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rdf:type |
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lifeskim:mentions |
umls-concept:C0002351,
umls-concept:C0015576,
umls-concept:C0018591,
umls-concept:C0205210,
umls-concept:C0237401,
umls-concept:C0520716,
umls-concept:C0596611,
umls-concept:C0598429,
umls-concept:C1556084,
umls-concept:C1707455,
umls-concept:C1720655,
umls-concept:C1947974,
umls-concept:C2348519,
umls-concept:C2700455
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pubmed:issue |
6
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pubmed:dateCreated |
2002-6-11
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|
pubmed:abstractText |
An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopontonigral degeneration (PPND family) was recently found in members of a French kindred with dementia and supranuclear palsy.
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pubmed:grant |
|
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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:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0003-9942
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pubmed:author |
pubmed-author:BakerMatthewM,
pubmed-author:Brefel-CourbonChristineC,
pubmed-author:DelisleMarie-BernadetteMB,
pubmed-author:FerreiraJoaquim JJJ,
pubmed-author:GhettiBernardinoB,
pubmed-author:HuttonMichaelM,
pubmed-author:MurrellJill RJR,
pubmed-author:RascolOlivierO,
pubmed-author:TsuboiYoshioY,
pubmed-author:UittiRyan JRJ,
pubmed-author:WszolekZbigniew KZK
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pubmed:issnType |
Print
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pubmed:volume |
59
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pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
943-50
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:12056930-Adult,
pubmed-meshheading:12056930-Asparagine,
pubmed-meshheading:12056930-Dementia,
pubmed-meshheading:12056930-Exons,
pubmed-meshheading:12056930-Female,
pubmed-meshheading:12056930-Genetic Linkage,
pubmed-meshheading:12056930-Haplotypes,
pubmed-meshheading:12056930-Humans,
pubmed-meshheading:12056930-Lysine,
pubmed-meshheading:12056930-Male,
pubmed-meshheading:12056930-Middle Aged,
pubmed-meshheading:12056930-Mutation, Missense,
pubmed-meshheading:12056930-Pedigree,
pubmed-meshheading:12056930-Supranuclear Palsy, Progressive,
pubmed-meshheading:12056930-tau Proteins
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pubmed:year |
2002
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pubmed:articleTitle |
Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family.
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pubmed:affiliation |
Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224, USA.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
|
