(Q74015109)

English

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

scientific article published on 01 August 2000

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scholarly article

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8 November 2019

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families (English)

1 reference

Europe PubMed Central

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8 November 2019

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Barbara Castellotti

2

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8 November 2019

Vincenzo Silani

7

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8 November 2019

Gabriele Siciliano

10

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8 November 2019

12

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8 November 2019

author name string

C Mariotti

1

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8 November 2019

D Pareyson

3

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8 November 2019

D Testa

4

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8 November 2019

M Eoli

5

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8 November 2019

C Antozzi

6

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8 November 2019

R Marconi

8

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8 November 2019

F Tezzon

9

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8 November 2019

C Marchini

11

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8 November 2019

S D Donato

13

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8 November 2019

publication date

1 August 2000

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8 November 2019

Neuromuscular Disorders

1 reference

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8 November 2019

10

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8 November 2019

6

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8 November 2019

391-397

1 reference

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8 November 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Kennedy disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The androgen receptor gene mutations database.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Kennedy's disease: clinical and molecular study of two Italian families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Atypical clinical presentations of X-linked spinal and bulbar muscular atrophy in patients with mild CAG expansions in androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALS.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked recessive bulbospinal neuronopathy: a report of ten cases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked recessive bulbospinal neuronopathy: clinical phenotypes and CAG repeat size in androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Discordant repeat size and phenotype in Kennedy syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900132-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(99)00132-7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899444%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899444%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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