Author response for &#34;Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23&#34;

Syndrome Type ◽

Missense Mutations ◽

Review for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"

10.1111/cge.13678/v2/review1 ◽

2019 ◽

Keyword(s):

Syndrome Type ◽

Missense Mutations ◽

Decision letter for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"

10.1111/cge.13678/v2/decision1 ◽

2019 ◽

Keyword(s):

Syndrome Type ◽

Missense Mutations ◽

Review for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"

10.1111/cge.13678/v1/review1 ◽

2019 ◽

Keyword(s):

Syndrome Type ◽

Missense Mutations ◽

Decision letter for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"

10.1111/cge.13678/v1/decision1 ◽

2019 ◽

Keyword(s):

Syndrome Type ◽

Missense Mutations ◽

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):

Syndrome Type ◽

Missense Mutations ◽

Review for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"

10.1111/cge.13678/v1/review2 ◽

2019 ◽

Author(s):

Eduardo Paula, de Estephan

Keyword(s):

Syndrome Type ◽

Missense Mutations ◽

Review for "Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23"

10.1111/cge.13678/v2/review2 ◽

2019 ◽

Author(s):

Eduardo Paula, de Estephan

Keyword(s):

Syndrome Type ◽

Missense Mutations ◽

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 ◽

Syndrome Type ◽

Fibrillar Collagen ◽

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):

Syndrome Type ◽

Severe Mutation ◽

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 ◽

Syndrome Type ◽