MovDisordV3, Pmc, Curation, bibRecord, 000180

Clinical Features, with Video Documentation, of the original Familial Lewy Body Parkinsonism caused by α-Synuclein Triplication (Iowa Kindred)

Identifieur interne : 000180 ( Pmc/Curation ); précédent : 000179; suivant : 000181

Clinical Features, with Video Documentation, of the original Familial Lewy Body Parkinsonism caused by α-Synuclein Triplication (Iowa Kindred)

Auteurs : Katrina Gwinn [États-Unis] ; Michael J. Devine [Royaume-Uni] ; Lee-Way Jin [États-Unis] ; Janel Johnson [États-Unis] ; Thomas Bird [États-Unis] ; Manfred Muenter [États-Unis] ; Cheryl Waters [États-Unis] ; Charles H. Adler [États-Unis] ; Richard Caselli [États-Unis] ; Henry Houlden [Royaume-Uni] ; Grisel Lopez [États-Unis] ; Amanda Singleton [États-Unis] ; John Hardy [Royaume-Uni] ; Andrew Singleton [États-Unis]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2011.

RBID : PMC:3170657
Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170657

DOI: 10.1002/mds.23776
PubMed: 21656851
PubMed Central: 3170657

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PMC:3170657

Le document en format XML

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<wicri:regionArea>Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG</wicri:regionArea>
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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2011">2011</date>
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  <pmc-dir>properties manuscript</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-journal-id">8610688</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5937</journal-id>
<journal-id journal-id-type="nlm-ta">Mov Disord</journal-id>
<journal-title-group><journal-title>Movement disorders : official journal of the Movement Disorder Society</journal-title>
</journal-title-group>
<issn pub-type="ppub">0885-3185</issn>
<issn pub-type="epub">1531-8257</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">21656851</article-id>
<article-id pub-id-type="pmc">3170657</article-id>
<article-id pub-id-type="doi">10.1002/mds.23776</article-id>
<article-id pub-id-type="manuscript">NIHMS288968</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Clinical Features, with Video Documentation, of the original Familial Lewy Body Parkinsonism caused by α-Synuclein Triplication (Iowa Kindred)</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Gwinn</surname>
<given-names>Katrina</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="author-notes" rid="FN1">†</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Devine</surname>
<given-names>Michael J.</given-names>
</name>
<degrees>MB BS</degrees>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="author-notes" rid="FN1">†</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jin</surname>
<given-names>Lee-Way</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Johnson</surname>
<given-names>Janel</given-names>
</name>
<degrees>BA</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bird</surname>
<given-names>Thomas</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Muenter</surname>
<given-names>Manfred</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Waters</surname>
<given-names>Cheryl</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Adler</surname>
<given-names>Charles H.</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Caselli</surname>
<given-names>Richard</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Houlden</surname>
<given-names>Henry</given-names>
</name>
<degrees>MD PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lopez</surname>
<given-names>Grisel</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Singleton</surname>
<given-names>Amanda</given-names>
</name>
<degrees>BS</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hardy</surname>
<given-names>John</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Singleton</surname>
<given-names>Andrew</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
National Institutes of Neurological Disorders and Stroke, Bethesda, MD, USA</aff>
<aff id="A2"><label>2</label>
Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, United Kingdom</aff>
<aff id="A3"><label>3</label>
University of Washington, Seattle, WA, USA</aff>
<aff id="A4"><label>4</label>
Mayo Clinic, Scottsdale, AZ, USA</aff>
<aff id="A5"><label>5</label>
Columbia University College of Physicians and Surgeons New York, NY, USA</aff>
<aff id="A6"><label>6</label>
National Human Genome Research Institute, Bethesda, MD, USA</aff>
<aff id="A7"><label>7</label>
National Institute for Aging, Bethesda MD, USA</aff>
<author-notes><corresp id="CR1"><label>*</label>
<bold>Corresponding author</bold>
 Department of Molecular Neuroscience, UCL Institute of Neurology Queen Square, London, WC1N 3BG, United Kingdom Tel: 44 (0) 207 837 3611 x4320 Fax: 44 (0) 207 833 1016 <email>m.devine@ion.ucl.ac.uk</email>
</corresp>
<fn fn-type="equal" id="FN1"><label>†</label>
<p id="P1">These authors contributed equally to this work</p>
</fn>
<fn id="FN2"><p id="P2"><bold>Author roles</bold>
 Katrina Gwinn: Evaluated cases 9-58,9-60, 9-70, 9-77, 9-430. Researched and built pedigree. Clinical and video documentation. Drafted manuscript.</p>
<p id="P3">Michael J. Devine: Reviewed and edited videos and drafted and submitted manuscript.</p>
<p id="P4">Lee-Way Jin: Carried out pathological diagnosis of case 9-70.</p>
<p id="P5">Janel Johnson: Helped in family collection and mutation analysis.</p>
<p id="P6">Thomas Bird: Carried out clinical investigations on case 9-70 and other family members.</p>
<p id="P7">Henry Houlden: Clinical evaluation and fibroblast sampling of case 9-60.</p>
<p id="P8">Manfred Muenter: Evaluated cases 9-58,9-60, 9-70, 9-77. Built pedigree. Clinical and video documentation.</p>
<p id="P9">Grisel Lopez: Clinical evaluation of case 9-60 and IRB documentation.</p>
<p id="P10">Cheryl Waters: Evaluated case 9-246. Clinical and video documentation.</p>
<p id="P11">Charles H. Adler: Evaluated cases 9-70, 9-77. Clinical and video documentation.</p>
<p id="P12">Richard Caselli: Evaluated cases 9-70, 9-77. Neuropsychometric testing interpretation.</p>
<p id="P13">Amanda Singleton: Research coordinator of clinical and video evaluation.</p>
<p id="P14">John Hardy: Obtained funding and drafted manuscript.</p>
<p id="P15">Andrew Singleton: Supervised mutation analysis.</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>26</day>
<month>4</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="epub"><day>8</day>
<month>6</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="ppub"><month>9</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>1</day>
<month>9</month>
<year>2012</year>
</pub-date>
<volume>26</volume>
<issue>11</issue>
<fpage>2134</fpage>
<lpage>2136</lpage>
</article-meta>
</front>
</pmc>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical Features, with Video Documentation, of the original Familial Lewy Body Parkinsonism caused by α-Synuclein Triplication (Iowa Kindred)

Clinical Features, with Video Documentation, of the original Familial Lewy Body Parkinsonism caused by α-Synuclein Triplication (Iowa Kindred)

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