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<!--
|
||
UID=155610
|
||
ConceptID=C0751668
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Machado-Joseph disease type 1</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155610</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.">C0751668</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>Machado Joseph Disease Type I; Machado-Joseph Disease Type I; Type I Machado Joseph Disease; Type I Machado-Joseph Disease</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0017174" target="_blank">MONDO:0017174</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=276238">ORPHA276238</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
|
||
<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">Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0751668[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=155610">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Machado-Joseph disease type 1</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842696" ref="tree=MeSH" title="MedGen record for Autosomal dominant cerebellar ataxia type I">Autosomal dominant cerebellar ataxia type I</a></span><ul><li><span class="TLline"><a href="/medgen/9841" ref="tree=MeSH" title="MedGen record for Azorean disease">Azorean disease</a></span><ul><li><span class="matched_ds">Machado-Joseph disease type 1</span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=20359&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Machado-Joseph disease type 1</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38443995">Spermidine treatment: induction of autophagy but also apoptosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watchon M,
|
||
Wright AL,
|
||
Ahel HI,
|
||
Robinson KJ,
|
||
Plenderleith SK,
|
||
Kuriakose A,
|
||
Yuan KC,
|
||
Laird AS</span><br />
|
||
<span class="medgenPMjournal">Mol Brain</span>
|
||
2024 Mar 5;17(1):15.
|
||
doi: 10.1186/s13041-024-01085-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38443995" target="_blank">38443995</a><a href="/pmc/articles/PMC10916058" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32814229">Genotype-phenotype correlation in 667 Chinese families with spinocerebellar ataxia type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du YC,
|
||
Dong Y,
|
||
Cheng HL,
|
||
Li QF,
|
||
Yang L,
|
||
Shao YR,
|
||
Ma Y,
|
||
Ni W,
|
||
Gan SR,
|
||
Wu ZY</span><br />
|
||
<span class="medgenPMjournal">Parkinsonism Relat Disord</span>
|
||
2020 Sep;78:116-121.
|
||
Epub 2020 Aug 4
|
||
doi: 10.1016/j.parkreldis.2020.07.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32814229" target="_blank">32814229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9506545">Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rivaud-Pechoux S,
|
||
Dürr A,
|
||
Gaymard B,
|
||
Cancel G,
|
||
Ploner CJ,
|
||
Agid Y,
|
||
Brice A,
|
||
Pierrot-Deseilligny C</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1998 Mar;43(3):297-302.
|
||
doi: 10.1002/ana.410430306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9506545" target="_blank">9506545</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(machado-joseph%20disease%20type%201)%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 (10)</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/36927680">Outcomes with Finerenone in Participants with Stage 4 CKD and Type 2 Diabetes: A FIDELITY Subgroup Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarafidis P,
|
||
Agarwal R,
|
||
Pitt B,
|
||
Wanner C,
|
||
Filippatos G,
|
||
Boletis J,
|
||
Tuttle KR,
|
||
Ruilope LM,
|
||
Rossing P,
|
||
Toto R,
|
||
Anker SD,
|
||
Liu ZH,
|
||
Joseph A,
|
||
Ahlers C,
|
||
Brinker M,
|
||
Lawatscheck R,
|
||
Bakris G;
|
||
FIDELIO-DKD and FIGARO-DKD Investigators</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2023 May 1;18(5):602-612.
|
||
Epub 2023 Apr 7
|
||
doi: 10.2215/CJN.0000000000000149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36927680" target="_blank">36927680</a><a href="/pmc/articles/PMC10278789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33761533">SARS-CoV-2 vaccination modelling for safe surgery to save lives: data from an international prospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">COVIDSurg Collaborative, GlobalSurg Collaborative</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2021 Sep 27;108(9):1056-1063.
