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<meta name="keywords" content="C3809824, disease or syndrome, early-onset parkinson disease 20, early-onset parkinson disease type 20, early-onset parkinson's disease 20, park20, parkinson disease 20, early-onset, parkinson disease caused by mutation in synj1, synj1, synj1 parkinson disease, 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="Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=816154
|
||
ConceptID=C3809824
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Early-onset Parkinson disease 20<span class="h1sub">(PARK20)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816154</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."><span class="highlight" style="background-color:">C3809824</span></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>PARK20; PARKINSON DISEASE 20, EARLY-ONSET</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="SYNJ1 - ID: 8867 - NCBI Gene" href="/gene/8867" class="medgenPMinfo">SYNJ1</a> (21q22.11)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014233" target="_blank">MONDO:0014233</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615530" target="_blank">615530</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>
|
||
<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">Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_41971"><div><strong>Fatigue</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41971</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.">C0015672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A subjective feeling of tiredness characterized by a lack of energy and motivation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41971">Feature record</a> | <a href="/medgen?term=%22Fatigue%22%5BClinical%20Features%5D%20OR%2041971%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41440"><div><strong>Dysphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41440</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.">C0011168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty in swallowing.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41440">Feature record</a> | <a href="/medgen?term=%22Dysphagia%22%5BClinical%20Features%5D%20OR%2041440%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3940"><div><strong>Dystonic disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3940</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.">C0013421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3940">Feature record</a> | <a href="/medgen?term=%22Dystonic%20disorder%22%5BClinical%20Features%5D%20OR%203940%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21635"><div><strong>Tremor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21635</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.">C0040822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unintentional, oscillating to-and-fro muscle movement about a joint axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21635">Feature record</a> | <a href="/medgen?term=%22Tremor%22%5BClinical%20Features%5D%20OR%2021635%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68545"><div><strong>Shuffling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68545</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.">C0231688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68545">Feature record</a> | <a href="/medgen?term=%22Shuffling%20gait%22%5BClinical%20Features%5D%20OR%2068545%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115925"><div><strong>Bradykinesia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115925</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.">C0233565</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115925">Feature record</a> | <a href="/medgen?term=%22Bradykinesia%22%5BClinical%20Features%5D%20OR%20115925%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66713"><div><strong>Mental deterioration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66713</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.">C0234985</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of previously present mental abilities, generally in adults.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66713">Feature record</a> | <a href="/medgen?term=%22Mental%20deterioration%22%5BClinical%20Features%5D%20OR%2066713%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66079"><div><strong>Parkinsonian disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66079</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.">C0242422</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66079">Feature record</a> | <a href="/medgen?term=%22Parkinsonian%20disorder%22%5BClinical%20Features%5D%20OR%2066079%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140884"><div><strong>Involuntary movements</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140884</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.">C0427086</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140884">Feature record</a> | <a href="/medgen?term=%22Involuntary%20movements%22%5BClinical%20Features%5D%20OR%20140884%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107895"><div><strong>Gait disturbance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107895</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.">C0575081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term gait disturbance can refer to any disruption of the ability to walk.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107895">Feature record</a> | <a href="/medgen?term=%22Gait%20disturbance%22%5BClinical%20Features%5D%20OR%20107895%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_334529"><div><strong>Postural instability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334529</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.">C1843921</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334529">Feature record</a> | <a href="/medgen?term=%22Postural%20instability%22%5BClinical%20Features%5D%20OR%20334529%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_812045"><div><strong>Short stepped shuffling gait</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812045</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.">C3805715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/812045">Feature record</a> | <a href="/medgen?term=%22Short%20stepped%20shuffling%20gait%22%5BClinical%20Features%5D%20OR%20812045%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1393424"><div><strong>Stooped posture</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1393424</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.">C4476759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A habitual positioning of the body with the head and upper back bent forward.