<scp> <i>GJB1</i> </scp> variants in <scp>Charcot‐Marie‐Tooth</scp> disease X‐linked type 1 in Mali-Reference-Cited by-同舟云学术

GJB1 variants in Charcot‐Marie‐Tooth disease X‐linked type 1 in Mali

Published:2022-04-05 Issue:2 Volume:27 Page:113-119
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripheral Nervous Sys

Author:

Yalcouyé Abdoulaye¹²^ORCID,Diallo Seybou H.²³,Cissé Lassana⁴,Karembé Mamadou⁴,Diallo Salimata³,Coulibaly Thomas²⁴,Diarra Salimata²⁵,Coulibaly Dramane⁶,Keita Mohamed²⁷,Guinto Cheick O.²⁴,Fischbeck Kenneth H.⁵,Wonkam Ambroise¹^ORCID,Landouré Guida²⁴⁵,

Affiliation:

1. Division of Human Genetics, Department of Pathology University of Cape Town Cape Town South Africa

2. Faculté de Médecine et d'Odontostomatologie, USTTB Bamako Mali

3. Service de Neurologie, Centre Hospitalier Universitaire Gabriel Touré Bamako Mali

4. Service de Neurologie, Centre Hospitalier Universitaire du Point “G” Bamako Mali

5. Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke Bethesda Maryland USA

6. Service de Médecine, Centre Hospitalier Universitaire Mère‐Enfant le "Luxembourg" Bamako Mali

7. Service d'ORL, Centre Hospitalier Universitaire Gabriel Touré Bamako Mali

Funder

African Academy of Sciences

National Institutes of Health

Wellcome Trust

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12486

Reference33 articles.

1. Charcot-Marie-Tooth disease and related neuropathies: Molecular basis for distinction and diagnosis

2. The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

3. Clinical and biophysical characterization of 19 GJB1 mutations

4. Charcot-marie-tooth disease subtypes and genetic testing strategies

5. Hereditary motor and sensory neuropathies.

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