Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes

[1]  E. Zanoteli,et al.  Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia , 2020, Neuromuscular Disorders.

[2]  A. Engel,et al.  Determinants of the repetitive-CMAP occurrence and therapy efficacy in slow-channel myasthenia , 2020, Neurology.

[3]  S. Iyadurai.  Congenital Myasthenic Syndromes. , 2020, Neurologic clinics.

[4]  D. Neubauer,et al.  Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia. , 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[5]  D. Beeson,et al.  The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies , 2019, Current opinion in neurology.

[6]  M. Milone,et al.  Congenital myopathies in the adult neuromuscular clinic , 2019, Neurology: Genetics.

[7]  M. Milone,et al.  The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms , 2019, Front. Neurol..

[8]  J. Finsterer.  Congenital myasthenic syndromes , 2019, Orphanet Journal of Rare Diseases.

[9]  Paolo Missier,et al.  Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome , 2019, Emerging topics in life sciences.

[10]  V. Juel.  Clinical neurophysiology of neuromuscular junction disease. , 2019, Handbook of clinical neurology.

[11]  Emmanuel Fournier,et al.  Clinical electrophysiology of muscle diseases and episodic muscle disorders. , 2019, Handbook of Clinical Neurology.

[12]  V. Juel.  Single fiber electromyography. , 2019, Handbook of clinical neurology.

[13]  M. Pasnoor,et al.  Congenital Myasthenic Syndromes: a Clinical and Treatment Approach , 2018, Current Treatment Options in Neurology.

[14]  Jacqueline A Palace,et al.  The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes , 2018, International journal of molecular sciences.

[15]  Jacqueline A Palace,et al.  Therapeutic strategies for congenital myasthenic syndromes , 2018, Annals of the New York Academy of Sciences.

[16]  C. Yiannikas,et al.  Late presentations of congenital myasthenic syndromes: How many do we miss? , 2016, Muscle & nerve.

[17]  F. Rivier,et al.  A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis , 2016, Neurology.

[18]  K. Bushby,et al.  This Work Is Licensed under a Creative Commons Attribution 4.0 International License Mutations in Gmppb Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders with Dystroglycanopathies , 2022 .

[19]  Jacqueline Palace,et al.  Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature , 2014, Neuromuscular Disorders.

[20]  E. Malfatti,et al.  Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. , 2014, Brain : a journal of neurology.

[21]  E. Stålberg,et al.  Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. , 2014, Brain : a journal of neurology.

[22]  E. Fournier,et al.  Is total duration of distal compound muscle action potential better than negative peak duration in the diagnosis of chronic inflammatory demyelinating polyneuropathy? , 2014, Muscle & nerve.

[23]  J. Parr,et al.  How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia , 2014, Archives of Disease in Childhood.

[24]  Ching H. Wang,et al.  Approach to the diagnosis of congenital myopathies , 2014, Neuromuscular Disorders.

[25]  Ching H. Wang,et al.  Diagnostic approach to the congenital muscular dystrophies , 2014, Neuromuscular Disorders.

[26]  B. Eymard,et al.  Congenital myasthenic syndromes: an update , 2013, Current opinion in neurology.

[27]  J. Dowling,et al.  Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy , 2013, Journal of Molecular Medicine.

[28]  B. Eymard,et al.  Congenital myasthenic syndromes , 2004, Handbook of clinical neurology.

[29]  F. Muntoni,et al.  Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies , 2009, Neuromuscular Disorders.

[30]  N. Romero,et al.  Centronuclear myopathies. , 2013, Seminars in pediatric neurology.

[31]  K. Flanigan,et al.  Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy , 2010, Neuromuscular Disorders.

[32]  Y. Benjamini,et al.  Controlling the false discovery rate: a practical and powerful approach to multiple testing , 1995 .

[33]  C. C. Taylor,et al.  Multivariate Analysis of Variance and Repeated Measures: A practical approach for behavioural scientists , 1988 .