Congenital Myasthenic Syndromes: a Clinical and Treatment Approach

Therapeutic strategies for congenital myasthenic syndromes

(2018) Manon Lee et al.   Annals of the New York Academy of Sciences

Congenital Myasthenic Syndromes

(2018) Perry B. Shieh et al.   NEUROLOGIC CLINICS

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes

(2017) Angela Abicht et al.   NEUROPEDIATRICS

Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

(2017) Xin-Ming Shen et al.   Annals of Clinical and Translational Neurology

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

(2016) Stéphanie Bauché et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital myasthenic syndromes

(2016) David Beeson   CURRENT OPINION IN NEUROLOGY

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

(2016) Pedro M Rodríguez Cruz et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Rapsyn congenital myasthenic syndrome worsened by fluoxetine

(2016) Amy C. Visser et al.   MUSCLE & NERVE

Amifampridine phosphate in congenital myasthenic syndrome

(2016) Sumit Verma et al.   MUSCLE & NERVE

Variants inSLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

(2016) Gina L. O'Grady et al.   NEUROLOGY

Corrections

(2015)   LANCET NEUROLOGY

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

(2015) Pedro M. Rodríguez Cruz et al.   NEUROLOGY

Electrophysiologic features ofSYT2mutations causing a treatable neuromuscular syndrome

(2015) Roger G. Whittaker et al.   NEUROLOGY

Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia

(2015) Duygu Selcen et al.   JAMA Neurology

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

(2014) L. Regal et al.   NEUROLOGY

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

(2014) X.-M. Shen et al.   NEUROLOGY

DPAGT1 myasthenia and myopathy: Genetic, phenotypic, and expression studies

(2014) D. Selcen et al.   NEUROLOGY

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

(2013) Bisei Ohkawara et al.   HUMAN MOLECULAR GENETICS

GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity

(2013) D. Selcen et al.   NEUROLOGY

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

(2011) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia

(2011) Teerin Liewluck et al.   MUSCLE & NERVE

Beneficial effect of albuterol in congenital myasthenic syndrome with epsilon-subunit mutations

(2011) Menachem Sadeh et al.   MUSCLE & NERVE

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

(2009) Caroline Huzé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients

(2009) M. Milone et al.   NEUROLOGY

REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK-RELATED CONGENITAL MYASTHENIC SYNDROMES

(2009) V. Mihaylova et al.   NEUROLOGY

Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY