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||
<!--
|
||
UID=334136
|
||
ConceptID=C1842674
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Amyotrophic lateral sclerosis type 7<span class="h1sub">(ALS7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334136</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1842674</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>ALS7</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Amyotrophic lateral sclerosis type 7 (1204349002); ALS7 - amyotrophic lateral sclerosis type 7 (1204349002)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011952" target="_blank">MONDO:0011952</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608031" target="_blank">608031</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0002736[DISCUI]&test_type=Clinical" ref="ncbi_uid=274">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=274">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=274" ref="ncbi_uid=274">V</a></span></span><span class="TLline"><a href="/medgen/274" ref="tree=GTR&ncbi_uid=274&link_uid=274" title="View MedGen record for 'Amyotrophic lateral sclerosis'">Amyotrophic lateral sclerosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1862939[DISCUI]&test_type=Clinical" ref="ncbi_uid=400169">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400169" target="_blank" href="/omim/105400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=400169">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400169" ref="ncbi_uid=400169">V</a></span></span><span class="TLline"><a href="/medgen/400169" ref="tree=GTR&ncbi_uid=400169&link_uid=400169" title="View MedGen record for 'Amyotrophic lateral sclerosis type 1'">Amyotrophic lateral sclerosis type 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339829" target="_blank" href="/omim/606640">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=339829">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/339829" ref="tree=GTR&ncbi_uid=339829&link_uid=339829" title="View MedGen record for 'Amyotrophic lateral sclerosis type 3'">Amyotrophic lateral sclerosis type 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865409[DISCUI]&test_type=Clinical" ref="ncbi_uid=355983">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355983" target="_blank" href="/omim/602433">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=355983">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=355983" ref="ncbi_uid=355983">V</a></span></span><span class="TLline"><a href="/medgen/355983" ref="tree=GTR&ncbi_uid=355983&link_uid=355983" title="View MedGen record for 'Amyotrophic lateral sclerosis type 4'">Amyotrophic lateral sclerosis type 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931786[DISCUI]&test_type=Clinical" ref="ncbi_uid=419901">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=419901" target="_blank" href="/omim/137070">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=419901">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419901" ref="ncbi_uid=419901">V</a></span></span><span class="TLline"><a href="/medgen/419901" ref="tree=GTR&ncbi_uid=419901&link_uid=419901" title="View MedGen record for 'Amyotrophic lateral sclerosis type 6'">Amyotrophic lateral sclerosis type 6</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413027" target="_blank" href="/omim/137070">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=413027" ref="ncbi_uid=413027">V</a></span></span><span class="TLline"><a href="/medgen/413027" ref="tree=GTR&ncbi_uid=413027&link_uid=413027" title="View MedGen record for 'Amyotrophic lateral sclerosis 6, autosomal recessive'">Amyotrophic lateral sclerosis 6, autosomal recessive</a></span></li></ul></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334136" target="_blank" href="/omim/608031">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=334136">G</a></span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Amyotrophic lateral sclerosis type 7</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837728[DISCUI]&test_type=Clinical" ref="ncbi_uid=325237">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325237" target="_blank" href="/omim/605704">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=325237">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325237" ref="ncbi_uid=325237">V</a></span></span><span class="TLline"><a href="/medgen/325237" ref="tree=GTR&ncbi_uid=325237&link_uid=325237" title="View MedGen record for 'Amyotrophic lateral sclerosis type 8'">Amyotrophic lateral sclerosis type 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678468[DISCUI]&test_type=Clinical" ref="ncbi_uid=395629">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395629" target="_blank" href="/omim/105850">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=395629">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395629" ref="ncbi_uid=395629">V</a></span></span><span class="TLline"><a href="/medgen/395629" ref="tree=GTR&ncbi_uid=395629&link_uid=395629" title="View MedGen record for 'Amyotrophic lateral sclerosis type 9'">Amyotrophic lateral sclerosis type 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677565[DISCUI]&test_type=Clinical" ref="ncbi_uid=383137">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383137" target="_blank" href="/omim/612069">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1450%20OR%20NBK5942)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=383137">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383137" ref="ncbi_uid=383137">V</a></span></span><span class="TLline"><a href="/medgen/383137" ref="tree=GTR&ncbi_uid=383137&link_uid=383137" title="View