Expanding the clinical phenotype of SNCA duplication carriers
Identifieur interne : 002313 ( Main/Exploration ); précédent : 002312; suivant : 002314Expanding the clinical phenotype of SNCA duplication carriers
Auteurs : Kenya Nishioka [Japon, États-Unis] ; Owen A. Ross [États-Unis] ; Kenji Ishii [Japon] ; Jennifer M. Kachergus [États-Unis] ; Kiichi Ishiwata [Japon] ; Mayumi Kitagawa [Japon] ; Satoshi Kono [Japon] ; Tomokazu Obi [Japon] ; Koichi Mizoguchi [Japon] ; Yuichi Inoue [Japon] ; Hisamasa Imai [Japon] ; Masashi Takanashi [Japon] ; Yoshikuni Mizuno [Japon] ; Matthew J. Farrer [États-Unis] ; Nobutaka Hattori [Japon]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-09-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Brain (pathology), Brain (radionuclide imaging), Carbon Isotopes (diagnostic use), Carrier, Chromosome Mapping (methods), Cocaine (analogs & derivatives), Cocaine (diagnostic use), Dementia, Duplication, Emission tomography, Family Health, Female, Fluorodeoxyglucose F18 (diagnostic use), Gene Dosage, Gene Duplication, Gene penetrance, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Nervous system diseases, PET, Parkinson Disease (complications), Parkinson Disease (genetics), Parkinson Disease (radionuclide imaging), Parkinson disease, Parkinson's disease, Phenotype, Positron emission tomography, Positron-Emission Tomography (methods), REM Sleep Behavior Disorder (etiology), REM Sleep Behavior Disorder (genetics), Raclopride (diagnostic use), SNCA duplication, Sensory Thresholds (physiology), Smell (physiology), Young Adult, alpha-Synuclein (genetics), dementia, reduced penetrance.
- MESH :
- chemical , analogs & derivatives : Cocaine.
- chemical , diagnostic use : Carbon Isotopes, Cocaine, Fluorodeoxyglucose F18, Raclopride.
- complications : Parkinson Disease.
- etiology : REM Sleep Behavior Disorder.
- genetics : Parkinson Disease, REM Sleep Behavior Disorder, alpha-Synuclein.
- methods : Chromosome Mapping, Positron-Emission Tomography.
- pathology : Brain.
- physiology : Sensory Thresholds, Smell.
- radionuclide imaging : Brain, Parkinson Disease.
- Adult, Aged, Family Health, Female, Gene Dosage, Gene Duplication, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Phenotype, Young Adult.
Abstract
SNCA duplication is a recognized cause of familial Parkinson's disease (PD). We aimed to explore the genetic and clinical variability in the disease manifestation. Molecular characterization was performed using real‐time PCR, SNP arrays, and haplotype analysis. We further studied those patients who were found to harbor SNCA duplication with olfactory function tests, polysomnography, and PET. We identified four new families and one sporadic patient with SNCA duplication. Eleven symptomatic patients from these four families presented with parkinsonism, of which three subsequently developed dementia. The lifetime estimate of overall penetrance was 43.8%. FDG–PET study of symptomatic patients showed hypometabolism in the occipital lobe, whereas asymptomatic carriers of SNCA duplication demonstrated normal glucose metabolism. Symptomatic patients showed abnormal olfactory function and polysomnography and asymptomatic carriers showed normal results. The clinical features of SNCA duplication include parkinsonism with or without dementia. Asymptomatic carriers displayed normal test results with the eldest individual aged 79 years; thus, even a carrier of SNCA duplication may escape the development of PD. This difference in age‐associated penetrance may be due to the genetic background or environmental exposures. Further studies of SNCA duplication carriers will help identify disease‐modifiers and may open novel avenues for future treatment. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22682
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001196
- to stream Istex, to step Curation: 001196
- to stream Istex, to step Checkpoint: 000F15
- to stream PubMed, to step Corpus: 001C34
- to stream PubMed, to step Curation: 001C34
- to stream PubMed, to step Checkpoint: 001E18
