Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. - Wikidata - awgldk - TriplyDB

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

http://www.wikidata.org/entity/Q39123310

about

Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement Infantile onset spinocerebellar ataxia 2 (SCA2): a clinical report with review of previous cases.Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model.De novo mutations in ataxin-2 gene and ALS risk.Spinocerebellar ataxia type 2 presenting with cognitive regression in childhood.Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.The Multiple Faces of Spinocerebellar Ataxia type 2.Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay.Infantile childhood onset of spinocerebellar ataxia type 2.Spinocerebellar ataxia type 2 in a Turkish family.Neonatal SCA2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia

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P2860

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

http://www.wikidata.org/entity/Q39123310

description

2002 nî lūn-bûn

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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2002年论文

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2002年论文

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name

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

@en

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

@nl

type

label

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

@en

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

@nl

prefLabel

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

@en

Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

@nl

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P1433

American Journal of Medical Genetics Part A

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Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7.

@en

P2093

Arthur S Aylsworth

http://www.w3.org/2001/XMLSchema#string

Christopher M Gomez

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Dusica Babovic-Vuksanovic

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Galen Breningstall

http://www.w3.org/2001/XMLSchema#string

Karen Snow

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Martha Nance

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Myra J Wick

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Nicholas Potter

http://www.w3.org/2001/XMLSchema#string

Rong Mao

http://www.w3.org/2001/XMLSchema#string

William G Wilson

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease

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

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

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'.

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

P304

338-345

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scholarly article

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10.1002/AJMG.10467

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4

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110

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Marc C. Patterson

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2002-07-01T00:00:00Z

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11262942

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P698

12116207

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