Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey-Reference-Cited by-同舟云学术

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey

Published:2022-09-12 Issue: Volume: Page:
ISSN:0300-9009
Container-title:Acta Neurologica Belgica
language:en
Short-container-title:Acta Neurol Belg

Author:

Yildiz Edibe Pembegul^ORCID,Kilic Mehmet Akif,Yalcin Emek Uyur,Kurekci Fulya,Avci Ridvan,Hacıfazlıoğlu Nilüfer Eldeş,Ceylaner Serdar,Gezdirici Alper,Çalışkan Mine

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s13760-022-02090-0.pdf

Reference22 articles.

1. Engel AG, Shen XM, Selcen D, Sine SM (2015) Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol 14(4):420–434

2. Hacer D, Shen XM, Serdaroglu-Oflazer P et al (2018) Congenital myasthenic syndromes in Turkey: clinical clues and prognosis with long term follow-up. Neuromuscul Disord 28:315–322

3. McMacken G, Abicht A, Evangelista T, Spendiff S, Lochmu¨ ller H, (2017) The increasing genetic and phenotypical diversity of congenital myasthenic syndromes. Neuropediatrics 48:294–308

4. Abicht A, Dusl M, Gallenmuller C et al (2012) Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat 33(10):1474–1484

5. Pattrakornkul N, Ittiwut C, Boonsimma P et al (2020) Congenital myasthenic syndromes in the Thai population: clinical findings and novel mutations. Neuromuscul Disord 30:851–858

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