Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations-Reference-Cited by-同舟云学术

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Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations

Published:2022-11 Issue: Volume:136 Page:43-49
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Öztürk Selcan,Güleç Ayten,Erdoğan Murat,Demir Mikail,Canpolat Mehmet,Gümüş Hakan,Çağlayan Ahmet Okay,Dündar Munis,Per Hüseyin

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference32 articles.

1. Congenital myasthenic syndromes;Finsterer;Orphanet J Rare Dis,2019

2. Italian recommendations for diagnosis and management of congenital myasthenic syndromes;Maggi;Neurol Sci,2019

3. Congenital myasthenic syndromes: where do we go from here?;Ramdas;Neuromuscul Disord,2021

4. How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia;Parr;Arch Dis Child,2014

5. Childhood myasthenia: clinical subtypes and practical management;Parr;Dev Med Child Neurol,2007

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series;Frontiers in Pediatrics;2024-01-18

2. Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey;Acta Neurologica Belgica;2023-09-01

3. The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome;Biomolecules and Biomedicine;2023-02-20

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

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