The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation.
Identifieur interne : 000133 ( PubMed/Checkpoint ); précédent : 000132; suivant : 000134The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation.
Auteurs : Lucia Ricciardi [Royaume-Uni] ; Simona Petrucci [Italie] ; Daniela Di Giuda [Italie] ; Laura Serra [Italie] ; Barbara Span [Italie] ; Mariachiara Sensi [Italie] ; Monia Ginevrino [Italie] ; Fabrizio Cocciolillo [Italie] ; Marco Bozzali [Italie] ; Enza Maria Valente [Italie] ; Alfonso Fasano [Canada]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2016.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : alpha-Synuclein.
- diagnosis : Parkinson Disease.
- genetics : Parkinson Disease.
- Adult, Female, Humans, Male, Middle Aged, Mutation, Pedigree, Phenotype.
DOI: 10.1002/mds.26549
PubMed: 26799529
Affiliations:
- Canada, Italie, Royaume-Uni
- Angleterre, Grand Londres, Latium
- Londres, Rome
- University College de Londres
Links toward previous steps (curation, corpus...)
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pubmed:26799529Le document en format XML
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Anna University-Hospital of Ferrara, Ferrara, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neuroscience-Rehabilitation, S. 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Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Parkinson Disease (diagnosis)</term><term>Parkinson Disease (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>alpha-Synuclein (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26799529</PMID><DateCreated><Year>2016</Year><Month>02</Month><Day>08</Day></DateCreated><DateCompleted><Year>2016</Year><Month>12</Month><Day>13</Day></DateCompleted><DateRevised><Year>2016</Year><Month>12</Month><Day>30</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>31</Volume><Issue>2</Issue><PubDate><Year>2016</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation.</ArticleTitle><Pagination><MedlinePgn>257-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.26549</ELocationID><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ricciardi</LastName><ForeName>Lucia</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petrucci</LastName><ForeName>Simona</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology and Psychiatry, "Sapienza" University of Rome, Rome, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute and San Giovanni Rotondo, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Di Giuda</LastName><ForeName>Daniela</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institute of Nuclear Medicine, Università Cattolica del Sacro Cuore, A. Gemelli University Hospital, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Serra</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Spanò</LastName><ForeName>Barbara</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sensi</LastName><ForeName>Mariachiara</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Neuroscience-Rehabilitation, S. Anna University-Hospital of Ferrara, Ferrara, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ginevrino</LastName><ForeName>Monia</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute and San Giovanni Rotondo, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cocciolillo</LastName><ForeName>Fabrizio</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Institute of Nuclear Medicine, Università Cattolica del Sacro Cuore, A. Gemelli University Hospital, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bozzali</LastName><ForeName>Marco</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Valente</LastName><ForeName>Enza Maria</ForeName><Initials>EM</Initials><AffiliationInfo><Affiliation>IRCCS Casa Sollievo della Sofferenza, CSS-Mendel Institute and San Giovanni Rotondo, Rome, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Medicine and Surgery, University of Salerno, Salerno, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Fasano</LastName><ForeName>Alfonso</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016422">Letter</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>01</Month><Day>22</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C497604">SNCA protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051844">alpha-Synuclein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051844" MajorTopicYN="N">alpha-Synuclein</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>07</Month><Day>18</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2015</Year><Month>11</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>12</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>1</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>1</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>12</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26799529</ArticleId><ArticleId IdType="doi">10.1002/mds.26549</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Latium</li></region><settlement><li>Londres</li><li>Rome</li></settlement><orgName><li>University College de Londres</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Ricciardi, Lucia" sort="Ricciardi, Lucia" uniqKey="Ricciardi L" first="Lucia" last="Ricciardi">Lucia Ricciardi</name></region></country><country name="Italie"><region name="Latium"><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name></region><name sortKey="Bozzali, Marco" sort="Bozzali, Marco" uniqKey="Bozzali M" first="Marco" last="Bozzali">Marco Bozzali</name><name sortKey="Cocciolillo, Fabrizio" sort="Cocciolillo, Fabrizio" uniqKey="Cocciolillo F" first="Fabrizio" last="Cocciolillo">Fabrizio Cocciolillo</name><name sortKey="Di Giuda, Daniela" sort="Di Giuda, Daniela" uniqKey="Di Giuda D" first="Daniela" last="Di Giuda">Daniela Di Giuda</name><name sortKey="Ginevrino, Monia" sort="Ginevrino, Monia" uniqKey="Ginevrino M" first="Monia" last="Ginevrino">Monia Ginevrino</name><name sortKey="Sensi, Mariachiara" sort="Sensi, Mariachiara" uniqKey="Sensi M" first="Mariachiara" last="Sensi">Mariachiara Sensi</name><name sortKey="Serra, Laura" sort="Serra, Laura" uniqKey="Serra L" first="Laura" last="Serra">Laura Serra</name><name sortKey="Span, Barbara" sort="Span, Barbara" uniqKey="Span B" first="Barbara" last="Span">Barbara Span</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></country><country name="Canada"><noRegion><name sortKey="Fasano, Alfonso" sort="Fasano, Alfonso" uniqKey="Fasano A" first="Alfonso" last="Fasano">Alfonso Fasano</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation.
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