MedGen record for 'Amyotrophic lateral sclerosis type 10'">Amyotrophic lateral sclerosis type 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675491[DISCUI]&test_type=Clinical" ref="ncbi_uid=393399">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=393399" target="_blank" href="/omim/609390">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=393399">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=393399" ref="ncbi_uid=393399">V</a></span></span><span class="TLline"><a href="/medgen/393399" ref="tree=GTR&ncbi_uid=393399&link_uid=393399" title="View MedGen record for 'Amyotrophic lateral sclerosis type 11'">Amyotrophic lateral sclerosis type 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3468114[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=923704">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=923704" ref="ncbi_uid=923704">V</a></span></span><span class="TLline"><a href="/medgen/923704" ref="tree=GTR&ncbi_uid=923704&link_uid=923704" title="View MedGen record for 'Juvenile amyotrophic lateral sclerosis'">Juvenile amyotrophic lateral sclerosis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1865864[DISCUI]&test_type=Clinical" ref="ncbi_uid=356388">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356388" target="_blank" href="/omim/602099">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=356388">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356388" ref="ncbi_uid=356388">V</a></span></span><span class="TLline"><a href="/medgen/356388" ref="tree=GTR&ncbi_uid=356388&link_uid=356388" title="View MedGen record for 'Amyotrophic lateral sclerosis type 5'">Amyotrophic lateral sclerosis type 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280587[DISCUI]&test_type=Clinical" ref="ncbi_uid=482217">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482217" target="_blank" href="/omim/601978">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1450/" ref="ncbi_uid=482217">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482217" ref="ncbi_uid=482217">V</a></span></span><span class="TLline"><a href="/medgen/482217" ref="tree=GTR&ncbi_uid=482217&link_uid=482217" title="View MedGen record for 'Amyotrophic lateral sclerosis type 16'">Amyotrophic lateral sclerosis type 16</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859807[DISCUI]&test_type=Clinical" ref="ncbi_uid=349246">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349246" target="_blank" href="/omim/205100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1243%20OR%20NBK1450)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=349246">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349246" ref="ncbi_uid=349246">V</a></span></span><span class="TLline"><a href="/medgen/349246" ref="tree=GTR&ncbi_uid=349246&link_uid=349246" title="View MedGen record for 'Amyotrophic lateral sclerosis type 2, juvenile'">Amyotrophic lateral sclerosis type 2, juvenile</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/311052" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder">Non-Neoplastic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/317955" ref="tree=MeSH" title="MedGen record for Non-Neoplastic Disorder by Special Category">Non-Neoplastic Disorder by Special Category</a></span><ul><li><span class="TLline"><a href="/medgen/224837" ref="tree=MeSH" title="MedGen record for Degenerative disorder">Degenerative disorder</a></span><ul><li><span class="TLline"><a href="/medgen/124363" ref="tree=MeSH" title="MedGen record for Degenerative disease of the central nervous system">Degenerative disease of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/274" ref="tree=MeSH" title="MedGen record for Amyotrophic lateral sclerosis">Amyotrophic lateral sclerosis</a></span><ul><li><span class="matched_ds">Amyotrophic lateral sclerosis type 7</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_105">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
||
Ellis C,
|
||
Brassington R,
|
||
Sathasivam S,
|
||
Young CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 20;5(5):CD006981.
|
||
doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32006461">Drug treatment for spinal muscular atrophy types II and III.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
van der Pol WL,
|
||
Bosboom WM,
|
||
Asselman FL,
|
||
van den Berg LH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jan 6;1(1):CD006282.
|
||
doi: 10.1002/14651858.CD006282.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32006461" target="_blank">32006461</a><a href="/pmc/articles/PMC6995983" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31825542">Drug treatment for spinal muscular atrophy type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wadman RI,
|
||
van der Pol WL,
|
||
Bosboom WM,
|
||
Asselman FL,
|
||
van den Berg LH,
|
||
Iannaccone ST,
|
||
Vrancken AF</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2019 Dec 11;12(12):CD006281.
|
||
doi: 10.1002/14651858.CD006281.pub5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31825542" target="_blank">31825542</a><a href="/pmc/articles/PMC6905354" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(amyotrophic%20lateral%20sclerosis%20type%207)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (14)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.orpha.net/data/patho/Pro/en/Emergency_AmyotrophicLateralSclerosis.pdf" target="_blank">Orphanet, Amyotrophic lateral sclerosis, 2007</a></h3>
|
||
</div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
||
Ellis C,
|
||
Brassington R,
|
||
Sathasivam S,
|
||
Young CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 20;5(5):CD006981.
