[Clinical and genetic studies of a family from Peru affected by spinocerebellar ataxia type 7].

No abstract is available for this paper.

• Publication year

  2000

• Venue

  Revista de neurología (Ed. impresa)

• Publication date

  2000-11-16

• Fields of study

  Medicine

• Identifiers
  DOI 10.33588/RN.3110.2000351PMID 11244684
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  1998cited by this paper
• Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

  1998cited by this paper
• The CAG/Polyglutamine Tract Diseases: Gene Products and Molecular Pathogenesis

  1997cited by this paper
• Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

  1997cited by this paper
• The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.

  1996cited by this paper
• Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.

  1996cited by this paper
• Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p

  1995cited by this paper
• Unique features of the CAG repeats in Machado–Joseph disease

  1995cited by this paper
• Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

  1995cited by this paper
• The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

  1995cited by this paper
• Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11

  1994cited by this paper
• Autosomal dominant cerebellar ataxia with retinal degeneration

  1994cited by this paper
• Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

  1993cited by this paper
• Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1

  1993cited by this paper
• Autosomal dominant cerebellar phenotypes

  1990cited by this paper
• Autosomal dominant cerebellar phenotypes

  1990cited by this paper
• 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'.

  1982cited by this paper
• Hereditary olivopontocerebellar atrophy with retinal degeneration. Report of a family through six generations.

  1967cited by this paper

• The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

  2019cites this paper
• Origin of the Spinocerebellar Ataxia Type 7 Gene Mutation in Mexican Population

  2013cites this paper
• Neurodegenerative diseases: The spinocerebellar ataxia type 7 in Mexico Enfermedades neurodegenerativas: La ataxia espinocerebelosa tipo 7 en México

  2013cites this paper
• A Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7

  2010cites this paper
• [Spinocerebellar ataxia 7. Clinical and genetic investigation in an Argentine family].

  2007cites this paper
• Ataxia espinocerebelosa 7 investigacion clinica y genetica en una familia argentina

  2007cites this paper
• [Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family].

  2004cites this paper