Clinical aspects of CAG repeat diseases (Q41527046)

2 October 2017

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title

Clinical aspects of CAG repeat diseases (English)

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2 October 2017

Nance MA

1

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2 October 2017

1 July 1997

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2 October 2017

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2 October 2017

7

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2 October 2017

3

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2 October 2017

881-900

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A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure

2 October 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Clinical and genetic analysis of a Tunisian family with autosomal dominant cerebellar ataxia type 1 linked to the SCA2 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Somatic stability in chorionic villi samples and other Huntington fetal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Differential cognitive impairment in Alzheimer's disease and Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Molecular re-investigation of patients with Huntington's disease in Wessex reveals a family with dentatorubral and pallidoluysian atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Ataxia, chorea, seizures, and dementia. Pathologic features of a newly defined familial disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

The hypothalamic lateral tuberal nucleus and the characteristics of neuronal loss in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Distribution of androgen receptors in bulbospinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Factors associated with slow progression in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Characteristics of individuals with Huntington disease in long-term care

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Clinical and electrodiagnostic features of X-linked recessive bulbospinal neuronopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Transmission distortion of the mutant alleles in spinocerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Late-onset X-linked recessive spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Autosomal dominant motor system disease of the Portuguese: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Hereditary motor neuron disease: the proximal, adult, sex-linked form (or Kennedy disease). Clinical and neuroendocrinologic observations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Unusual form of cerebellar ataxia; combined dentato-rubral and pallido-Luysian degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Prevalence and pattern of spinocerebellar degenerations in northeastern Libya

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Heredo-degenerative hemiballismus; a contribution to the question of primary atrophy of the corpus luysii.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Hereditary ataxia with optic atrophy of the retrobulbar neuritis type, and latent pallido-luysian degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Autosomal-dominant dentatorubropallidoluysian atrophy in the United Kingdom

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

CT in autosomal dominant and idiopathic cerebellar ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Magnetic resonance imaging in hereditary and idiopathic ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Homozygous inheritance of the Machado-Joseph disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

SCA2 is not a major locus for ADCA type I in French families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.1997.TB00892.X

10.1111/J.1750-3639.1997.TB00892.X

21 January 2018

Identifiers

DOI

1 reference

2 October 2017

1 reference

PubMed ID

9217974