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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
1999-7-15
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pubmed:abstractText |
To characterize the nature of CACNA1A mutations in episodic ataxia type 2 (EA2), to search for mutations in sporadic cases, and to delineate better the clinical spectrum.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0028-3878
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pubmed:author |
pubmed-author:AlamowitchSS,
pubmed-author:AutretAA,
pubmed-author:CastelnovoGG,
pubmed-author:DenierCC,
pubmed-author:DeonnaTT,
pubmed-author:DevoizeJ LJL,
pubmed-author:DucrowMM,
pubmed-author:GérardPP,
pubmed-author:GayouAA,
pubmed-author:JoutelAA,
pubmed-author:PerroutyBB,
pubmed-author:RitzAA,
pubmed-author:RoulletEE,
pubmed-author:SoissonTT,
pubmed-author:ThierryPP,
pubmed-author:Tournier-LasserveEE,
pubmed-author:VahediKK,
pubmed-author:Van BogaertPP,
pubmed-author:VighettoAA,
pubmed-author:WarterJ MJM
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pubmed:issnType |
Print
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pubmed:day |
10
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1816-21
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10371528-Adolescent,
pubmed-meshheading:10371528-Adult,
pubmed-meshheading:10371528-Age of Onset,
pubmed-meshheading:10371528-Cerebellar Ataxia,
pubmed-meshheading:10371528-Child,
pubmed-meshheading:10371528-Child, Preschool,
pubmed-meshheading:10371528-Chromosome Mapping,
pubmed-meshheading:10371528-Female,
pubmed-meshheading:10371528-Humans,
pubmed-meshheading:10371528-Male,
pubmed-meshheading:10371528-Middle Aged,
pubmed-meshheading:10371528-Mutation,
pubmed-meshheading:10371528-Pedigree,
pubmed-meshheading:10371528-Polymorphism, Genetic,
pubmed-meshheading:10371528-Time Factors,
pubmed-meshheading:10371528-Trinucleotide Repeats
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pubmed:year |
1999
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pubmed:articleTitle |
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
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pubmed:affiliation |
INSERM U25, Faculté de Médecine Necker, Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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