The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

Eitemau Tebyg

• Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes
  gan: Webster, Richard G.
  Cyhoeddwyd: (2018)
• Muscle magnetic resonance imaging in congenital myasthenic syndromes
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  Cyhoeddwyd: (2016)
• Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
  gan: Belaya, Katsiaryna, et al.
  Cyhoeddwyd: (2015)
• Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure
  gan: Rodríguez Cruz, Pedro M., et al.
  Cyhoeddwyd: (2019)
• Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission
  gan: Cossins, Judith, et al.
  Cyhoeddwyd: (2020)