Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Neuromuscular junction involvement in inherited motor neuropathies: genetic heterogeneity and effect of oral salbutamol treatment.
McMacken G et al.
Journal of Neurology, 2023
Exome sequencing and microarray identified a novel large exonic deletion in SYT2 gene in an ultra-rare case with recessive CMS type 7.
Kumar CPR et al.
Journal of Genetics, 2023
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Pugliese A et al.
Journal of Neuromuscular Diseases, 2023
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
Fionda L et al.
Journal of the Peripheral Nervous System : Jpns, 2021
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Bauché S et al.
Neurology. Genetics, 2020
Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy.
Mironovich O et al.
Genes, 2020
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Donkervoort S et al.
American Journal of Medical Genetics. Part A, 2020
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM et al.
International Journal of Molecular Sciences, 2018
Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.
Webster RG
International Journal of Molecular Sciences, 2018
Congenital myasthenic syndromes: recent advances.
Beeson D
Current Opinion in Neurology, 2016
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome.
Whittaker RG et al.
Neurology, 2015
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
Herrmann DN et al.
American Journal of Human Genetics, 2014
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