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<!--
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||
UID=393399
|
||
ConceptID=C2675491
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Amyotrophic lateral sclerosis type 11<span class="h1sub">(ALS11)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393399</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.">C2675491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ALS11; FIG4-Related Amyotrophic Lateral Sclerosis</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FIG4 - ID: 9896 - NCBI Gene" href="/gene/9896" class="medgenPMinfo">FIG4</a> (6q21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012945" target="_blank">MONDO:0012945</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612577" target="_blank">612577</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">An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_274"><div><strong>Amyotrophic lateral sclerosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>274</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.">C0002736</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement.\n\nThere are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS.\n\nThe first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals.\n\nApproximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD.\n\nA rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/274">Feature record</a> | <a href="/medgen?term=%22Amyotrophic%20lateral%20sclerosis%22%5BClinical%20Features%5D%20OR%20274%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333241"><div><strong>Upper motor neuron dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333241</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.">C1839042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333241">Feature record</a> | <a href="/medgen?term=%22Upper%20motor%20neuron%20dysfunction%22%5BClinical%20Features%5D%20OR%20333241%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347246"><div><strong>Bulbar signs</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347246</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.">C1856507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347246">Feature record</a> | <a href="/medgen?term=%22Bulbar%20signs%22%5BClinical%20Features%5D%20OR%20347246%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_347509"><div><strong>Decreased nerve conduction velocity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347509</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.">C1857640</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in the speed at which electrical signals propagate along the axon of a neuron.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347509">Feature record</a> | <a href="/medgen?term=%22Decreased%20nerve%20conduction%20velocity%22%5BClinical%20Features%5D%20OR%20347509%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1790456"><div><strong>Somatic sensory dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1790456</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.">C5551413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1790456">Feature record</a> | <a href="/medgen?term=%22Somatic%20sensory%20dysfunction%22%5BClinical%20Features%5D%20OR%201790456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892680"><div><strong>Muscular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892680</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.">C0541794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of skeletal muscular atrophy (which is also known as amyotrophy).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892680">Feature record</a> | <a href="/medgen?term=%22Muscular%20atrophy%22%5BClinical%20Features%5D%20OR%20892680%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892680" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular atrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyotrophic lateral sclerosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bulbar signs</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_347509" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased nerve conduction velocity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1790456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Somatic sensory dysfunction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333241" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Upper motor neuron dysfunction</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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="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=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"><a href="/medgen/334136" ref="tree=GTR&ncbi_uid=334136&link_uid=334136" title="View MedGen record for 'Amyotrophic lateral sclerosis type 7'">Amyotrophic lateral sclerosis type 7</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=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="matched_ds"><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">Amyotrophic lateral sclerosis type 11</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 11</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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/30180501">Genetic testing in amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakken O,
|
||
Sørum L,
|
||
Holmøy T</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2018 Sep 4;138(13)
|
||
Epub 2018 Sep 3
|
||
doi: 10.4045/tidsskr.18.0193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30180501" target="_blank">30180501</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(amyotrophic%20lateral%20sclerosis%20type%2011)%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 (7)</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/38402886">Sunitinib for metastatic progressive phaeochromocytomas and paragangliomas: results from FIRSTMAPPP, an academic, multicentre, international, randomised, placebo-controlled, double-blind, phase 2 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baudin E,
|
||
Goichot B,
|
||
Berruti A,
|
||
Hadoux J,
|
||
Moalla S,
|
||
Laboureau S,
|
||
Nölting S,
|
||
de la Fouchardière C,
|
||
Kienitz T,
|
||
Deutschbein T,
|
||
Zovato S,
|
||
Amar L,
|
||
Haissaguerre M,
|
||
Timmers H,
|
||
Niccoli P,
|
||
Faggiano A,
|
||
Angokai M,
|
||
Lamartina L,
|
||
Luca F,
|
||
Cosentini D,
|
||
Hahner S,
|
||
Beuschlein F,
|
||
Attard M,
|
||
Texier M,
|
||
Fassnacht M;
|
||
ENDOCAN-COMETE;
|
||
ENSAT Networks</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2024 Mar 16;403(10431):1061-1070.
