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<meta name="keywords" content="C1857287, finding, stroke-like episode, stroke-like episodes, strokelike episodes, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=346558
|
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ConceptID=C1857287
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Stroke-like episode</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346558</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.">C1857287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Stroke-like episodes</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0002401">HP:0002401</a></td></tr>
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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>
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||
<div class="portlet_content ln">No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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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>
|
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<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="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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Stroke-like episode</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867613" ref="tree=MeSH" title="MedGen record for Abnormal cerebral vascular morphology">Abnormal cerebral vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/52522" ref="tree=MeSH" title="MedGen record for Stroke disorder">Stroke disorder</a></span><ul><li><span class="matched_ds">Stroke-like episode</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_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_56485"><div><strong>MELAS syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56485</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.">C0162671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with protean manifestations. The vast majority of affected individuals develop signs and symptoms of MELAS between ages two and 40 years. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures and/or dementia, muscle weakness and exercise intolerance, normal early psychomotor development, recurrent headaches, recurrent vomiting, hearing impairment, peripheral neuropathy, learning disability, and short stature. During the stroke-like episodes neuroimaging shows increased T2-weighted signal areas that do not correspond to the classic vascular distribution (hence the term "stroke-like"). Lactic acidemia is very common and muscle biopsies typically show ragged red fibers.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56485">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_138111"><div><strong>PMM2-congenital disorder of glycosylation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138111</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.">C0349653</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding issues, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_350028"><div><strong>Stormorken syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350028</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.">C1861451</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/350028">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_414031"><div><strong>Amyloidosis, hereditary systemic 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414031</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.">C2751492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy. Amyloidosis can involve the heart, central nervous system (CNS), eyes, and kidneys. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesia and hypesthesia of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive restrictive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage. Ocular involvement includes vitreous opacity, glaucoma, dry eye, and ocular amyloid angiopathy. Mild-to-severe kidney disease can develop.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/414031">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_463207"><div><strong>Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>463207</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.">C3151857</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This multisystem disorder is characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts. Moyamoya disease is a progressive cerebrovascular disorder characterized by stenosis or occlusion of the internal carotid arteries and the main branches, leading to the development of small collateral vessels (moyamoya vessels) at the base of the brain. Affected individuals can develop acute neurologic events due to stroke-like episodes (summary by Miskinyte et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/463207">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641635"><div><strong>Wolfram syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641635</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.">C4551693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641635">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1783339"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1783339</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.">C5543281</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1783339">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1804209"><div><strong>Mitochondrial DNA depletion syndrome 20 (mngie type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1804209</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.">C5676934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial DNA depletion syndrome-20 (MTDPS20) is an autosomal recessive multisystem disorder with variable manifestations and severity. Most patients develop symptoms in childhood, although the onset can range from infancy to the teenage years. Prominent features include severe gastrointestinal dysmotility often requiring parenteral nutrition, neurogenic bladder, and muscle weakness and atrophy. Neurologic involvement manifests as headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. The disorder results from a defect in the maintenance and repair of mitochondrial DNA, resulting in mtDNA depletion and impaired mitochondrial function (summary by Bonora et al., 2021). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1804209">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amyloidosis, hereditary systemic 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_56485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MELAS syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1783339" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 37</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1804209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 20 (mngie type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_463207" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_138111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PMM2-congenital disorder of glycosylation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stormorken syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome 1</a></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/35882776">Consider a cerebellar stroke-like lesion only after adequately ruling out all differential diagnoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Fiorini AC</span><br />
|
||
<span class="medgenPMjournal">Acta Neurol Belg</span>
|
||
2023 Aug;123(4):1571-1572.
|
||
Epub 2022 Jul 26
|
||
doi: 10.1007/s13760-022-02047-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35882776" target="_blank">35882776</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28686997">Management of epilepsy in MERRF syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Zarrouk-Mahjoub S</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2017 Aug;50:166-170.
|
||
Epub 2017 Jun 24
|
||
doi: 10.1016/j.seizure.2017.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28686997" target="_blank">28686997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Adesina AM,
|
||
Jones J,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Sep-Oct;116(1-2):4-12.
