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Moderate phenotype of a congenital myasthenic syndrome type 19 in an Algerian patient
Journal of the Neurological Sciences
◽
10.1016/j.jns.2021.118280
◽
2021
◽
Vol 429
◽
pp. 118280
Author(s):
Mohamed Islam Kediha
◽
Meriem Tazir
◽
Damien Sternberg
◽
Bruno Eymard
◽
Lamia Ali Pacha
Keyword(s):
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Myasthenic Syndrome
Download Full-text
Related Documents
Cited By
References
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
The American Journal of Human Genetics
◽
10.1016/j.ajhg.2015.10.017
◽
2015
◽
Vol 97
(6)
◽
pp. 878-885
◽
Cited By ~ 37
Author(s):
Clare V. Logan
◽
Judith Cossins
◽
Pedro M. Rodríguez Cruz
◽
David A. Parry
◽
Susan Maxwell
◽
...
Keyword(s):
Collagen Type
◽
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Fibrillar Collagen
◽
Myasthenic Syndrome
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A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20
Neuromuscular Disorders
◽
10.1016/j.nmd.2018.06.020
◽
2018
◽
Vol 28
(10)
◽
pp. 881-884
◽
Cited By ~ 6
Author(s):
J.M. Pardal-Fernández
◽
M.C. Carrascosa-Romero
◽
S. Álvarez
◽
M.C. Medina-Monzón
◽
M. Bengoa Caamaño
◽
...
Keyword(s):
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Severe Mutation
◽
Myasthenic Syndrome
Download Full-text
Congenital myasthenic syndrome type 19 due to a novel mutation in the COL13A1 GENE
Muscle & Nerve
◽
10.1002/mus.26494
◽
2019
◽
Cited By ~ 1
Author(s):
Robert J. Marquardt
◽
Yuebing Li
Keyword(s):
Novel Mutation
◽
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Myasthenic Syndrome
Download Full-text
Congenital Myasthenic Syndrome Type 9
Genetic Neuromuscular Disorders
◽
10.1007/978-3-319-56454-8_59
◽
2017
◽
pp. 227-228
Author(s):
Corrado Angelini
Keyword(s):
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Myasthenic Syndrome
Download Full-text
Review for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"
10.1111/cge.13678/v2/review1
◽
2019
◽
Keyword(s):
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Missense Mutations
◽
Myasthenic Syndrome
Download Full-text
Author response for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"
10.1111/cge.13678/v2/response1
◽
2019
◽
Author(s):
Amna Al‐Futaisi
◽
Faraz Ahmad
◽
Ghalia Al‐Kasbi
◽
Khalid Al‐Thihli
◽
Roshan Koul
◽
...
Keyword(s):
Author Response
◽
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Missense Mutations
◽
Myasthenic Syndrome
Download Full-text
Decision letter for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"
10.1111/cge.13678/v2/decision1
◽
2019
◽
Keyword(s):
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Missense Mutations
◽
Myasthenic Syndrome
Download Full-text
Review for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"
10.1111/cge.13678/v1/review1
◽
2019
◽
Keyword(s):
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Missense Mutations
◽
Myasthenic Syndrome
Download Full-text
Decision letter for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"
10.1111/cge.13678/v1/decision1
◽
2019
◽
Keyword(s):
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Missense Mutations
◽
Myasthenic Syndrome
Download Full-text
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23
Clinical Genetics
◽
10.1111/cge.13678
◽
2019
◽
Vol 97
(4)
◽
pp. 666-667
◽
Cited By ~ 1
Author(s):
Amna Al‐Futaisi
◽
Faraz Ahmad
◽
Ghalia Al‐Kasbi
◽
Khalid Al‐Thihli
◽
Roshan Koul
◽
...
Keyword(s):
Congenital Myasthenic Syndrome
◽
Syndrome Type
◽
Missense Mutations
◽
Myasthenic Syndrome
Download Full-text
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