|
||
doi: 10.1093/bjs/znab101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33761533" target="_blank">33761533</a><a href="/pmc/articles/PMC7995808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603320">The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
|
||
Melo C,
|
||
Silva MC,
|
||
Coutinho P</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2014;42(3):174-83.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1159/000358801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20069236">Spinocerebellar ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Teive HA</span><br />
|
||
<span class="medgenPMjournal">Arq Neuropsiquiatr</span>
|
||
2009 Dec;67(4):1133-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20069236" target="_blank">20069236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16941469">Spinocerebellar ataxia type 1, 2, and 3 and restless legs syndrome: striatal dopamine D2 receptor status investigated by [11C]raclopride positron emission tomography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reimold M,
|
||
Globas C,
|
||
Gleichmann M,
|
||
Schulze M,
|
||
Gerloff C,
|
||
Bares R,
|
||
Machulla HJ,
|
||
Bürk K</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2006 Oct;21(10):1667-73.
|
||
doi: 10.1002/mds.20978.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16941469" target="_blank">16941469</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Machado-Joseph%20disease%20type%201%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 (126)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36729871">Retinal Manifestations in Spinocerebellar Ataxia Type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chorfi S,
|
||
Place EM,
|
||
Mallery RM,
|
||
Huckfeldt RM</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2024 Mar 1;44(1):e3-e5.
|
||
Epub 2022 Dec 8
|
||
doi: 10.1097/WNO.0000000000001759.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36729871" target="_blank">36729871</a><a href="/pmc/articles/PMC10855985" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34872709">Outer Retinal Disruption in Spinocerebellar Ataxia Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Botsford BW,
|
||
Oliveira C,
|
||
Papakostas TD</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2021 Dec;5(12):1280.
|
||
doi: 10.1016/j.oret.2021.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34872709" target="_blank">34872709</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33761533">SARS-CoV-2 vaccination modelling for safe surgery to save lives: data from an international prospective cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">COVIDSurg Collaborative, GlobalSurg Collaborative</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
2021 Sep 27;108(9):1056-1063.
|
||
doi: 10.1093/bjs/znab101.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33761533" target="_blank">33761533</a><a href="/pmc/articles/PMC7995808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603320">The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
|
||
Melo C,
|
||
Silva MC,
|
||
Coutinho P</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2014;42(3):174-83.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1159/000358801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7952239">Degenerative ataxias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Subramony SH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
1994 Aug;7(4):316-22.
|
||
doi: 10.1097/00019052-199408000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7952239" target="_blank">7952239</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Machado-Joseph%20disease%20type%201%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 (90)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38443995">Spermidine treatment: induction of autophagy but also apoptosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watchon M,
|
||
Wright AL,
|
||
Ahel HI,
|
||
Robinson KJ,
|
||
Plenderleith SK,
|
||
Kuriakose A,
|
||
Yuan KC,
|
||
Laird AS</span><br />
|
||
<span class="medgenPMjournal">Mol Brain</span>
|
||
2024 Mar 5;17(1):15.
|
||
doi: 10.1186/s13041-024-01085-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38443995" target="_blank">38443995</a><a href="/pmc/articles/PMC10916058" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38161195">Efficiency of PGK1 proteins delivered to the brain via a liposomal system through intranasal route administration for the treatment of spinocerebellar ataxia type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YS,
|
||
Hong ZX,
|
||
Lin YT,
|
||
Tsao EC,
|
||
Chen PY,
|
||
Liu CA,
|
||
Harn HJ,
|
||
Chiou TW,
|
||
Lin SZ</span><br />
|
||
<span class="medgenPMjournal">Drug Deliv Transl Res</span>
|
||
2024 Jul;14(7):1940-1953.
|
||
Epub 2023 Dec 31
|
||
doi: 10.1007/s13346-023-01498-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38161195" target="_blank">38161195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36927680">Outcomes with Finerenone in Participants with Stage 4 CKD and Type 2 Diabetes: A FIDELITY Subgroup Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarafidis P,
|
||
Agarwal R,
|
||
Pitt B,
|
||
Wanner C,
|
||
Filippatos G,
|
||
Boletis J,
|
||
Tuttle KR,
|
||
Ruilope LM,
|
||
Rossing P,
|
||
Toto R,
|
||
Anker SD,
|
||
Liu ZH,
|
||
Joseph A,
|
||
Ahlers C,
|
||
Brinker M,
|
||
Lawatscheck R,
|
||
Bakris G;
|
||
FIDELIO-DKD and FIGARO-DKD Investigators</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2023 May 1;18(5):602-612.
