Associated Papers
Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series.
Murtazina A et al.
Frontiers in Pediatrics, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.
Rogac M et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.
Babić Božović I et al.
Plos One, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
McMacken G et al.
Journal of Neurology, 2018
Congenital myasthenic syndrome with episodic apnea.
Mallory LA et al.
Pediatric Neurology, 2009
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.
Barisic N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2005
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