|
||
Epub 2024 Feb 22
|
||
doi: 10.1016/S0140-6736(23)02554-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38402886" target="_blank">38402886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36845101">Multisite chronic pain and the risk of autoimmune diseases: A Mendelian randomization study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tang Y,
|
||
Liu W,
|
||
Kong W,
|
||
Zhang S,
|
||
Zhu T</span><br />
|
||
<span class="medgenPMjournal">Front Immunol</span>
|
||
2023;14:1077088.
|
||
Epub 2023 Feb 9
|
||
doi: 10.3389/fimmu.2023.1077088.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36845101" target="_blank">36845101</a><a href="/pmc/articles/PMC9947645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36759259">Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ge YJ,
|
||
Ou YN,
|
||
Deng YT,
|
||
Wu BS,
|
||
Yang L,
|
||
Zhang YR,
|
||
Chen SD,
|
||
Huang YY,
|
||
Dong Q,
|
||
Tan L,
|
||
Yu JT;
|
||
International FTD-Genomics Consortium</span><br />
|
||
<span class="medgenPMjournal">Biol Psychiatry</span>
|
||
2023 May 1;93(9):770-779.
|
||
Epub 2022 Nov 9
|
||
doi: 10.1016/j.biopsych.2022.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36759259" target="_blank">36759259</a></div>
|
||
|
||
<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/29566793">Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolas A,
|
||
Kenna KP,
|
||
Renton AE,
|
||
Ticozzi N,
|
||
Faghri F,
|
||
Chia R,
|
||
Dominov JA,
|
||
Kenna BJ,
|
||
Nalls MA,
|
||
Keagle P,
|
||
Rivera AM,
|
||
van Rheenen W,
|
||
Murphy NA,
|
||
van Vugt JJFA,
|
||
Geiger JT,
|
||
Van der Spek RA,
|
||
Pliner HA,
|
||
Shankaracharya,
|
||
Smith BN,
|
||
Marangi G,
|
||
Topp SD,
|
||
Abramzon Y,
|
||
Gkazi AS,
|
||
Eicher JD,
|
||
Kenna A;
|
||
ITALSGEN Consortium,
|
||
Mora G,
|
||
Calvo A,
|
||
Mazzini L,
|
||
Riva N,
|
||
Mandrioli J,
|
||
Caponnetto C,
|
||
Battistini S,
|
||
Volanti P,
|
||
La Bella V,
|
||
Conforti FL,
|
||
Borghero G,
|
||
Messina S,
|
||
Simone IL,
|
||
Trojsi F,
|
||
Salvi F,
|
||
Logullo FO,
|
||
D'Alfonso S,
|
||
Corrado L,
|
||
Capasso M,
|
||
Ferrucci L;
|
||
Genomic Translation for ALS Care (GTAC) Consortium,
|
||
Moreno CAM,
|
||
Kamalakaran S,
|
||
Goldstein DB;
|
||
ALS Sequencing Consortium,
|
||
Gitler AD,
|
||
Harris T,
|
||
Myers RM;
|
||
NYGC ALS Consortium,
|
||
Phatnani H,
|
||
Musunuri RL,
|
||
Evani US,
|
||
Abhyankar A,
|
||
Zody MC;
|
||
Answer ALS Foundation,
|
||
Kaye J,
|
||
Finkbeiner S,
|
||
Wyman SK,
|
||
LeNail A,
|
||
Lima L,
|
||
Fraenkel E,
|
||
Svendsen CN,
|
||
Thompson LM,
|
||
Van Eyk JE,
|
||
Berry JD,
|
||
Miller TM,
|
||
Kolb SJ,
|
||
Cudkowicz M,
|
||
Baxi E;
|
||
Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium,
|
||
Benatar M,
|
||
Taylor JP,
|
||
Rampersaud E,
|
||
Wu G,
|
||
Wuu J;
|
||
SLAGEN Consortium,
|
||
Lauria G,
|
||
Verde F,
|