- to stream Ncbi, to step Merge: 002743
- to stream Ncbi, to step Curation: 002743
- to stream Ncbi, to step Checkpoint: 002743
- to stream Main, to step Merge: 002B74
- to stream PascalFrancis, to step Corpus: 000D58
- to stream PascalFrancis, to step Curation: 001F61
- to stream PascalFrancis, to step Checkpoint: 000E84
- to stream Main, to step Merge: 002F81
- to stream Main, to step Curation: 002313
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Expanding the clinical phenotype of SNCA duplication carriers</title><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></author><author><name sortKey="Ishii, Kenji" sort="Ishii, Kenji" uniqKey="Ishii K" first="Kenji" last="Ishii">Kenji Ishii</name></author><author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name></author><author><name sortKey="Ishiwata, Kiichi" sort="Ishiwata, Kiichi" uniqKey="Ishiwata K" first="Kiichi" last="Ishiwata">Kiichi Ishiwata</name></author><author><name sortKey="Kitagawa, Mayumi" sort="Kitagawa, Mayumi" uniqKey="Kitagawa M" first="Mayumi" last="Kitagawa">Mayumi Kitagawa</name></author><author><name sortKey="Kono, Satoshi" sort="Kono, Satoshi" uniqKey="Kono S" first="Satoshi" last="Kono">Satoshi Kono</name></author><author><name sortKey="Obi, Tomokazu" sort="Obi, Tomokazu" uniqKey="Obi T" first="Tomokazu" last="Obi">Tomokazu Obi</name></author><author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name></author><author><name sortKey="Inoue, Yuichi" sort="Inoue, Yuichi" uniqKey="Inoue Y" first="Yuichi" last="Inoue">Yuichi Inoue</name></author><author><name sortKey="Imai, Hisamasa" sort="Imai, Hisamasa" uniqKey="Imai H" first="Hisamasa" last="Imai">Hisamasa Imai</name></author><author><name sortKey="Takanashi, Masashi" sort="Takanashi, Masashi" uniqKey="Takanashi M" first="Masashi" last="Takanashi">Masashi Takanashi</name></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:9CFDD6174F7B8FA0534091A488A8B9E5A9B1A40D</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1002/mds.22682</idno><idno type="url">https://api.istex.fr/document/9CFDD6174F7B8FA0534091A488A8B9E5A9B1A40D/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001196</idno><idno type="wicri:Area/Istex/Curation">001196</idno><idno type="wicri:Area/Istex/Checkpoint">000F15</idno><idno type="wicri:doubleKey">0885-3185:2009:Nishioka K:expanding:the:clinical</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:19562770</idno><idno type="wicri:Area/PubMed/Corpus">001C34</idno><idno type="wicri:Area/PubMed/Curation">001C34</idno><idno type="wicri:Area/PubMed/Checkpoint">001E18</idno><idno type="wicri:Area/Ncbi/Merge">002743</idno><idno type="wicri:Area/Ncbi/Curation">002743</idno><idno type="wicri:Area/Ncbi/Checkpoint">002743</idno><idno type="wicri:Area/Main/Merge">002B74</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:09-0431502</idno><idno type="wicri:Area/PascalFrancis/Corpus">000D58</idno><idno type="wicri:Area/PascalFrancis/Curation">001F61</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000E84</idno><idno type="wicri:doubleKey">0885-3185:2009:Nishioka K:expanding:the:clinical</idno><idno type="wicri:Area/Main/Merge">002F81</idno><idno type="wicri:Area/Main/Curation">002313</idno><idno type="wicri:Area/Main/Exploration">002313</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Expanding the clinical phenotype of SNCA duplication carriers</title><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Bunkyo‐ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ishii, Kenji" sort="Ishii, Kenji" uniqKey="Ishii K" first="Kenji" last="Ishii">Kenji Ishii</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Tokyo Metropolitan Institute of Gerontology, Itabashi‐ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ishiwata, Kiichi" sort="Ishiwata, Kiichi" uniqKey="Ishiwata K" first="Kiichi" last="Ishiwata">Kiichi Ishiwata</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Tokyo Metropolitan Institute of Gerontology, Itabashi‐ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kitagawa, Mayumi" sort="Kitagawa, Mayumi" uniqKey="Kitagawa