X inactivation in females with X-linked Charcot–Marie–Tooth disease-Reference-Cited by-同舟云学术

X inactivation in females with X-linked Charcot–Marie–Tooth disease

Published:2012-07 Issue:7 Volume:22 Page:617-621
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Murphy Sinéad M.,Ovens Richard,Polke James,Siskind Carly E.,Laurà Matilde,Bull Karen,Ramdharry Gita,Houlden Henry,Murphy Raymond P.J.,Shy Michael E.,Reilly Mary M.

Publisher

Elsevier BV

Subject

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

Reference26 articles.

1. SIMPLE mutation analysis in dominant demyelinating Charcot–Marie–Tooth disease: three novel mutations;Latour;J Peripher Nerv Syst,2006

2. Charcot–Marie–Tooth disease subtypes and genetic testing strategies;Saporta;Ann Neurol,2011

3. A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot–Marie–Tooth disease;Murphy;J Peripher Nerv Syst,2011

4. Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction;Houlden;Ann Neurol,2004

5. CMT1X phenotypes represent loss of GJB1 gene function;Shy;Neurology,2007

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1. Case report on a de novo variant in the X-linked PRPS1 gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient;Ophthalmic Genetics;2024-08-16

2. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants;Brain;2023-06-07

3. Clinical genetics of Charcot–Marie–Tooth disease;Journal of Human Genetics;2022-03-18

4. Systematic review of CMTX1 patients with episodic neurological dysfunction;Annals of Clinical and Translational Neurology;2020-12-12

5. Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1;Frontiers in Neurology;2020-01-28