|
||
Epub 2023 Apr 7
|
||
doi: 10.2215/CJN.0000000000000149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36927680" target="_blank">36927680</a><a href="/pmc/articles/PMC10278789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34160773">DNAzyme Cleavage of CAG Repeat RNA in Polyglutamine Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang N,
|
||
Bewick B,
|
||
Schultz J,
|
||
Tiwari A,
|
||
Krencik R,
|
||
Zhang A,
|
||
Adachi K,
|
||
Xia G,
|
||
Yun K,
|
||
Sarkar P,
|
||
Ashizawa T</span><br />
|
||
<span class="medgenPMjournal">Neurotherapeutics</span>
|
||
2021 Jul;18(3):1710-1728.
|
||
Epub 2021 Jun 23
|
||
doi: 10.1007/s13311-021-01075-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34160773" target="_blank">34160773</a><a href="/pmc/articles/PMC8609077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33087504">Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prudencio M,
|
||
Garcia-Moreno H,
|
||
Jansen-West KR,
|
||
Al-Shaikh RH,
|
||
Gendron TF,
|
||
Heckman MG,
|
||
Spiegel MR,
|
||
Carlomagno Y,
|
||
Daughrity LM,
|
||
Song Y,
|
||
Dunmore JA,
|
||
Byron N,
|
||
Oskarsson B,
|
||
Nicholson KA,
|
||
Staff NP,
|
||
Gorcenco S,
|
||
Puschmann A,
|
||
Lemos J,
|
||
Januário C,
|
||
LeDoux MS,
|
||
Friedman JH,
|
||
Polke J,
|
||
Labrum R,
|
||
Shakkottai V,
|
||
McLoughlin HS,
|
||
Paulson HL,
|
||
Konno T,
|
||
Onodera O,
|
||
Ikeuchi T,
|
||
Tada M,
|
||
Kakita A,
|
||
Fryer JD,
|
||
Karremo C,
|
||
Gomes I,
|
||
Caviness JN,
|
||
Pittelkow MR,
|
||
Aasly J,
|
||
Pfeiffer RF,
|
||
Veerappan V,
|
||
Eggenberger ER,
|
||
Freeman WD,
|
||
Huang JF,
|
||
Uitti RJ,
|
||
Wierenga KJ,
|
||
Marin Collazo IV,
|
||
Tipton PW,
|
||
van Gerpen JA,
|
||
van Blitterswijk M,
|
||
Bu G,
|
||
Wszolek ZK,
|
||
Giunti P,
|
||
Petrucelli L</span><br />
|
||
<span class="medgenPMjournal">Sci Transl Med</span>
|
||
2020 Oct 21;12(566)
|
||
doi: 10.1126/scitranslmed.abb7086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33087504" target="_blank">33087504</a><a href="/pmc/articles/PMC7927160" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Machado-Joseph%20disease%20type%201%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 (43)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39941093">Predicting Which Mitophagy Proteins Are Dysregulated in Spinocerebellar Ataxia Type 3 (SCA3) Using the Auto-p2docking Pipeline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vieira J,
|
||
Barros M,
|
||
López-Fernández H,
|
||
Glez-Peña D,
|
||
Nogueira-Rodríguez A,
|
||
Vieira CP</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2025 Feb 4;26(3)
|
||
doi: 10.3390/ijms26031325.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39941093" target="_blank">39941093</a><a href="/pmc/articles/PMC11818632" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38279001">Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weber N,
|
||
Buchholz M,
|
||
Rädke A,
|
||
Faber J,
|
||
Schmitz-Hübsch T,
|
||
Jacobi H,
|
||
Klockgether T,
|
||
Hoffmann W,
|
||
Michalowsky B;
|
||
EUROSCA study group;
|
||
ESMI study group</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Aug;23(4):1466-1477.
|
||
Epub 2024 Jan 27
|
||
doi: 10.1007/s12311-024-01657-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38279001" target="_blank">38279001</a><a href="/pmc/articles/PMC11269494" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36129443">Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado-Joseph Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Oliveira CM,
|
||
Leotti VB,
|
||
Cappelli AH,
|
||
Rocha AG,
|
||
Ecco G,
|
||
Bolzan G,
|
||
Kersting N,
|
||
Saraiva-Pereira ML,
|
||
Jardim LB</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2023 Jan;38(1):26-34.
