Use of stimulated electromyography in the analysis of the neuromuscular junction in children

New era in genetics of early-onset muscle disease: Breakthroughs and challenges

(2017) Gianina Ravenscroft et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Congenital myasthenic syndromes and myasthenia gravis are challenging diagnoses in neurological practice

(2016) Anamarli Nucci   ARQUIVOS DE NEURO-PSIQUIATRIA

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

The effect of different low-frequency filters on concentric needle jitter in stimulated orbicularis oculi

(2016) Anjla Patel et al.   MUSCLE & NERVE

Determining jitter values in the very young by use of the e-norms methodology

(2016) Matthew C. Pitt et al.   MUSCLE & NERVE

Stimulated jitter analysis for the evaluation of neuromuscular junction disorders in children

(2016) Sumit Verma et al.   MUSCLE & NERVE

Late presentations of congenital myasthenic syndromes: How many do we miss?

(2016) Nidhi Garg et al.   MUSCLE & NERVE

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

(2015) Katsiaryna Belaya et al.   BRAIN

E-Norms

(2015) Joe F. Jabre et al.   JOURNAL OF CLINICAL NEUROPHYSIOLOGY

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

(2015) Andrew G Engel et al.   LANCET NEUROLOGY

Stimulated jitter analysis in the early diagnosis of infant botulism

(2015) Sumit Verma et al.   MUSCLE & NERVE

Congenital myasthenic syndromes and the neuromuscular junction

(2014) Pedro M. Rodríguez Cruz et al.   CURRENT OPINION IN NEUROLOGY

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

(2014) D. Selcen et al.   NEUROLOGY

Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

(2014) Dorota M. Monies et al.   NEUROMUSCULAR DISORDERS

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine

(2014) M.A. Illingworth et al.   NEUROMUSCULAR DISORDERS

Use of Next-Generation Sequencing as a Diagnostic Tool for Congenital Myasthenic Syndrome

(2014) Alvin S. Das et al.   PEDIATRIC NEUROLOGY

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

Congenital myasthenic syndromes

(2013) Daniel Hantaï et al.   CURRENT OPINION IN NEUROLOGY

Identification ofDPAGT1as a new gene in which mutations cause a congenital myasthenic syndrome

(2012) Katsiaryna Belaya et al.   Annals of the New York Academy of Sciences

Electrophysiological and immunological study in myasthenia gravis: Diagnostic sensitivity and correlation

(2011) Rawiphan Witoonpanich et al.   CLINICAL NEUROPHYSIOLOGY

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

(2011) Stephanie A. Robb et al.   NEUROMUSCULAR DISORDERS

Concentric needle jitter on stimulated Orbicularis Oculi in 50 healthy subjects

(2010) João Aris Kouyoumdjian et al.   CLINICAL NEUROPHYSIOLOGY

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome

(2010) Chris G. Jephson et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia

(2010) P. Munot et al.   NEUROMUSCULAR DISORDERS

Infantile onset myofibrillar myopathy due to recessive CRYAB mutations

(2010) Katharine M.L. Forrest et al.   NEUROMUSCULAR DISORDERS

Neurophysiological strategies for the diagnosis of disorders of the neuromuscular junction in children

(2009) Matthew Pitt   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Jitter recordings with concentric needle electrodes

(2009) Erik V. Stålberg et al.   MUSCLE & NERVE

Workshop on the use of stimulation single fibre electromyography for the diagnosis of myasthenic syndromes in children held in the Institute of Child Health and Great Ormond Street Hospital for Children in London on April 24th, 2009

(2009) Matthew Pitt   NEUROMUSCULAR DISORDERS

Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

(2008) M. Kinali et al.   JOURNAL OF NEUROIMMUNOLOGY