409) and Human Gene Diversity Panel samples (n = 300).</div>
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<p> Figure 4. Expression analysis of <i> C9ORF72 </i> RNA </p>
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<p> Figure 4. Expression analysis of <i> C9ORF72 </i> RNA </p>
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<div class="figure-caption-contents"><p> Expression array analysis of <i> C9ORF72 </i> in various human… </p></div>
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Figure 4. Expression analysis of <i>C9ORF72</i> RNA
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<div class="figure-caption-contents">Expression array analysis of <i>C9ORF72</i> in various human CNS regions obtained from neuropathologically normal individuals (n = 137).</div>
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<p> Figure 5. Preliminary analysis of C9ORF72 protein… </p>
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<p> Figure 5. Preliminary analysis of C9ORF72 protein levels in control cell lines and cell lines… </p>
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Figure 5. Preliminary analysis of C9ORF72 protein levels in control cell lines and cell lines derived from ALS patients
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<div class="figure-caption-contents">(A) Immunocytochemistry of C9ORF72 protein in human-derived primary fibroblasts obtained from a healthy individual (Ctrl fibr.) and from ALS patients (ALS-75 and ALS-50). Green signals represent C9ORF72 (Santa Cruz antibody). Scale bars 20 μm; (B) Nuclear staining pattern of C9ORF72 protein in control and ALS fibroblasts. Green signals represent C9ORF72 protein (Santa Cruz) and red signals represent propidium iodide (PI) (nuclear stain). Scale bars 20 μm; (C) Immunocytochemistry of C9ORF72 protein in mouse-derived NSC-34 motor neuron cell line. Green signals represent C9ORF72 protein (Santa Cruz), red signals represent propidium iodide (PI) (nuclear stain), and blue signals represent wheat germ agglutinin (WGA) (membrane stain). Scale bar 20 μm. (D) Nuclear staining pattern of C9ORF72 protein in NSC-34 mouse motor neuron cell line. Green signals represent C9ORF72 protein, and red signals represent propidium iodide (PI) (nuclear stain). Scale bars 20 μm.</div>
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A hexanucleotide repeat expansion in C9ORF72 links amyotrophic lateral sclerosis and frontotemporal dementia.
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<span class="docsum-authors full-authors">Wood H.</span>
<span class="docsum-authors short-authors">Wood H.</span>
<span class="docsum-journal-citation full-journal-citation">Nat Rev Neurol. 2011 Oct 18;7(11):595. doi: 10.1038/nrneurol.2011.162.</span>
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FTD and ALS: genetic ties that bind.
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<span class="docsum-authors full-authors">Orr HT.</span>
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A nasty hex on chromosome 9 causes FTD/ALS.
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New gene for ALSFTD.
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<div id="related-links" class="related-links">
<h2 class="title">
Related information
</h2>
<ul class="related-links-list"><li><a title="BioSample links" href="https://www.ncbi.nlm.nih.gov/biosample?linkname=pubmed_biosample&amp;from_uid=21944779"
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BioSample
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Cited in Books
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21944779&ordinalpos=1&linkpos=3">
ClinVar
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21944779&ordinalpos=1&linkpos=4">
Gene
</a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&amp;from_uid=21944779"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21944779&ordinalpos=1&linkpos=5">
Gene (GeneRIF)
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21944779&ordinalpos=1&linkpos=6">
MedGen
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ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21944779&ordinalpos=1&linkpos=7">
MedGen (Bookshelf cited)
</a></li><li><a title="Published Nucleotide sequences" href="https://www.ncbi.nlm.nih.gov/nuccore?linkname=pubmed_nuccore&amp;from_uid=21944779"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21944779&ordinalpos=1&linkpos=8">
Nucleotide
</a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&amp;from_uid=21944779"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21944779&ordinalpos=1&linkpos=9">
OMIM (cited)
</a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&amp;from_uid=21944779"
ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21944779&ordinalpos=1&linkpos=10">
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