|
||
Epub 2022 Sep 21
|
||
doi: 10.1002/mds.29226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36129443" target="_blank">36129443</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34713931">Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hengel H,
|
||
Martus P,
|
||
Faber J,
|
||
Garcia-Moreno H,
|
||
Solanky N,
|
||
Giunti P,
|
||
Klockgether T,
|
||
Reetz K,
|
||
van de Warrenburg BP,
|
||
Pereira de Almeida L,
|
||
Santana MM,
|
||
Januário C,
|
||
Silva P,
|
||
Thieme A,
|
||
Infante J,
|
||
de Vries J,
|
||
Lima M,
|
||
Ferreira AF,
|
||
Bushara K,
|
||
Jacobi H,
|
||
Onyike C,
|
||
Schmahmann JD,
|
||
Hübener-Schmid J,
|
||
Synofzik M,
|
||
Schöls L</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2022 Feb;37(2):405-410.
|
||
Epub 2021 Oct 29
|
||
doi: 10.1002/mds.28844.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34713931" target="_blank">34713931</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26395908">Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">da Silva Carvalho G,
|
||
Saute JA,
|
||
Haas CB,
|
||
Torrez VR,
|
||
Brochier AW,
|
||
Souza GN,
|
||
Furtado GV,
|
||
Gheno T,
|
||
Russo A,
|
||
Monte TL,
|
||
Schumacher-Schuh A,
|
||
D'Avila R,
|
||
Donis KC,
|
||
Castilhos RM,
|
||
Souza DO,
|
||
Saraiva-Pereira ML,
|
||
Torman VL,
|
||
Camey S,
|
||
Portela LV,
|
||
Jardim LB</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2016 Aug;15(4):518-25.
|
||
doi: 10.1007/s12311-015-0719-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26395908" target="_blank">26395908</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Machado-Joseph%20disease%20type%201%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 (43)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38161195">Efficiency of PGK1 proteins delivered to the brain via a liposomal system through intranasal route administration for the treatment of spinocerebellar ataxia type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen YS,
|
||
Hong ZX,
|
||
Lin YT,
|
||
Tsao EC,
|
||
Chen PY,
|
||
Liu CA,
|
||
Harn HJ,
|
||
Chiou TW,
|
||
Lin SZ</span><br />
|
||
<span class="medgenPMjournal">Drug Deliv Transl Res</span>
|
||
2024 Jul;14(7):1940-1953.
|
||
Epub 2023 Dec 31
|
||
doi: 10.1007/s13346-023-01498-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38161195" target="_blank">38161195</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36927680">Outcomes with Finerenone in Participants with Stage 4 CKD and Type 2 Diabetes: A FIDELITY Subgroup Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarafidis P,
|
||
Agarwal R,
|
||
Pitt B,
|
||
Wanner C,
|
||
Filippatos G,
|
||
Boletis J,
|
||
Tuttle KR,
|
||
Ruilope LM,
|
||
Rossing P,
|
||
Toto R,
|
||
Anker SD,
|
||
Liu ZH,
|
||
Joseph A,
|
||
Ahlers C,
|
||
Brinker M,
|
||
Lawatscheck R,
|
||
Bakris G;
|
||
FIDELIO-DKD and FIGARO-DKD Investigators</span><br />
|
||
<span class="medgenPMjournal">Clin J Am Soc Nephrol</span>
|
||
2023 May 1;18(5):602-612.
|
||
Epub 2023 Apr 7
|
||
doi: 10.2215/CJN.0000000000000149.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36927680" target="_blank">36927680</a><a href="/pmc/articles/PMC10278789" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35305685">Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda CO,
|
||
Nobre RJ,
|
||
Paiva VH,
|
||
Duarte JV,
|
||
Castelhano J,
|
||
Petrella LI,
|
||
Sereno J,
|
||
Santana M,
|
||
Afonso S,
|
||
Januário C,
|
||
Castelo-Branco M,
|
||
de Almeida LP</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol Commun</span>
|
||
2022 Mar 19;10(1):37.
|
||
doi: 10.1186/s40478-022-01329-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35305685" target="_blank">35305685</a><a href="/pmc/articles/PMC8933766" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32676850">Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Du YC,
|
||
Ma Y,
|
||
Shao YR,
|
||
Gan SR,
|
||
Dong Y,
|
||
Wu ZY</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2020 Dec;19(6):902-906.
