Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. - Wikidata - awgldk - TriplyDB

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

http://www.wikidata.org/entity/Q43708057

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Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?Inactivation of hnRNP K by expanded intronic AUUCU repeat induces apoptosis via translocation of PKCdelta to mitochondria in spinocerebellar ataxia 10 Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10 A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures Brain pathology of spinocerebellar ataxias.Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype.Fine-scale linkage mapping reveals a small set of candidate genes influencing honey bee grooming behavior in response to Varroa mites.Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast.Expansion of the Spinocerebellar ataxia type 10 (SCA10) repeat in a patient with Sioux Native American ancestry Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China Transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder.Spinocerebellar ataxia type 10: from Amerindians to Latin Americans.Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection Parkinson's disease associated with pure ATXN10 repeat expansion Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.Spinocerebellar ataxias in Brazil--frequencies and modulating effects of related genes.Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan.Cognitive dysfunction in spinocerebellar ataxias.Cognitive impairment in Spinocerebellar ataxia type 10.Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10.Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.Spinocerebellar ataxia type 10 in the French population.A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

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P2860

Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

http://www.wikidata.org/entity/Q43708057

description

2001 nî lūn-bûn

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2001年の論文

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年學術文章

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2001年學術文章

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2001年學術文章

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Clinical and genetic analysis ...... pinocerebellar ataxia type 10.

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Clinical and genetic analysis ...... pinocerebellar ataxia type 10.

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type

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Clinical and genetic analysis ...... pinocerebellar ataxia type 10.

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Clinical and genetic analysis ...... pinocerebellar ataxia type 10.

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Clinical and genetic analysis ...... pinocerebellar ataxia type 10.

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Clinical and genetic analysis ...... pinocerebellar ataxia type 10.

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P1433

Annals of Neurology

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Clinical and genetic analysis ...... pinocerebellar ataxia type 10.

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P2093

Alonso E

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Ashizawa T

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Matsuura T

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Ochoa A

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Rasmussen A

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Ruano L

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Yescas P

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P2860

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

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234-239

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10.1002/ANA.1081

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2

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50

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2001-08-01T00:00:00Z

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11506407

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