scholarly article | Q13442814 |
P356 | DOI | 10.1002/ANA.410370207 |
P698 | PubMed publication ID | 7847859 |
P50 | author | Yves Agid | Q3573439 |
Geraldine Cancel-Tassin | Q30831039 | ||
Giovanni Stevanin | Q41859352 | ||
Hervé Chneiweiss | Q43119133 | ||
P2093 | author name string | A. Dürr | |
A. Brice | |||
O. Dubourg | |||
C. Penet | |||
P2860 | cites work | A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. | Q27860836 |
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p | Q28250966 | ||
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) | Q28250990 | ||
Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1 | Q28261862 | ||
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy | Q34023072 | ||
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. | Q34353488 | ||
Trinucleotide repeat length instability and age of onset in Huntington's disease | Q34357407 | ||
Olivopontocerebellar atrophy. A review of 117 cases | Q40338959 | ||
Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. | Q41516217 | ||
Letter: Hereditary ataxia and HL-A genotypes | Q45177005 | ||
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I | Q57970958 | ||
P433 | issue | 2 | |
P304 | page(s) | 176-180 | |
P577 | publication date | 1995-02-01 | |
P1433 | published in | Annals of Neurology | Q564414 |
P1476 | title | Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations | |
P478 | volume | 37 |
Q51029887 | Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies): genetic analysis of three unrelated SCA2 families. |
Q34698782 | Autosomal dominant hereditary ataxia in Sri Lanka. |
Q24675962 | Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1 |
Q30632837 | Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data |
Q33703940 | CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci |
Q41527046 | Clinical Aspects of CAG Repeat Diseases |
Q36929755 | Cognition in hereditary ataxia |
Q46925753 | Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene |
Q33734674 | Diagnosis of inherited metabolic disorders affecting the nervous system |
Q81665579 | Dominantly inherited ataxias. Part II |
Q41840241 | Electrophysiological features of central motor conduction in spinocerebellar atrophy type 1, type 2, and Machado-Joseph disease |
Q57319085 | Gender equality in Machado–Joseph disease |
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Q46514864 | Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. |
Q24538696 | Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation |
Q35644427 | Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus |
Q77511031 | Rapid touchdown PCR assay for the molecular diagnosis of spinocerebellar ataxia type 2 |
Q33735577 | Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation |
Q51034618 | Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. |
Q35643594 | Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia |
Q58027536 | Spinocerebellar ataxia type 1 in Russia |
Q40181792 | Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions. |
Q49131319 | Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings |
Q81101672 | The clinical diagnosis of autosomal dominant spinocerebellar ataxias |
Q57969491 | The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1 |
Q41456204 | The genetic defect causing Huntington's disease: repeated in other contexts? |
Q46147011 | The hereditary adult-onset ataxias in South Africa |
Q36897398 | The inherited ataxias and the new genetics |
Q35215614 | The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study. |
Q42037666 | The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia |
Q54575453 | Toxicity of expanded polyglutamine-domain proteins in Escherichia coli. |
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