||
Fogh I,
|
||
Tiloca C,
|
||
Comi GP,
|
||
Sorarù G,
|
||
Cereda C;
|
||
French ALS Consortium,
|
||
Corcia P,
|
||
Laaksovirta H,
|
||
Myllykangas L,
|
||
Jansson L,
|
||
Valori M,
|
||
Ealing J,
|
||
Hamdalla H,
|
||
Rollinson S,
|
||
Pickering-Brown S,
|
||
Orrell RW,
|
||
Sidle KC,
|
||
Malaspina A,
|
||
Hardy J,
|
||
Singleton AB,
|
||
Johnson JO,
|
||
Arepalli S,
|
||
Sapp PC,
|
||
McKenna-Yasek D,
|
||
Polak M,
|
||
Asress S,
|
||
Al-Sarraj S,
|
||
King A,
|
||
Troakes C,
|
||
Vance C,
|
||
de Belleroche J,
|
||
Baas F,
|
||
Ten Asbroek ALMA,
|
||
Muñoz-Blanco JL,
|
||
Hernandez DG,
|
||
Ding J,
|
||
Gibbs JR,
|
||
Scholz SW,
|
||
Floeter MK,
|
||
Campbell RH,
|
||
Landi F,
|
||
Bowser R,
|
||
Pulst SM,
|
||
Ravits JM,
|
||
MacGowan DJL,
|
||
Kirby J,
|
||
Pioro EP,
|
||
Pamphlett R,
|
||
Broach J,
|
||
Gerhard G,
|
||
Dunckley TL,
|
||
Brady CB,
|
||
Kowall NW,
|
||
Troncoso JC,
|
||
Le Ber I,
|
||
Mouzat K,
|
||
Lumbroso S,
|
||
Heiman-Patterson TD,
|
||
Kamel F,
|
||
Van Den Bosch L,
|
||
Baloh RH,
|
||
Strom TM,
|
||
Meitinger T,
|
||
Shatunov A,
|
||
Van Eijk KR,
|
||
de Carvalho M,
|
||
Kooyman M,
|
||
Middelkoop B,
|
||
Moisse M,
|
||
McLaughlin RL,
|
||
Van Es MA,
|
||
Weber M,
|
||
Boylan KB,
|
||
Van Blitterswijk M,
|
||
Rademakers R,
|
||
Morrison KE,
|
||
Basak AN,
|
||
Mora JS,
|
||
Drory VE,
|
||
Shaw PJ,
|
||
Turner MR,
|
||
Talbot K,
|
||
Hardiman O,
|
||
Williams KL,
|
||
Fifita JA,
|
||
Nicholson GA,
|
||
Blair IP,
|
||
Rouleau GA,
|
||
Esteban-Pérez J,
|
||
García-Redondo A,
|
||
Al-Chalabi A;
|
||
Project MinE ALS Sequencing Consortium,
|
||
Rogaeva E,
|
||
Zinman L,
|
||
Ostrow LW,
|
||
Maragakis NJ,
|
||
Rothstein JD,
|
||
Simmons Z,
|
||
Cooper-Knock J,
|
||
Brice A,
|
||
Goutman SA,
|
||
Feldman EL,
|
||
Gibson SB,
|
||
Taroni F,
|
||
Ratti A,
|
||
Gellera C,
|
||
Van Damme P,
|
||
Robberecht W,
|
||
Fratta P,
|
||
Sabatelli M,
|
||
Lunetta C,
|
||
Ludolph AC,
|
||
Andersen PM,
|
||
Weishaupt JH,
|
||
Camu W,
|
||
Trojanowski JQ,
|
||
Van Deerlin VM,
|
||
Brown RH Jr,
|
||
van den Berg LH,
|
||
Veldink JH,
|
||
Harms MB,
|
||
Glass JD,
|
||
Stone DJ,
|
||
Tienari P,
|
||
Silani V,
|
||
Chiò A,
|
||
Shaw CE,
|
||
Traynor BJ,
|
||
Landers JE</span><br />
|
||
<span class="medgenPMjournal">Neuron</span>
|
||
2018 Mar 21;97(6):1267-1288.
|
||
doi: 10.1016/j.neuron.2018.02.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29566793" target="_blank">29566793</a><a href="/pmc/articles/PMC5867896" 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%2011%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 (88)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39424561">CNS disease associated with enhanced type I interferon signalling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crow YJ</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2024 Nov;23(11):1158-1168.