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1393424">Feature record</a> | <a href="/medgen?term=%22Stooped%20posture%22%5BClinical%20Features%5D%20OR%201393424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646740"><div><strong>Cerebral cortical atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646740</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.">C4551583</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the cortex of the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646740">Feature record</a> | <a href="/medgen?term=%22Cerebral%20cortical%20atrophy%22%5BClinical%20Features%5D%20OR%201646740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7752"><div><strong>Rigidity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7752</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.">C0026837</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7752">Feature record</a> | <a href="/medgen?term=%22Rigidity%22%5BClinical%20Features%5D%20OR%207752%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870176"><div><strong>Leg muscle stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870176</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.">C4024610</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870176">Feature record</a> | <a href="/medgen?term=%22Leg%20muscle%20stiffness%22%5BClinical%20Features%5D%20OR%20870176%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66033"><div><strong>Weak voice</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66033</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.">C0241700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced intensity (volume) of speech.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66033">Feature record</a> | <a href="/medgen?term=%22Weak%20voice%22%5BClinical%20Features%5D%20OR%2066033%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_222979"><div><strong>Eyelid apraxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>222979</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.">C1142448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/222979">Feature record</a> | <a href="/medgen?term=%22Eyelid%20apraxia%22%5BClinical%20Features%5D%20OR%20222979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_314030"><div><strong>Supranuclear gaze palsy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>314030</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.">C1720037</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/314030">Feature record</a> | <a href="/medgen?term=%22Supranuclear%20gaze%20palsy%22%5BClinical%20Features%5D%20OR%20314030%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_816157"><div><strong>Staring gaze</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816157</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.">C3809827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality in which the eyes are held permanently wide open.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816157">Feature record</a> | <a href="/medgen?term=%22Staring%20gaze%22%5BClinical%20Features%5D%20OR%20816157%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_222979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eyelid apraxia</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41440" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysphagia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_816157" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Staring gaze</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_314030" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Supranuclear gaze palsy</a></span></li></ul></li><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_870176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leg muscle stiffness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rigidity</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_115925" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bradykinesia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral cortical atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_3940" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dystonic disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107895" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gait disturbance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140884" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Involuntary movements</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mental deterioration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66079" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Parkinsonian disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_334529" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postural instability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stepped shuffling gait</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68545" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Shuffling gait</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1393424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stooped posture</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tremor</a></span></li></ul></li><li><span class="TLline">Abnormality of the voice</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weak voice</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41971" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fatigue</a></span></li></ul></li></ul></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/34622992">Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Magrinelli F,
|
||
Mehta S,
|
||
Di Lazzaro G,
|
||
Latorre A,
|
||
Edwards MJ,
|
||
Balint B,
|
||
Basu P,
|
||
Kobylecki C,
|
||
Groppa S,
|
||
Hegde A,
|
||
Mulroy E,
|
||
Estevez-Fraga C,
|
||
Arora A,
|
||
Kumar H,
|
||
Schneider SA,
|
||
Lewis PA,
|
||
Jaunmuktane Z,
|
||
Revesz T,
|
||
Gandhi S,
|
||
Wood NW,
|
||
Hardy JA,
|
||
Tinazzi M,
|
||
Lal V,
|
||
Houlden H,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Jan;37(1):148-161.
|
||
Epub 2021 Oct 8
|
||
doi: 10.1002/mds.28807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34622992" target="_blank">34622992</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32658388">GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petrucci S,
|
||
Ginevrino M,
|
||
Trezzi I,
|
||
Monfrini E,
|
||
Ricciardi L,
|
||
Albanese A,
|
||
Avenali M,
|
||
Barone P,
|
||
Bentivoglio AR,
|
||
Bonifati V,
|
||
Bove F,
|
||
Bonanni L,
|
||
Brusa L,
|
||
Cereda C,
|
||
Cossu G,
|
||
Criscuolo C,
|
||
Dati G,
|
||
De Rosa A,
|
||
Eleopra R,
|
||
Fabbrini G,
|
||
Fadda L,
|
||
Garbellini M,
|
||
Minafra B,
|
||
Onofrj M,
|
||
Pacchetti C,
|
||
Palmieri I,
|
||
Pellecchia MT,
|
||
Petracca M,
|
||
Picillo M,
|
||
Pisani A,
|
||
Vallelunga A,
|
||
Zangaglia R,
|
||
Di Fonzo A,
|
||
Morgante F,
|
||
Valente EM;
|
||
ITA-GENE-PD Study Group</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2020 Nov;35(11):2106-2111.
|
||
Epub 2020 Jul 13
|
||
doi: 10.1002/mds.28195.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32658388" target="_blank">32658388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11482743">Orthostatic hypotension in patients with Parkinson's disease: pathophysiology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senard JM,
|
||
Brefel-Courbon C,
|
||
Rascol O,
|
||
Montastruc JL</span><br />
|
||
<span class="medgenPMjournal">Drugs Aging</span>
|
||
2001;18(7):495-505.
