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Retricted access

Research article

First published 2017-7

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights

Uluç Yiş, Kerstin Becker, Semra Hız Kurul [...]

Journal of Child Neurology

Free access

Brief report

First published 2021

COVID-19 in a Cohort of Patients with Congenital Myasthenic Syndrome

Setareh Alabaf, Karen O’Connell, Sithara Ramdas [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2000-2

Congenital Myasthenic Syndrome: A Rare,Potentially Treatable Cause of Respiratory Failure in a “Floppy” Infant

P. P. McConkey, A. J. Mullens

Anaesthesia and Intensive Care

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Research article

First published 2021-7

Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features

Devin E. Prior, Partha S. Ghosh

Journal of Child Neurology

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Research article

First published 2014-3

Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants

Robertino Dilena, Angela Abicht, Paola Sergi [...]

Journal of Child Neurology

Open access

Review article

First published 2023-09-08

Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models

Alessia Pugliese, Stephen H. Holland, Carmelo Rodolico [...]

Journal of Neuromuscular Diseases

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Review article

First published 1998-05

REVIEW ■ : Molecular Basis of Congenital Myasthenic Syndromes: Mutations in the Acetylcholine Receptor

Andrew G. Engel, Kinji Ohno, Hai-Long Wang [...]

The Neuroscientist

Open access

Review article

First published 2017

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

Sophie Nicole, Yoshiteru Azuma, Stéphanie Bauché [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2023

Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

J.J. Kramer, H.T.M. Boon, Q.H. Leijten [...]

Journal of Neuromuscular Diseases

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Research article

First published 1988-10

Congenital Myasthenic Syndromes

Andrew G. Engel

Journal of Child Neurology

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