260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference36 articles.
1. A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era;Thompson;Orphanet J Rare Dis,2018
2. Congenital myasthenic syndromes in Turkey: clinical clues and prognosis with long term follow-up;Durmus;Neuromuscul Disord,2018
3. Long term follow-up on pediatric cases with congenital myasthenic syndromes-a retrospective single centre cohort study;Della Marina;Front Hum Neurosci,2020
4. Molecular characterization of congenital myasthenic syndromes in Spain;Natera-de Benito;Neuromuscul Disord,2017
5. Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients;Abicht;Hum Mutat,2012
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1. 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
2. Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients;Pediatric Neurology;2024-09
3. Building, Breaking, and Repairing Neuromuscular Synapses;Cold Spring Harbor Perspectives in Biology;2024-05
4. Molecular mechanisms and therapeutic strategies for neuromuscular diseases;Cellular and Molecular Life Sciences;2024-04-28
5. A Novel Homozygous Variant in the CHRNE Gene in 2 Siblings with Congenital Myasthenic Syndrome;Child Neurology Open;2023-01
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