|
||
doi: 10.1016/S1474-4422(24)00263-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39424561" target="_blank">39424561</a><a href="/pmc/articles/PMC7616788" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36759259">Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ge YJ,
|
||
Ou YN,
|
||
Deng YT,
|
||
Wu BS,
|
||
Yang L,
|
||
Zhang YR,
|
||
Chen SD,
|
||
Huang YY,
|
||
Dong Q,
|
||
Tan L,
|
||
Yu JT;
|
||
International FTD-Genomics Consortium</span><br />
|
||
<span class="medgenPMjournal">Biol Psychiatry</span>
|
||
2023 May 1;93(9):770-779.
|
||
Epub 2022 Nov 9
|
||
doi: 10.1016/j.biopsych.2022.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36759259" target="_blank">36759259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35159348">ISG15 and ISGylation in Human Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mirzalieva O,
|
||
Juncker M,
|
||
Schwartzenburg J,
|
||
Desai S</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Feb 4;11(3)
|
||
doi: 10.3390/cells11030538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35159348" target="_blank">35159348</a><a href="/pmc/articles/PMC8834048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30180501">Genetic testing in amyotrophic lateral sclerosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakken O,
|
||
Sørum L,
|
||
Holmøy T</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2018 Sep 4;138(13)
|
||
Epub 2018 Sep 3
|
||
doi: 10.4045/tidsskr.18.0193.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30180501" target="_blank">30180501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29566793">Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nicolas A,
|
||
Kenna KP,
|
||
Renton AE,
|
||
Ticozzi N,
|
||
Faghri F,
|
||
Chia R,
|
||
Dominov JA,
|
||
Kenna BJ,
|
||
Nalls MA,
|
||
Keagle P,
|
||
Rivera AM,
|
||
van Rheenen W,
|
||
Murphy NA,
|
||
van Vugt JJFA,
|
||
Geiger JT,
|
||
Van der Spek RA,
|
||
Pliner HA,
|
||
Shankaracharya,
|
||
Smith BN,
|
||
Marangi G,
|
||
Topp SD,
|
||
Abramzon Y,
|
||
Gkazi AS,
|
||
Eicher JD,
|
||
Kenna A;
|
||
ITALSGEN Consortium,
|
||
Mora G,
|
||
Calvo A,
|
||
Mazzini L,
|
||
Riva N,
|
||
Mandrioli J,
|
||
Caponnetto C,
|
||
Battistini S,
|
||
Volanti P,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%2011%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 (74)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38402886">Sunitinib for metastatic progressive phaeochromocytomas and paragangliomas: results from FIRSTMAPPP, an academic, multicentre, international, randomised, placebo-controlled, double-blind, phase 2 trial.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36845101">Multisite chronic pain and the risk of autoimmune diseases: A Mendelian randomization study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tang Y,
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Liu W,
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<div class="nl"><a target="_blank" href="/pubmed/36759259">Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ge YJ,
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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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Brassington R,
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2022 May 20;5(5):CD006981.
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doi: 10.1002/14651858.CD006981.pub3.
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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/34171091">Type 2 Diabetes Mellitus and Amyotrophic Lateral Sclerosis: Genetic Overlap, Causality, and Mediation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chen H,
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Zhang J,
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Wang T,
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<span class="bold">PMID: </span><a href="/pubmed/34171091" target="_blank">34171091</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%2011%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 (32)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37202167">Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chiò A,
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<span class="bold">PMID: </span><a href="/pubmed/37202167" target="_blank">37202167</a><a href="/pmc/articles/PMC10351316" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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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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Horváth-Puhó E,
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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/36845101">Multisite chronic pain and the risk of autoimmune diseases: A Mendelian randomization study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tang Y,
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Liu W,
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Kong W,
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Zhang S,
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Zhu T</span><br />
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Epub 2023 Feb 9
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doi: 10.3389/fimmu.2023.1077088.
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<span class="bold">PMID: </span><a href="/pubmed/36845101" target="_blank">36845101</a><a href="/pmc/articles/PMC9947645" 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/35326500">Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dorn GW 2nd,
|
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Dang X</span><br />
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<span class="medgenPMjournal">Cells</span>
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2022 Mar 19;11(6)
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doi: 10.3390/cells11061049.
