Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

X-linked Charcot-Marie-Tooth disease (CMTX) is a clinically heterogeneous hereditary motor and sensory neuropathy with X-linked transmission. Common clinical manifestations of CMTX, as in other forms of Charcot-Marie-Tooth disease (CMT), are distal muscle wasting and weakness, hyporeflexia, distal s...

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Xehetasun bibliografikoak
Egile Nagusiak:	Lee, M, Nelson, I, Houlden, H, Sweeney, MG, Hilton-Jones, D, Blake, J, Wood, N, Reilly, M
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2002

Antzeko izenburuak

Connexin32 and X-linked Charcot–Marie–Tooth Disease
nork: Linda Jo Bone, et al.
Argitaratua: (1997-01-01)

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
nork: Fairweather, N, et al.
Argitaratua: (1994)

X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels
nork: Jack Butler, et al.
Argitaratua: (2023-12-01)

Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease
nork: Hung-Li Wang, et al.
Argitaratua: (2004-03-01)

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
nork: Sand Jette C, et al.
Argitaratua: (2007-07-01)

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease
nork: Sabine Kovale, et al.
Argitaratua: (2021-06-01)

A novel splicing mutation in 5'UTR of GJB1 causes X‐linked Charcot—Marie–tooth disease
nork: MeiYi Li, et al.
Argitaratua: (2023-03-01)

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
nork: Pericak-Vance, M, et al.
Argitaratua: (1995)

Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease
nork: Fan Chu, et al.
Argitaratua: (2022-09-01)

A novel GJB1 mutation associated with X‐linked Charcot–Marie–Tooth disease in a large Chinese family pedigree
nork: Yingdi Liu, et al.
Argitaratua: (2020-03-01)

Corrigendum: Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease
nork: Fan Chu, et al.
Argitaratua: (2023-09-01)

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
nork: Pitceathly, R, et al.
Argitaratua: (2012)

CHARCOT-MARIE-TOOTH DISEASE
nork: Lea Leonardis, et al.
Argitaratua: (2003-09-01)

Charcot–Marie–Tooth Disease
nork: Hafiz Muhammad Noman, Haleema Akbar et al
Argitaratua: (2018-06-01)

Charcot-Marie-Tooth disease
nork: Alulin Tácio Quadros Santos Monteiro Fonseca, MD, et al.
Argitaratua: (2018-09-01)

X-Linked Charcot-Marie-Tooth Disease in 93 Patients
nork: J Gordon Millichap
Argitaratua: (2001-10-01)

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
nork: Si Luo, et al.
Argitaratua: (2019-04-01)

Charcot‐Marie‐Tooth disease in children
nork: Ezgi Saylam, et al.
Argitaratua: (2024-12-01)

Physiotherapy of Charcot–Marie–Tooth disease
nork: N. A. Shnayder, et al.
Argitaratua: (2015-02-01)

Genetics of Charcot-Marie-Tooth Disease
nork: J Gordon Millichap
Argitaratua: (1998-05-01)

21548. ENFERMEDAD DE CHARCOT-MARIE-TOOTH DE TIPO INTERMEDIO: PERFILES CLÍNICO-GENÉTICOS MÁS ALLÁ DEL GJB1
nork: J. Jiménez Jiménez, et al.
Argitaratua: (2024-11-01)

Alterações audiológicas na doença de Charcot-Marie-Tooth Audiological findings in the Charcot-Marie-Tooth disease
nork: Erika Fukushima, et al.
Argitaratua: (2011-02-01)

Enfermedad de Charcot Marie Tooth en un niño Charcot-Marie-Tooth disease in a child
nork: Teresa Vidal Pérez, et al.
Argitaratua: (2012-11-01)

Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot–Marie–Tooth disease
nork: Massimiliano Bicego, et al.
Argitaratua: (2006-03-01)

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report
nork: Youlong Liang, et al.
Argitaratua: (2019-12-01)

Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease
nork: Sherif Ali Eltawansy, et al.
Argitaratua: (2015-01-01)

Early Onset Charcot-Marie-Tooth Disease
nork: J Gordon Millichap
Argitaratua: (2005-06-01)

Molecular Diagnosis of Charcot-Marie Tooth Disease
nork: J. Gordon Millichap
Argitaratua: (2002-02-01)

Charcot-Marie-Tooth Disease Subtypes and Genetics
nork: J Gordon Millichap
Argitaratua: (2011-03-01)

Ascorbic Acid in Charcot-Marie-Tooth Disease
nork: J Gordon Millichap
Argitaratua: (2009-12-01)

Neurofilaments in health and Charcot-Marie-Tooth disease
nork: Farah Kotaich, et al.
Argitaratua: (2023-12-01)

Progress in treatment of Charcot-Marie-Tooth disease
nork: Ru-xu ZHANG, et al.
Argitaratua: (2017-08-01)

Pain in Charcot-Marie-Tooth disease: an update
nork: Helen Azevedo, et al.

Pé cavo adquirido na doença de Charcot-Marie-Tooth Acquired pes cavus in Charcot-Marie-Tooth disease
nork: Daniel Augusto Carvalho Maranho, et al.
Argitaratua: (2009-01-01)

Current Treatment Methods for Charcot–Marie–Tooth Diseases
nork: Hongxian Dong, et al.
Argitaratua: (2024-09-01)

POLG1 Mutations and Charcot-Marie-Tooth Disease
nork: J Gordon Millichap
Argitaratua: (2008-02-01)

Targeting muscle to treat Charcot-Marie-Tooth disease
nork: David Villarroel-Campos, et al.
Argitaratua: (2024-01-01)

Rehabilitation in Charcot-Marie-Tooth disease type 1
nork: Manoj Mannil, et al.
Argitaratua: (2014-09-01)

Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease
nork: J. Berciano, et al.
Argitaratua: (2012-04-01)

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease
nork: Cara R. Schiavon, et al.
Argitaratua: (2021-02-01)