|
||
doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34906131">Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larsson SC,
|
||
Burgess S</span><br />
|
||
<span class="medgenPMjournal">BMC Med</span>
|
||
2021 Dec 15;19(1):320.
|
||
doi: 10.1186/s12916-021-02188-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34906131" target="_blank">34906131</a><a href="/pmc/articles/PMC8672504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31690614">Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chatwin M,
|
||
Simonds AK</span><br />
|
||
<span class="medgenPMjournal">Respir Care</span>
|
||
2020 Feb;65(2):135-143.
|
||
Epub 2019 Nov 5
|
||
doi: 10.4187/respcare.06882.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31690614" target="_blank">31690614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26563614">SOD1 in neurotoxicity and its controversial roles in SOD1 mutation-negative ALS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayashi Y,
|
||
Homma K,
|
||
Ichijo H</span><br />
|
||
<span class="medgenPMjournal">Adv Biol Regul</span>
|
||
2016 Jan;60:95-104.
|
||
Epub 2015 Oct 31
|
||
doi: 10.1016/j.jbior.2015.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26563614" target="_blank">26563614</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23827971">Impaired autophagy and APP processing in Alzheimer's disease: The potential role of Beclin 1 interactome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salminen A,
|
||
Kaarniranta K,
|
||
Kauppinen A,
|
||
Ojala J,
|
||
Haapasalo A,
|
||
Soininen H,
|
||
Hiltunen M</span><br />
|
||
<span class="medgenPMjournal">Prog Neurobiol</span>
|
||
2013 Jul-Aug;106-107:33-54.
|
||
Epub 2013 Jul 1
|
||
doi: 10.1016/j.pneurobio.2013.06.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23827971" target="_blank">23827971</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%207%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (121)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39010704">Sodium-glucose cotransporter 1/2 inhibition and risk of neurodegenerative disorders: A Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
|
||
Shi X,
|
||
Shao Y</span><br />
|
||
<span class="medgenPMjournal">Brain Behav</span>
|
||
2024 Jul;14(7):e3624.
|
||
doi: 10.1002/brb3.3624.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39010704" target="_blank">39010704</a><a href="/pmc/articles/PMC11250420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37532939">TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arseni D,
|
||
Chen R,
|
||
Murzin AG,
|
||
Peak-Chew SY,
|
||
Garringer HJ,
|
||
Newell KL,
|
||
Kametani F,
|
||
Robinson AC,
|
||
Vidal R,
|
||
Ghetti B,
|
||
Hasegawa M,
|
||
Ryskeldi-Falcon B</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2023 Aug;620(7975):898-903.
|
||
Epub 2023 Aug 2
|
||
doi: 10.1038/s41586-023-06405-w.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/31690614">Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chatwin M,
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<span class="bold">PMID: </span><a href="/pubmed/31690614" target="_blank">31690614</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%207%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (94)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38606777">Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Babu S,
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Nicholson KA,
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Swenson A,
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Pant P,
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Paganoni S,
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<span class="bold">PMID: </span><a href="/pubmed/38606777" target="_blank">38606777</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">James E,
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Ellis C,
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<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34906131">Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Larsson SC,
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doi: 10.1186/s12916-021-02188-x.
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<span class="bold">PMID: </span><a href="/pubmed/34906131" target="_blank">34906131</a><a href="/pmc/articles/PMC8672504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%207%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (52)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37073502">Type 2 diabetes, obesity, and risk of amyotrophic lateral sclerosis: A population-based cohort study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Skajaa N,
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Riahi EB,
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Szépligeti SK,
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Henderson VW,
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<span class="bold">PMID: </span><a href="/pubmed/37073502" target="_blank">37073502</a><a href="/pmc/articles/PMC10275529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/36804094">Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thornton CA,
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Moxley RT 3rd,
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Eichinger K,
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Heatwole C,
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Mignon L,
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Arnold WD,
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Ashizawa T,
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Day JW,
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Dent G,
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Tanner MK,
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Duong T,
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Greene EP,
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Herbelin L,
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Johnson NE,
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King W,
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Kissel JT,
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Leung DG,
|
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Lott DJ,
|
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Norris DA,
|
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Pucillo EM,
|
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Schell W,
|
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Statland JM,
|
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Stinson N,
|
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Subramony SH,
|
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Xia S,
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Bishop KM,
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Bennett CF</span><br />
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<span class="medgenPMjournal">Lancet Neurol</span>
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2023 Mar;22(3):218-228.
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doi: 10.1016/S1474-4422(23)00001-7.
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<span class="bold">PMID: </span><a href="/pubmed/36804094" target="_blank">36804094</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35584112">Alterations in metabolic biomarkers and their potential role in amyotrophic lateral sclerosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Li JY,
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Cui LY,
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Sun XH,
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Shen DC,
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Yang XZ,
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Liu Q,
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<span class="bold">PMID: </span><a href="/pubmed/35584112" target="_blank">35584112</a><a href="/pmc/articles/PMC9268864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34906131">Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Larsson SC,
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Burgess S</span><br />
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<span class="medgenPMjournal">BMC Med</span>
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2021 Dec 15;19(1):320.
