Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans-Reference-Cited by-同舟云学术

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Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans

Published:2001-02-13 Issue:4 Volume:98 Page:2017-2022
ISSN:0027-8424
Container-title:Proceedings of the National Academy of Sciences
language:en
Short-container-title:Proceedings of the National Academy of Sciences

Author:

Ohno K.,Tsujino A.,Brengman J. M.,Harper C. M.,Bajzer Z.,Udd B.,Beyring R.,Robb S.,Kirkham F. J.,Engel A. G.

Publisher

Proceedings of the National Academy of Sciences

Subject

Multidisciplinary

Reference40 articles.

1. Familial infantile myasthenia gravis: A cause of sudden death in young children

2. Clinical Syndromes of Myasthenia in Infancy and Childhood

3. Familial Infantile Myasthenia

4. Arthrogryposis Multiplex Congenita due to Congenital Myasthenia

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2. Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit;Journal of Neuromuscular Diseases;2024-09-03

3. Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases;BMC Medical Genomics;2024-08-12

4. The Importance of Early Treatment of Inherited Neuromuscular Conditions;Journal of Neuromuscular Diseases;2024-03-05

5. Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice;Human Gene Therapy;2024-02-01

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