|
||
doi: 10.2165/00002512-200118070-00003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11482743" target="_blank">11482743</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(early-onset%20parkinson%20disease%2020)%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></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/35861376">The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YP,
|
||
Yu SH,
|
||
Zhang GH,
|
||
Hou YB,
|
||
Gu XJ,
|
||
Ou RW,
|
||
Shen Y,
|
||
Song W,
|
||
Chen XP,
|
||
Zhao B,
|
||
Cao B,
|
||
Zhang LY,
|
||
Sun MM,
|
||
Liu FF,
|
||
Wei QQ,
|
||
Liu KC,
|
||
Lin JY,
|
||
Yang TM,
|
||
Yang J,
|
||
Wu Y,
|
||
Jiang Z,
|
||
Liu J,
|
||
Cheng YF,
|
||
Xiao Y,
|
||
Su WM,
|
||
Feng F,
|
||
Cai YY,
|
||
Li SR,
|
||
Hu T,
|
||
Yuan XQ,
|
||
Zhou QQ,
|
||
Shao N,
|
||
Ma S,
|
||
Shang HF</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurol</span>
|
||
2022 Nov;29(11):3218-3228.
|
||
Epub 2022 Aug 4
|
||
doi: 10.1111/ene.15509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35861376" target="_blank">35861376</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34130600">The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deneubourg C,
|
||
Ramm M,
|
||
Smith LJ,
|
||
Baron O,
|
||
Singh K,
|
||
Byrne SC,
|
||
Duchen MR,
|
||
Gautel M,
|
||
Eskelinen EL,
|
||
Fanto M,
|
||
Jungbluth H</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2022 Mar;18(3):496-517.
|
||
Epub 2021 Aug 19
|
||
doi: 10.1080/15548627.2021.1943177.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34130600" target="_blank">34130600</a><a href="/pmc/articles/PMC9037555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31521533">The genetic architecture of Parkinson's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blauwendraat C,
|
||
Nalls MA,
|
||
Singleton AB</span><br />
|
||
<span class="medgenPMjournal">Lancet Neurol</span>
|
||
2020 Feb;19(2):170-178.
|
||
Epub 2019 Sep 11
|
||
doi: 10.1016/S1474-4422(19)30287-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31521533" target="_blank">31521533</a><a href="/pmc/articles/PMC8972299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30820047">Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kunkle BW,
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Grenier-Boley B,
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Sims R,
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Bis JC,
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Damotte V,
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Naj AC,
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Boland A,
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Vronskaya M,
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van der Lee SJ,
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Amlie-Wolf A,
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Bellenguez C,
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Frizatti A,
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Chouraki V,
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Martin ER,
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Sleegers K,
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Badarinarayan N,
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Jakobsdottir J,
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Hamilton-Nelson KL,
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Moreno-Grau S,
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Olaso R,
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Raybould R,
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Chen Y,
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Kuzma AB,
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Hiltunen M,
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Morgan T,
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Ahmad S,
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Vardarajan BN,
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Epelbaum J,
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Hoffmann P,
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Boada M,
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Beecham GW,
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Garnier JG,
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Harold D,
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Fitzpatrick AL,
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Valladares O,
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Moutet ML,
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Gerrish A,
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Smith AV,
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Qu L,
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Bacq D,
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Denning N,
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Jian X,
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Zhao Y,
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Del Zompo M,
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Fox NC,
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Choi SH,
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Mateo I,
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Hughes JT,
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Adams HH,
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Malamon J,
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Sanchez-Garcia F,
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Patel Y,
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Brody JA,
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Dombroski BA,
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Naranjo MCD,
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Daniilidou M,
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Eiriksdottir G,
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Mukherjee S,
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Wallon D,
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Aspelund T,
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Cantwell LB,
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Garzia F,
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Hofer E,
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Fin B,
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Meslage S,
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Kornhuber J,
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White CC,
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Song Y,
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Barber RC,
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Engelborghs S,
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Sordon S,
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Voijnovic D,
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Adams PM,
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Vandenberghe R,
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Mayhaus M,
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Cupples LA,
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Albert MS,
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De Deyn PP,
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Gu W,
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Himali JJ,
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Beekly D,
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Squassina A,
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Hartmann AM,
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Orellana A,
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Blacker D,
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Lovestone S,
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Garcia ME,
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Sussams R,
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Lin H,
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Fairchild TJ,
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Benito YA,
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Karamujić-Čomić H,
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Frosch MP,
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Thonberg H,
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Maier W,
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Roshchupkin G,
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Kawalia A,
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Li S,
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Huebinger RM,
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Moebus S,
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Hernández I,
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Kamboh MI,
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Brundin R,
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Yang Q,
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Katz MJ,
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Keene CD,
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Longstreth WT Jr,
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Royall DR,
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de Rojas I,
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George-Hyslop PS,
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Tsolaki M,
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Tsuang DW,
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Dubois B,
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Craig D,
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Wu CK,
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Gkatzima O,
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Atwood CS,