M" first="Mayumi" last="Kitagawa">Mayumi Kitagawa</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Sapporo Azabu Neurosurgical Hospital, Higashi‐ku, Sapporo</wicri:regionArea><wicri:noRegion>Sapporo</wicri:noRegion></affiliation></author><author><name sortKey="Kono, Satoshi" sort="Kono, Satoshi" uniqKey="Kono S" first="Satoshi" last="Kono">Satoshi Kono</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Hamamatsu University School of Medicine, Shizuoka</wicri:regionArea><wicri:noRegion>Shizuoka</wicri:noRegion></affiliation></author><author><name sortKey="Obi, Tomokazu" sort="Obi, Tomokazu" uniqKey="Obi T" first="Tomokazu" last="Obi">Tomokazu Obi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</wicri:regionArea><wicri:noRegion>Shizuoka</wicri:noRegion></affiliation></author><author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</wicri:regionArea><wicri:noRegion>Shizuoka</wicri:noRegion></affiliation></author><author><name sortKey="Inoue, Yuichi" sort="Inoue, Yuichi" uniqKey="Inoue Y" first="Yuichi" last="Inoue">Yuichi Inoue</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Japan Somnology Center, Neuropsychiatric Research Institute, Shibuya‐ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Imai, Hisamasa" sort="Imai, Hisamasa" uniqKey="Imai H" first="Hisamasa" last="Imai">Hisamasa Imai</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Tokyo Rinkai Hospital, Edogawa‐ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Takanashi, Masashi" sort="Takanashi, Masashi" uniqKey="Takanashi M" first="Masashi" last="Takanashi">Masashi Takanashi</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Bunkyo‐ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Bunkyo‐ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neurogenetics, Department of Neuroscience, Mayo Clinic, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Bunkyo‐ku, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-09-15">2009-09-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1811">1811</biblScope><biblScope unit="page" to="1819">1819</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9CFDD6174F7B8FA0534091A488A8B9E5A9B1A40D</idno><idno type="DOI">10.1002/mds.22682</idno><idno type="ArticleID">MDS22682</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Brain (pathology)</term><term>Brain (radionuclide imaging)</term><term>Carbon Isotopes (diagnostic use)</term><term>Carrier</term><term>Chromosome Mapping (methods)</term><term>Cocaine (analogs & derivatives)</term><term>Cocaine (diagnostic use)</term><term>Dementia</term><term>Duplication</term><term>Emission tomography</term><term>Family Health</term><term>Female</term><term>Fluorodeoxyglucose F18 (diagnostic use)</term><term>Gene Dosage</term><term>Gene Duplication</term><term>Gene penetrance</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>PET</term><term>Parkinson Disease (complications)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (radionuclide imaging)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Phenotype</term><term>Positron emission tomography</term><term>Positron-Emission Tomography (methods)</term><term>REM Sleep Behavior Disorder (etiology)</term><term>REM Sleep Behavior Disorder (genetics)</term><term>Raclopride (diagnostic use)</term><term>SNCA duplication</term><term>Sensory Thresholds (physiology)</term><term>Smell (physiology)</term><term>Young Adult</term><term>alpha-Synuclein (genetics)</term><term>dementia</term><term>reduced penetrance</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>Cocaine</term></keywords><keywords scheme="MESH" type="chemical" qualifier="diagnostic use" xml:lang="en"><term>Carbon Isotopes</term><term>Cocaine</term><term>Fluorodeoxyglucose F18</term><term>Raclopride</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>REM Sleep Behavior Disorder</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>REM Sleep Behavior Disorder</term><term>alpha-Synuclein</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Chromosome