FXTAS, SCA10, and SCA17 in American patients with movement disorders.

FXTAS, SCA10, and SCA17 in American patients with movement disorders.

Item
http://www.wikidata.org/entity/Q51930184
Unstable mutations in the FMR1 gene and the phenotypesFragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesAn enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene.Size bias of fragile X premutation alleles in late-onset movement disorders.Premutations in the FMR1 gene are uncommon in men undergoing genetic testing for spinocerebellar ataxia.The fragile X continuum: new advances and perspectives.Spinocerebellar ataxia type 17 in a patient from an Indian kindred.A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.A novel trinucleotide repeat expansion at chromosome 3q26.2 identified by a CAG/CTG repeat expansion detection array.FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.
P2860

FXTAS, SCA10, and SCA17 in American patients with movement disorders.

Item
http://www.wikidata.org/entity/Q51930184
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
FXTAS, SCA10, and SCA17 in American patients with movement disorders.
@en
FXTAS, SCA10, and SCA17 in American patients with movement disorders.
@nl
type
label
FXTAS, SCA10, and SCA17 in American patients with movement disorders.
@en
FXTAS, SCA10, and SCA17 in American patients with movement disorders.
@nl
prefLabel
FXTAS, SCA10, and SCA17 in American patients with movement disorders.
@en
FXTAS, SCA10, and SCA17 in American patients with movement disorders.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
FXTAS, SCA10, and SCA17 in American patients with movement disorders
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698