|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
10
|
|
pubmed:dateCreated |
2010-3-9
|
|
pubmed:abstractText |
Large kindreds segregating familial Alzheimer disease (FAD) offer the opportunity of studying clinical variability as observed for presenilin 1 (PSEN1) mutations. Two early-onset FAD (EOFAD) Calabrian families with PSEN1 Met146Leu (ATG/CTG) mutation constitute a unique population descending from a remote common ancestor. Recently, several other EOFAD families with the same mutation have been described worldwide.
|
|
pubmed:grant |
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Mar
|
|
pubmed:issn |
1526-632X
|
|
pubmed:author |
pubmed-author:AbbamondiNN,
pubmed-author:AnfossiMM,
pubmed-author:BernardiLL,
pubmed-author:BruniA CAC,
pubmed-author:BugianiOO,
pubmed-author:ClodomiroAA,
pubmed-author:ColasNN,
pubmed-author:CurcioS A MSA,
pubmed-author:Di LorenzoRR,
pubmed-author:FoncinJ FJF,
pubmed-author:ForloniGG,
pubmed-author:FrangipaneFF,
pubmed-author:GalloMM,
pubmed-author:GeracitanoSS,
pubmed-author:GiacconeGG,
pubmed-author:LeottaAA,
pubmed-author:LinS FSF,
pubmed-author:MalettaRR,
pubmed-author:MilanGG,
pubmed-author:MirabelliMM,
pubmed-author:MuracaM GMG,
pubmed-author:OGISS,
pubmed-author:PappatàSS,
pubmed-author:PinessiLL,
pubmed-author:PostiglioneAA,
pubmed-author:PuccioGG,
pubmed-author:RaineroII,
pubmed-author:RogaevaEE,
pubmed-author:RubinoEE,
pubmed-author:SmirneNN,
pubmed-author:SorbiSS,
pubmed-author:SpillantiniM GMG,
pubmed-author:St George HyslopPP,
pubmed-author:TerniBB,
pubmed-author:TomainoCC
|
|
pubmed:issnType |
Electronic
|
|
pubmed:day |
9
|
|
pubmed:volume |
74
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
798-806
|
|
pubmed:meshHeading |
pubmed-meshheading:20164095-Adult,
pubmed-meshheading:20164095-Alzheimer Disease,
pubmed-meshheading:20164095-Brain,
pubmed-meshheading:20164095-Cognition Disorders,
pubmed-meshheading:20164095-Family Health,
pubmed-meshheading:20164095-Female,
pubmed-meshheading:20164095-Fluorodeoxyglucose F18,
pubmed-meshheading:20164095-Gene Frequency,
pubmed-meshheading:20164095-Genetic Predisposition to Disease,
pubmed-meshheading:20164095-Genetic Testing,
pubmed-meshheading:20164095-Genotype,
pubmed-meshheading:20164095-History, 17th Century,
pubmed-meshheading:20164095-History, 21st Century,
pubmed-meshheading:20164095-Humans,
pubmed-meshheading:20164095-International Cooperation,
pubmed-meshheading:20164095-Italy,
pubmed-meshheading:20164095-Leucine,
pubmed-meshheading:20164095-Male,
pubmed-meshheading:20164095-Memory Disorders,
pubmed-meshheading:20164095-Methionine,
pubmed-meshheading:20164095-Middle Aged,
pubmed-meshheading:20164095-Mutation,
pubmed-meshheading:20164095-Phenotype,
pubmed-meshheading:20164095-Positron-Emission Tomography,
pubmed-meshheading:20164095-Presenilin-1,
pubmed-meshheading:20164095-World Health
|
|
pubmed:year |
2010
|
|
pubmed:articleTitle |
Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.
|
|
pubmed:affiliation |
Centro Regionale di Neurogenetica, Azienda Sanitaria Provinciale Catanzaro, Viale A. Perugini, 88046 Lamezia Terme (CZ), Italy. bruni@arn.it
|
|
pubmed:publicationType |
Journal Article,
Historical Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
|