Mapping</term><term>Positron-Emission Tomography</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Sensory Thresholds</term><term>Smell</term></keywords><keywords scheme="MESH" qualifier="radionuclide imaging" xml:lang="en"><term>Brain</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Family Health</term><term>Female</term><term>Gene Dosage</term><term>Gene Duplication</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Duplication</term><term>Démence</term><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Phénotype</term><term>Porteur</term><term>Pénétrance génique</term><term>Tomographie par émission de positons</term><term>Tomoscintigraphie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">SNCA duplication is a recognized cause of familial Parkinson's disease (PD). We aimed to explore the genetic and clinical variability in the disease manifestation. Molecular characterization was performed using real‐time PCR, SNP arrays, and haplotype analysis. We further studied those patients who were found to harbor SNCA duplication with olfactory function tests, polysomnography, and PET. We identified four new families and one sporadic patient with SNCA duplication. Eleven symptomatic patients from these four families presented with parkinsonism, of which three subsequently developed dementia. The lifetime estimate of overall penetrance was 43.8%. FDG–PET study of symptomatic patients showed hypometabolism in the occipital lobe, whereas asymptomatic carriers of SNCA duplication demonstrated normal glucose metabolism. Symptomatic patients showed abnormal olfactory function and polysomnography and asymptomatic carriers showed normal results. The clinical features of SNCA duplication include parkinsonism with or without dementia. Asymptomatic carriers displayed normal test results with the eldest individual aged 79 years; thus, even a carrier of SNCA duplication may escape the development of PD. This difference in age‐associated penetrance may be due to the genetic background or environmental exposures. Further studies of SNCA duplication carriers will help identify disease‐modifiers and may open novel avenues for future treatment. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Japon</li><li>États-Unis</li></country><region><li>Floride</li></region><settlement><li>Tokyo</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name></noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Imai, Hisamasa" sort="Imai, Hisamasa" uniqKey="Imai H" first="Hisamasa" last="Imai">Hisamasa Imai</name><name sortKey="Inoue, Yuichi" sort="Inoue, Yuichi" uniqKey="Inoue Y" first="Yuichi" last="Inoue">Yuichi Inoue</name><name sortKey="Ishii, Kenji" sort="Ishii, Kenji" uniqKey="Ishii K" first="Kenji" last="Ishii">Kenji Ishii</name><name sortKey="Ishiwata, Kiichi" sort="Ishiwata, Kiichi" uniqKey="Ishiwata K" first="Kiichi" last="Ishiwata">Kiichi Ishiwata</name><name sortKey="Kitagawa, Mayumi" sort="Kitagawa, Mayumi" uniqKey="Kitagawa M" first="Mayumi" last="Kitagawa">Mayumi Kitagawa</name><name sortKey="Kono, Satoshi" sort="Kono, Satoshi" uniqKey="Kono S" first="Satoshi" last="Kono">Satoshi Kono</name><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><name sortKey="Obi, Tomokazu" sort="Obi, Tomokazu" uniqKey="Obi T" first="Tomokazu" last="Obi">Tomokazu Obi</name><name sortKey="Takanashi, Masashi" sort="Takanashi, Masashi" uniqKey="Takanashi M" first="Masashi" last="Takanashi">Masashi Takanashi</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name></region><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Kachergus, Jennifer M" sort="Kachergus, Jennifer M" uniqKey="Kachergus J" first="Jennifer M." last="Kachergus">Jennifer M. Kachergus</name><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002313 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002313 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:9CFDD6174F7B8FA0534091A488A8B9E5A9B1A40D
|texte= Expanding the clinical phenotype of SNCA duplication carriers
}}
| This area was generated with Dilib version V0.6.23. |  |