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<span class="bold">PMID: </span><a href="/pubmed/35326500" target="_blank">35326500</a><a href="/pmc/articles/PMC8947719" 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/35159348">ISG15 and ISGylation in Human Diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mirzalieva O,
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Juncker M,
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Schwartzenburg J,
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Desai S</span><br />
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2022 Feb 4;11(3)
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<span class="bold">PMID: </span><a href="/pubmed/35159348" target="_blank">35159348</a><a href="/pmc/articles/PMC8834048" 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%2011%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37723585">A toxic gain-of-function mechanism in C9orf72 ALS impairs the autophagy-lysosome pathway in neurons.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beckers J,
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Tharkeshwar AK,
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Fumagalli L,
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Contardo M,
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Fazal R,
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Thal DR,
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<span class="bold">PMID: </span><a href="/pubmed/37723585" target="_blank">37723585</a><a href="/pmc/articles/PMC10506245" 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/36845101">Multisite chronic pain and the risk of autoimmune diseases: A Mendelian randomization study.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Tang Y,
|
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Liu W,
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Kong W,
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Zhang S,
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Zhu T</span><br />
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2023;14:1077088.
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Epub 2023 Feb 9
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doi: 10.3389/fimmu.2023.1077088.
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<span class="bold">PMID: </span><a href="/pubmed/36845101" target="_blank">36845101</a><a href="/pmc/articles/PMC9947645" 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/36525626">Profiles of Dysarthria and Dysphagia in Individuals With Amyotrophic Lateral Sclerosis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Donohue C,
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Gray LT,
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Anderson A,
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DiBiase L,
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Wymer JP,
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Plowman EK</span><br />
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Epub 2022 Dec 16
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doi: 10.1044/2022_JSLHR-22-00312.
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<span class="bold">PMID: </span><a href="/pubmed/36525626" target="_blank">36525626</a><a href="/pmc/articles/PMC10023186" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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,
|
||
Sathasivam S,
|
||
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.
|
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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>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35326500">Predicting Mitochondrial Dynamic Behavior in Genetically Defined Neurodegenerative Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dorn GW 2nd,
|
||
Dang X</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2022 Mar 19;11(6)
|
||
doi: 10.3390/cells11061049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35326500" target="_blank">35326500</a><a href="/pmc/articles/PMC8947719" 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%2011%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 (101)</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/37210484">Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jandhyala R</span><br />
|
||
<span class="medgenPMjournal">BMC Med Res Methodol</span>
|
||
2023 May 20;23(1):121.
|
||
doi: 10.1186/s12874-023-01947-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37210484" target="_blank">37210484</a><a href="/pmc/articles/PMC10199426" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<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/27668807">Genome Editing of Monogenic Neuromuscular Diseases: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long C,
|
||
Amoasii L,
|
||
Bassel-Duby R,
|
||
Olson EN</span><br />
|
||
<span class="medgenPMjournal">JAMA Neurol</span>
|
||
2016 Nov 1;73(11):1349-1355.
|
||
doi: 10.1001/jamaneurol.2016.3388.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27668807" target="_blank">27668807</a><a href="/pmc/articles/PMC5695221" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19821416">Multidisciplinary care for adults with amyotrophic lateral sclerosis or motor neuron disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng L,
|
||
Khan F,
|
||
Mathers S</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2009 Oct 7;(4):CD007425.
|
||
doi: 10.1002/14651858.CD007425.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19821416" target="_blank">19821416</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Amyotrophic%20lateral%20sclerosis%20type%2011%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 (5)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C2675491%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675491%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675491%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (28)</a></li>
|
||
<li><a href="/gtr/tests?term=C2675491%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675491%5bDISCUI%5d" target="_blank">See all (31)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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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=612577" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Amyotrophic%20lateral%20sclerosis%20type%2011" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
|
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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>
|
||
<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%2011)%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">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=609390" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=9896[geneid]" target="_blank">View FIG4 variations in ClinVar</a></li><li><a href="/nuccore/189458881" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612577" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/amyotrophic_lateral_sclerosis_11" 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%2011" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10496/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">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301623" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Amyotrophic%20lateral%20sclerosis%20type%2011" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Amyotrophic%20lateral%20sclerosis%20type%2011%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=393399" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=393399" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675491[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C2675491[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=393399" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=393399" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=393399" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=393399" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=393399" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=393399" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=393399" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=393399" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
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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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|
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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">
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Turn Off
|
||
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|
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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
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5797d2f30673f7b93956f">Amyotrophic lateral sclerosis type 11</a>
|
||
<div class="ralinkpop offscreen_noflow">Amyotrophic lateral sclerosis type 11<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d5797984f3725e59ce2770">NBK1450 OR NBK5942 <span class="number">(34)</span></a>
|
||
<div class="tertiary">Books</div>
|
||
</li>
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