(Q46445613)

22 December 2017

title

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. (English)

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22 December 2017

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spinocerebellar ataxia

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8

Zoghbi HY

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22 December 2017

Gouw LG

1

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22 December 2017

Kaplan CD

2

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22 December 2017

Haines JH

3

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22 December 2017

Digre KB

4

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22 December 2017

Rutledge SL

5

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22 December 2017

Matilla A

6

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22 December 2017

Leppert M

7

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22 December 2017

Ptácek LJ

9

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22 December 2017

language of work or name

English

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publication date

1 May 1995

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22 December 2017

published in

Nature Genetics

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22 December 2017

volume

10

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22 December 2017

page(s)

89-93

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22 December 2017

issue

1

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22 December 2017

https://scigraph.springernature.com/pub.10.1038/ng0595-89

exact match

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cites work

Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred

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Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

21 January 2018

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7 January 2021

HIV or zidovudine myopathy?

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7 January 2021

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

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7 January 2021

Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing

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7 January 2021

Regional mapping of the gene for autosomal dominant spinocerebellar ataxia (SCA1) by localizing the closely linked D6S89 locus to 6p24.2----p23.05

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7 January 2021

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

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7 January 2021

Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

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7 January 2021

The gene for Machado-Joseph disease maps to human chromosome 14q

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7 January 2021

Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred

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7 January 2021

Evidence for the existence of a fourth dominantly inherited spinocerebellar ataxia locus

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7 January 2021

Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus

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7 January 2021

Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I

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7 January 2021

Olivopontocerebellar atrophy with retinal degeneration. An electroretinographic and histopathologic investigation

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7 January 2021

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

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7 January 2021

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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7 January 2021

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

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7 January 2021

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

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7 January 2021

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

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7 January 2021

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

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7 January 2021

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

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Polymorphic DNA region adjacent to the 5' end of the human insulin gene

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7 January 2021

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

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7 January 2021

The 1993-94 Généthon human genetic linkage map

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7 January 2021

Strategies for multilocus linkage analysis in humans

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7 January 2021

Identifiers

DOI

10.1038/NG0595-89

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22 December 2017

PubMed ID

7647799

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22 December 2017