|
||
doi: 10.1007/s12311-020-01167-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32676850" target="_blank">32676850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21635785">Machado-Joseph Disease: from first descriptions to new perspectives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bettencourt C,
|
||
Lima M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2011 Jun 2;6:35.
|
||
doi: 10.1186/1750-1172-6-35.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21635785" target="_blank">21635785</a><a href="/pmc/articles/PMC3123549" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Machado-Joseph%20disease%20type%201%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 (130)</a></div></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/37975968">Efficacy and Safety of Repetitive Transcranial Magnetic Stimulation in Spinocerebellar Ataxia Type 3: a Systematic Review and Meta‑analysis of Randomized Controlled Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qiu M,
|
||
Wang R,
|
||
Shen Y,
|
||
Hu Z,
|
||
Zhang Y</span><br />
|
||
<span class="medgenPMjournal">Cerebellum</span>
|
||
2024 Aug;23(4):1604-1613.
|
||
Epub 2023 Nov 17
|
||
doi: 10.1007/s12311-023-01628-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37975968" target="_blank">37975968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34489113">The ASAS-OMERACT core domain set for axial spondyloarthritis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Navarro-Compán V,
|
||
Boel A,
|
||
Boonen A,
|
||
Mease P,
|
||
Landewé R,
|
||
Kiltz U,
|
||
Dougados M,
|
||
Baraliakos X,
|
||
Bautista-Molano W,
|
||
Carlier H,
|
||
Chiowchanwisawakit P,
|
||
Dagfinrud H,
|
||
de Peyrecave N,
|
||
El-Zorkany B,
|
||
Fallon L,
|
||
Gaffney K,
|
||
Garrido-Cumbrera M,
|
||
Gensler LS,
|
||
Haroon N,
|
||
Kwan YH,
|
||
Machado PM,
|
||
Maksymowych WP,
|
||
Poddubnyy D,
|
||
Protopopov M,
|
||
Ramiro S,
|
||
Shea B,
|
||
Song IH,
|
||
van Weely S,
|
||
van der Heijde D</span><br />
|
||
<span class="medgenPMjournal">Semin Arthritis Rheum</span>
|
||
2021 Dec;51(6):1342-1349.
|
||
Epub 2021 Aug 1
|
||
doi: 10.1016/j.semarthrit.2021.07.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34489113" target="_blank">34489113</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33219521">Selective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sena LS,
|
||
Dos Santos Pinheiro J,
|
||
Saraiva-Pereira ML,
|
||
Jardim LB</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2021 Mar;99(3):347-358.
|
||
Epub 2020 Dec 2
|
||
doi: 10.1111/cge.13888.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33219521" target="_blank">33219521</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24603320">The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ruano L,
|
||
Melo C,
|
||
Silva MC,
|
||
Coutinho P</span><br />
|
||
<span class="medgenPMjournal">Neuroepidemiology</span>
|
||
2014;42(3):174-83.
|
||
Epub 2014 Mar 5
|
||
doi: 10.1159/000358801.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24603320" target="_blank">24603320</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Machado-Joseph%20disease%20type%201%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></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_content ln"><ul><li><a href="/gtr/tests?term=C0751668%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0751668%5bDISCUI%5d" target="_blank">See all (1)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=276238" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Machado-Joseph%20disease%20type%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(machado-joseph%20disease%20type%201)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Machado-Joseph%20disease%20type%201" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/21048/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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||
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Machado-Joseph%20disease%20type%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Machado-Joseph%20disease%20type%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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</li>
|
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</ul>
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</div>
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|
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<!-- MedGen supplemental column ends here -->
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<div class="portlet_head">
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<div class="portlet_title">
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<h3>Related information</h3>
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</div>
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