Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome-Reference-Cited by-同舟云学术

Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome

Published:2020-07 Issue:7 Volume:30 Page:611-615
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Al-Muhaizea Mohammad A.,AlQuait Laila,AlRasheed Afnan,AlHarbi Shoug,Albader Anoud Abdulmalik,AlMass Rawan,Albakheet Albandary,Alhumaidan Abdullah,AlRasheed Maha M.,Colak Dilek,Kaya Namik

Funder

King Faisal Specialist Hospital and Research Center

KFSHRC

Publisher

Elsevier BV

Subject

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

Reference29 articles.

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3. Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits;Azuma;Neuromuscul Disord,2015

4. Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1;Basiri;Neuromuscul Disord,2013

5. Congenital myasthenic syndromes in Turkey: clinical clues and prognosis with long term follow-up;Durmus;Neuromuscul Disord,2018

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1. Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases;Pediatric Neurology;2024-08

3. Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals;Journal of Human Genetics;2024-02-14

4. Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models;Journal of Neuromuscular Diseases;2023-09-08

5. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review;International Journal of Molecular Sciences;2023-02-13