Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.
about
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factorsPaternal transmission and anticipation in schizophreniaInheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansionsCAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.The role of interruptions in polyQ in the pathology of SCA1.Reproductive fitness in familial schizophrenia.The likelihood of being affected with Huntington disease by a particular age, for a specific CAG sizeGenetic characterization of Spinocerebellar ataxia 1 in a South Indian cohortCorrelation between CAG repeat length and clinical features in Machado-Joseph diseaseAnticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia.The inherited ataxias and the new genetics.Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.Protein Misfolding and Aggregation as a Therapeutic Target for Polyglutamine Diseases.Genetic instability associated with loop or stem-loop structures within transcription units can be independent of nucleotide excision repair.Medical genetics: advances in brief: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1.
P2860
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P2860
Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Effect of trinucleotide repeat ...... n in spinocerebellar ataxia I.
@ast
Effect of trinucleotide repeat ...... n in spinocerebellar ataxia I.
@en
type
label
Effect of trinucleotide repeat ...... n in spinocerebellar ataxia I.
@ast
Effect of trinucleotide repeat ...... n in spinocerebellar ataxia I.
@en
prefLabel
Effect of trinucleotide repeat ...... n in spinocerebellar ataxia I.
@ast
Effect of trinucleotide repeat ...... n in spinocerebellar ataxia I.
@en
P2093
P2860
P1476
Effect of trinucleotide repeat ...... on in spinocerebellar ataxia I
@en
P2093
A E Harding
A Novelletto
C Morocutti
F Persichetti
L Terrenato
M Frontali
P Malaspina
P2860
P304
P407
P577
1994-06-01T00:00:00Z