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doi: 10.1186/s12916-021-02188-x.
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<span class="bold">PMID: </span><a href="/pubmed/34906131" target="_blank">34906131</a><a href="/pmc/articles/PMC8672504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/31690614">Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Chatwin M,
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Simonds AK</span><br />
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<span class="medgenPMjournal">Respir Care</span>
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2020 Feb;65(2):135-143.
|
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Epub 2019 Nov 5
|
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doi: 10.4187/respcare.06882.
|
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<span class="bold">PMID: </span><a href="/pubmed/31690614" target="_blank">31690614</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%207%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (67)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38606777">Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Babu S,
|
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Nicholson KA,
|
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Rothstein JD,
|
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Swenson A,
|
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Sampognaro PJ,
|
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Pant P,
|
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Macklin EA,
|
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Spruill S,
|
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Paganoni S,
|
||
Gendron TF,
|
||
Prudencio M,
|
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Petrucelli L,
|
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Nix D,
|
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Landrette S,
|
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Nkrumah E,
|
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Fandrick K,
|
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Edwards J,
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Young PR</span><br />
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<span class="medgenPMjournal">Brain</span>
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2024 Sep 3;147(9):2998-3008.
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doi: 10.1093/brain/awae109.
|
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<span class="bold">PMID: </span><a href="/pubmed/38606777" target="_blank">38606777</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37532939">TDP-43 forms amyloid filaments with a distinct fold in type A FTLD-TDP.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arseni D,
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Chen R,
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Murzin AG,
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Peak-Chew SY,
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Garringer HJ,
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Newell KL,
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Kametani F,
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Robinson AC,
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Vidal R,
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<span class="medgenPMjournal">Nature</span>
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<span class="bold">PMID: </span><a href="/pubmed/37532939" target="_blank">37532939</a><a href="/pmc/articles/PMC10447236" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/37339631">CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kume K,
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Kurashige T,
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Muguruma K,
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Morino H,
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Miyamoto T,
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Nakamura M,
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Riku Y,
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Aoki Y,
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Izumi Y,
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<span class="bold">PMID: </span><a href="/pubmed/37339631" target="_blank">37339631</a><a href="/pmc/articles/PMC10357476" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
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Ellis C,
|
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Brassington R,
|
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Sathasivam S,
|
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Young CA</span><br />
|
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
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2022 May 20;5(5):CD006981.
|
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doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34906131">Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larsson SC,
|
||
Burgess S</span><br />
|
||
<span class="medgenPMjournal">BMC Med</span>
|
||
2021 Dec 15;19(1):320.
|
||
doi: 10.1186/s12916-021-02188-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34906131" target="_blank">34906131</a><a href="/pmc/articles/PMC8672504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%207%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (147)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35593746">Treatment for sialorrhea (excessive saliva) in people with motor neuron disease/amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James E,
|
||
Ellis C,
|
||
Brassington R,
|
||
Sathasivam S,
|
||
Young CA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2022 May 20;5(5):CD006981.
|
||
doi: 10.1002/14651858.CD006981.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35593746" target="_blank">35593746</a><a href="/pmc/articles/PMC9121913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34906131">Causal role of high body mass index in multiple chronic diseases: a systematic review and meta-analysis of Mendelian randomization studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Larsson SC,
|
||
Burgess S</span><br />
|
||
<span class="medgenPMjournal">BMC Med</span>
|
||
2021 Dec 15;19(1):320.
|
||
doi: 10.1186/s12916-021-02188-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34906131" target="_blank">34906131</a><a href="/pmc/articles/PMC8672504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33661072">Prevalence of pain in amyotrophic lateral sclerosis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hurwitz N,
|
||
Radakovic R,
|
||
Boyce E,
|
||
Peryer G</span><br />
|
||
<span class="medgenPMjournal">Amyotroph Lateral Scler Frontotemporal Degener</span>