|
||
Epub 2015 Jun 15
|
||
doi: 10.1016/j.ymgme.2015.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22stroke-like%20episode%22%5Btiab%3A~0%5D)%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 (6)</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.nice.org.uk/guidance/ng128" target="_blank">UK NICE Guideline NG128, Stroke and transient ischaemic attack in over 16s: diagnosis and initial management, 2019</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/36861405">Neurologic outcome following liver transplantation for methylmalonic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Martinelli D,
|
||
Catesini G,
|
||
Greco B,
|
||
Guarnera A,
|
||
Parrillo C,
|
||
Maines E,
|
||
Longo D,
|
||
Napolitano A,
|
||
De Nictolis F,
|
||
Cairoli S,
|
||
Liccardo D,
|
||
Caviglia S,
|
||
Sidorina A,
|
||
Olivieri G,
|
||
Siri B,
|
||
Bianchi R,
|
||
Spagnoletti G,
|
||
Dello Strologo L,
|
||
Spada M,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 May;46(3):450-465.
|
||
Epub 2023 Mar 15
|
||
doi: 10.1002/jimd.12599.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36861405" target="_blank">36861405</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36813321">Stroke-like episodes in adult mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng YS,
|
||
Gorman GS</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;194:65-78.
|
||
doi: 10.1016/B978-0-12-821751-1.00005-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36813321" target="_blank">36813321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34927673">Forecasting stroke-like episodes and outcomes in mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng YS,
|
||
Lax NZ,
|
||
Blain AP,
|
||
Erskine D,
|
||
Baker MR,
|
||
Polvikoski T,
|
||
Thomas RH,
|
||
Morris CM,
|
||
Lai M,
|
||
Whittaker RG,
|
||
Gebbels A,
|
||
Winder A,
|
||
Hall J,
|
||
Feeney C,
|
||
Farrugia ME,
|
||
Hirst C,
|
||
Roberts M,
|
||
Lawthom C,
|
||
Chrysostomou A,
|
||
Murphy K,
|
||
Baird T,
|
||
Maddison P,
|
||
Duncan C,
|
||
Poulton J,
|
||
Nesbitt V,
|
||
Hanna MG,
|
||
Pitceathly RDS,
|
||
Taylor RW,
|
||
Blakely EL,
|
||
Schaefer AM,
|
||
Turnbull DM,
|
||
McFarland R,
|
||
Gorman GS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Apr 18;145(2):542-554.
|
||
doi: 10.1093/brain/awab353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34927673" target="_blank">34927673</a><a href="/pmc/articles/PMC9014738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25373821">Cerebral Microbleed Causing an Acute Stroke-like Episode in a CADASIL Patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vitali P,
|
||
Boghen D,
|
||
Daneault N,
|
||
Guillon-Létourneau L,
|
||
Poppe AY</span><br />
|
||
<span class="medgenPMjournal">Can J Neurol Sci</span>
|
||
2014 Sep;41(5):661-3.
|
||
doi: 10.1017/cjn.2014.29.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25373821" target="_blank">25373821</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19893306">Stroke in myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Stollberger C</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
||
2010;29(1):6-13.
|
||
Epub 2009 Nov 5
|
||
doi: 10.1159/000255968.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19893306" target="_blank">19893306</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stroke-like%20episode%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 (30)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39766231">Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Na JH,
|
||
Lee YM</span><br />
|
||
<span class="medgenPMjournal">Biomolecules</span>
|
||
2024 Nov 28;14(12)
|
||
doi: 10.3390/biom14121524.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39766231" target="_blank">39766231</a><a href="/pmc/articles/PMC11672891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34728512">MELAS syndrome: an acute stroke-like episode complicated by renal tubular acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ni Cathain D,
|
||
Browne E,
|
||
Skehan K,
|
||
Boyle K</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 Nov 2;14(11)
|
||
doi: 10.1136/bcr-2021-245898.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34728512" target="_blank">34728512</a><a href="/pmc/articles/PMC8565551" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34376513">Pearls and Oy-sters: Symmetric Numbness and Paresthesia Due to Stroke-like Episode in an Adolescent Male With MELAS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vassar R,
|
||
Mehta N</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Nov 23;97(21):1006-1008.
|
||
Epub 2021 Aug 10
|
||
doi: 10.1212/WNL.0000000000012611.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34376513" target="_blank">34376513</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32088469">Metabolic stroke or stroke-like lesion: Peculiarities of a phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Aliyev R</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2020 May 15;412:116726.
|
||
Epub 2020 Feb 7
|
||
doi: 10.1016/j.jns.2020.116726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32088469" target="_blank">32088469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19893306">Stroke in myopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Stollberger C</span><br />
|
||
<span class="medgenPMjournal">Cerebrovasc Dis</span>
|
||
2010;29(1):6-13.