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Carracedo Á,
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Bird TD,
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Boeve BF,
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Lupton MK,
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Proitsi P,
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Boxer A,
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Powell JF,
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Burke JR,
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Kauwe JSK,
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Mancuso M,
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Buxbaum JD,
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Cairns NJ,
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McQuillin A,
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Cao C,
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Livingston G,
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Carlson CS,
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Bass NJ,
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Carlsson CM,
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Hardy J,
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Carney RM,
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Bras J,
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Carrasquillo MM,
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Guerreiro R,
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Allen M,
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Chui HC,
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Levey AI,
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Wichmann HE,
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Lyketsos CG,
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Morgan K,
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Marson DC,
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Brown K,
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Nöthen MM,
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Masliah E,
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McCormick WC,
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Daniele A,
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Morris JC,
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Olichney JM,
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Parisi JE,
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Paulson HL,
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Collinge J,
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Mead S,
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Peskind E,
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Rossor M,
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Pierce A,
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Ryan NS,
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Poon WW,
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Nacmias B,
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Reitz C,
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Ringman JM,
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Roberson ED,
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Wilcock G,
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Rogaeva E,
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Bruni AC,
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Rosen HJ,
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Rosenberg RN,
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Ben-Shlomo Y,
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Sager MA,
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<span class="bold">PMID: </span><a href="/pubmed/38311061" target="_blank">38311061</a><a href="/pmc/articles/PMC11391672" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37855447">Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.</a></div>
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Hartley SL,
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Hassenstab J,
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<div class="nl"><a target="_blank" href="/pubmed/36404549">Motor Symptoms in Early- versus Late-Onset Alzheimer's Disease.</a></div>
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Jang H,
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<div class="nl"><a target="_blank" href="/pubmed/33392638">Suicidal ideation in early-onset Parkinson's disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ou R,
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Wei Q,
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Hou Y,
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Zhang L,
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Liu K,
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Kong X,
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Li S,
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Wang L,
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Xu X,
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Gu X,
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Lin J,
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Jiang Z,
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Liu J,
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Song W,
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Cao B,
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Shang H</span><br />
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<span class="medgenPMjournal">J Neurol</span>
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2021 May;268(5):1876-1884.
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Epub 2021 Jan 4
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doi: 10.1007/s00415-020-10333-4.
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<span class="bold">PMID: </span><a href="/pubmed/33392638" target="_blank">33392638</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2005920">Early-onset Parkinson's disease.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Giovannini P,
|
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Piccolo I,
|
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Genitrini S,
|
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Soliveri P,
|
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Girotti F,
|
||
Geminiani G,
|
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Scigliano G,
|
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Caraceni T</span><br />
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<span class="medgenPMjournal">Mov Disord</span>
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1991;6(1):36-42.
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doi: 10.1002/mds.870060107.
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<span class="bold">PMID: </span><a href="/pubmed/2005920" target="_blank">2005920</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Early-onset%20Parkinson%20disease%2020%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 (58)</a></div></div>
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</div>
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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">
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<div class="nl"><a target="_blank" href="/pubmed/38311061">Physical Violence and Aggression in Parkinson's Disease: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jones MB,
|
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Gibson L,
|
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Gimenez-Zapiola M,
|
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Guerra A,
|
||
Bhatti G,
|
||
Broadway D,
|
||
Tea J,
|
||
Prasad A,
|
||
Gates R,
|
||
Hinton E,
|
||
Jorge RE,
|
||
Marsh L</span><br />
|
||
<span class="medgenPMjournal">J Acad Consult Liaison Psychiatry</span>
|
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2024 Jul-Aug;65(4):366-378.
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Epub 2024 Feb 2
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doi: 10.1016/j.jaclp.2024.01.007.
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<span class="bold">PMID: </span><a href="/pubmed/38311061" target="_blank">38311061</a><a href="/pmc/articles/PMC11391672" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34622992">Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Magrinelli F,
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Mehta S,
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|
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Basu P,
|
||
Kobylecki C,
|
||
Groppa S,
|
||
Hegde A,
|
||
Mulroy E,
|
||
Estevez-Fraga C,
|
||
Arora A,
|
||
Kumar H,
|
||
Schneider SA,
|
||
Lewis PA,
|
||
Jaunmuktane Z,
|
||
Revesz T,
|
||
Gandhi S,
|
||
Wood NW,
|
||
Hardy JA,
|
||
Tinazzi M,
|
||
Lal V,
|
||
Houlden H,
|
||
Bhatia KP</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Jan;37(1):148-161.
|
||
Epub 2021 Oct 8
|
||
doi: 10.1002/mds.28807.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34622992" target="_blank">34622992</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Early-onset%20Parkinson%20disease%2020%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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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3809824%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809824%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809824%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809824%5bDISCUI%5d" target="_blank">See all (13)</a></total></li>
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