|
||
2021 Nov;22(7-8):449-458.
|
||
Epub 2021 Mar 4
|
||
doi: 10.1080/21678421.2021.1892765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33661072" target="_blank">33661072</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33136137">Burden of Neurological Disorders Across the US From 1990-2017: A Global Burden of Disease Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">GBD 2017 US Neurological Disorders Collaborators,
|
||
Feigin VL,
|
||
Vos T,
|
||
Alahdab F,
|
||
Amit AML,
|
||
Bärnighausen TW,
|
||
Beghi E,
|
||
Beheshti M,
|
||
Chavan PP,
|
||
Criqui MH,
|
||
Desai R,
|
||
Dhamminda Dharmaratne S,
|
||
Dorsey ER,
|
||
Wilder Eagan A,
|
||
Elgendy IY,
|
||
Filip I,
|
||
Giampaoli S,
|
||
Giussani G,
|
||
Hafezi-Nejad N,
|
||
Hole MK,
|
||
Ikeda T,
|
||
Owens Johnson C,
|
||
Kalani R,
|
||
Khatab K,
|
||
Khubchandani J,
|
||
Kim D,
|
||
Koroshetz WJ,
|
||
Krishnamoorthy V,
|
||
Krishnamurthi RV,
|
||
Liu X,
|
||
Lo WD,
|
||
Logroscino G,
|
||
Mensah GA,
|
||
Miller TR,
|
||
Mohammed S,
|
||
Mokdad AH,
|
||
Moradi-Lakeh M,
|
||
Morrison SD,
|
||
Shivamurthy VKN,
|
||
Naghavi M,
|
||
Nichols E,
|
||
Norrving B,
|
||
Odell CM,
|
||
Pupillo E,
|
||
Radfar A,
|
||
Roth GA,
|
||
Shafieesabet A,
|
||
Sheikh A,
|
||
Sheikhbahaei S,
|
||
Shin JI,
|
||
Singh JA,
|
||
Steiner TJ,
|
||
Stovner LJ,
|
||
Wallin MT,
|
||
Weiss J,
|
||
Wu C,
|
||
Zunt JR,
|
||
Adelson JD,
|
||
Murray CJL</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2021 Feb 1;78(2):165-176.
|
||
doi: 10.1001/jamaneurol.2020.4152.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33136137" target="_blank">33136137</a><a href="/pmc/articles/PMC7607495" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28831083">Increased peripheral blood inflammatory cytokine levels in amyotrophic lateral sclerosis: a meta-analysis study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu Y,
|
||
Cao C,
|
||
Qin XY,
|
||
Yu Y,
|
||
Yuan J,
|
||
Zhao Y,
|
||
Cheng Y</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Aug 22;7(1):9094.
|
||
doi: 10.1038/s41598-017-09097-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28831083" target="_blank">28831083</a><a href="/pmc/articles/PMC5567306" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%207%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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<div class=" bottom">
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||
</div>
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||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608031" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Amyotrophic%20lateral%20sclerosis%20type%207" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(amyotrophic%20lateral%20sclerosis%20type%207)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.orpha.net/data/patho/Pro/en/Emergency_AmyotrophicLateralSclerosis.pdf">Orphanet, 2007</a><div>Orphanet, Amyotrophic lateral sclerosis, 2007</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul><li><a href="https://catalog.coriell.org/Search?q=608031" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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</div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/amyotrophic_lateral_sclerosis_7" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Amyotrophic%20lateral%20sclerosis%20type%207" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10500/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Reviews</h3>
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</div>
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<li>
|
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<a href="/pubmed/20301623" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
<li>
|
||
<a href="/pubmed/clinical?term=Amyotrophic%20lateral%20sclerosis%20type%207" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<li>
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||
<a href="/pubmed?term=Amyotrophic%20lateral%20sclerosis%20type%207%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
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|
||
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|
||
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||
|
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||
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<h3>Related information</h3>
|
||
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|
||
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<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=334136" ref="log$=recordlinks">MeSH</a>
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<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
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<a class="brieflinkpopperctrl" href="/books?LinkName=medgen_books&from_uid=334136" ref="log$=recordlinks">NCBI Bookshelf</a>
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Bookshelf</div>
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<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=334136" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
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|
||
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|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=334136" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
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|
||
<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=334136" ref="log$=recordlinks">PubMed (OMIM)</a>
|
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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|
||
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|
||
|
||
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||
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||
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<h3>Recent activity</h3>
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|
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||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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||
Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
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|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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|
||
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|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d2f24f84f3725e593166e6">Amyotrophic lateral sclerosis type 7</a>
|
||
<div class="ralinkpop offscreen_noflow">Amyotrophic lateral sclerosis type 7<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
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</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d2f24d67c23b31e0b24a3a">Amyotrophic lateral sclerosis type 3</a>
|
||
<div class="ralinkpop offscreen_noflow">Amyotrophic lateral sclerosis type 3<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d2f24867c23b31e0b224c4">Amyotrophic lateral sclerosis type 4</a>
|
||
<div class="ralinkpop offscreen_noflow">Amyotrophic lateral sclerosis type 4<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
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