|
||
Epub 2009 Nov 5
|
||
doi: 10.1159/000255968.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19893306" target="_blank">19893306</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stroke-like%20episode%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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stroke-like%20episode%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 (22)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34927673">Forecasting stroke-like episodes and outcomes in mitochondrial disease.</a></div>
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Lax NZ,
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Blain AP,
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Erskine D,
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Baker MR,
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Polvikoski T,
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Thomas RH,
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Morris CM,
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Lai M,
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Whittaker RG,
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Gebbels A,
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Winder A,
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Hall J,
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Feeney C,
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Hirst C,
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Roberts M,
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Chrysostomou A,
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Murphy K,
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Baird T,
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Maddison P,
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Duncan C,
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Hanna MG,
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Blakely EL,
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<div class="nl"><a target="_blank" href="/pubmed/32088469">Metabolic stroke or stroke-like lesion: Peculiarities of a phenomenon.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
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Aliyev R</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/32088469" target="_blank">32088469</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19893306">Stroke in myopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stroke-like%20episode%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 (29)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39666093">Clinical features and treatment of stroke-like episodes in mitochondrial disease: a cohort-based study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mickelsson N,
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Hirvonen J,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36813321">Stroke-like episodes in adult mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng YS,
|
||
Gorman GS</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;194:65-78.
|
||
doi: 10.1016/B978-0-12-821751-1.00005-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36813321" target="_blank">36813321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35940028">Reversible cerebral artery constriction accompanied with stroke-like episode in MELAS: A case series.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhao Y,
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Yu X,
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Ji K,
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Lin Y,
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Xu X,
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Wang W,
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Yan C</span><br />
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doi: 10.1016/j.jns.2022.120345.
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<span class="bold">PMID: </span><a href="/pubmed/35940028" target="_blank">35940028</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34927673">Forecasting stroke-like episodes and outcomes in mitochondrial disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng YS,
|
||
Lax NZ,
|
||
Blain AP,
|
||
Erskine D,
|
||
Baker MR,
|
||
Polvikoski T,
|
||
Thomas RH,
|
||
Morris CM,
|
||
Lai M,
|
||
Whittaker RG,
|
||
Gebbels A,
|
||
Winder A,
|
||
Hall J,
|
||
Feeney C,
|
||
Farrugia ME,
|
||
Hirst C,
|
||
Roberts M,
|
||
Lawthom C,
|
||
Chrysostomou A,
|
||
Murphy K,
|
||
Baird T,
|
||
Maddison P,
|
||
Duncan C,
|
||
Poulton J,
|
||
Nesbitt V,
|
||
Hanna MG,
|
||
Pitceathly RDS,
|
||
Taylor RW,
|
||
Blakely EL,
|
||
Schaefer AM,
|
||
Turnbull DM,
|
||
McFarland R,
|
||
Gorman GS</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2022 Apr 18;145(2):542-554.
|
||
doi: 10.1093/brain/awab353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34927673" target="_blank">34927673</a><a href="/pmc/articles/PMC9014738" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Adesina AM,
|
||
Jones J,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Sep-Oct;116(1-2):4-12.
|
||
Epub 2015 Jun 15
|
||
doi: 10.1016/j.ymgme.2015.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stroke-like%20episode%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 (31)</a></div></div>
|
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|
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|
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<div class="portlet mgSection" id="ID_104">
|
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<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>
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<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33596430">Major cerebral vessels involvement in patients with MELAS syndrome: Worth a scan? A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gramegna LL,
|
||
Cortesi I,
|
||
Mitolo M,
|
||
Evangelisti S,
|
||
Talozzi L,
|
||
Cirillo L,
|
||
Tonon C,
|
||
Lodi R</span><br />
|
||
<span class="medgenPMjournal">J Neuroradiol</span>
|
||
2021 Sep;48(5):359-366.
|
||
Epub 2021 Feb 15
|
||
doi: 10.1016/j.neurad.2021.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33596430" target="_blank">33596430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32088469">Metabolic stroke or stroke-like lesion: Peculiarities of a phenomenon.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J,
|
||
Aliyev R</span><br />
|
||
<span class="medgenPMjournal">J Neurol Sci</span>
|
||
2020 May 15;412:116726.
|
||
Epub 2020 Feb 7
|
||
doi: 10.1016/j.jns.2020.116726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32088469" target="_blank">32088469</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Stroke-like%20episode%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 (2)</a></div></div>
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<h3>Reviews</h3>
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<div class="ralinkpop offscreen_noflow">MT-TW mitochondrially encoded tRNA tryptophan [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:4578</div></div>
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<div class="ralinkpop offscreen_noflow">MT-TV mitochondrially encoded tRNA valine [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:4577</div></div>
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