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-Reference-Cited by-同舟云学术

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

Published:2000-08 Issue:6 Volume:10 Page:391-397
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Mariotti Caterina,Castellotti Barbara,Pareyson Davide,Testa Daniela,Eoli Marica,Antozzi Carlo,Silani Vincenzo,Marconi Roberto,Tezzon Frediano,Siciliano Gabriele,Marchini Corrado,Gellera Cinzia,Di Donato Stefano

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference26 articles.

1. Progressive proximal and bulbar muscular atrophy of late onset: a sex-linked recessive trait;Kennedy;Neurology,1968

2. Androgen receptor mutation in X-linked spinal and bulbar muscular atrophy;La Spada;Nature,1991

3. The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis;Koshy;Brain Pathol,1997

4. CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation;Neuschmid-Kaspar;Mol Cell Endocrinol,1996

5. Kennedy disease;Fischbeck;J Inher Metab Dis,1997

Cited by 113 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Brain–body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosis;Nature Reviews Neurology;2024-07-04

2. A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy's disease) and the length of CAG repeats in the androgen receptor gene;eNeurologicalSci;2024-03

3. Efficacy of leuprorelin in spinal and bulbar muscular atrophy: a 3-year observational study;Neurological Sciences;2024-02-24

4. Whole‐Body Muscle Magnetic Resonance Imaging in 81 Patients with Spinal and Bulbar Muscular Atrophy: A Prospective Study;Annals of Neurology;2023-12-22

5. More than autophony: a case of Kennedy's disease presenting with autophony as an early clinical manifestation;The Journal of Laryngology & Otology;2023-10-05