Congenital myasthenic syndromes

Congenital Myasthenic Syndromes in 2018

(2018) Andrew G. Engel   Current Neurology and Neuroscience Reports

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

(2018) Pedro Rodríguez Cruz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sleep in infants with congenital myasthenic syndromes

(2017) Serena Caggiano et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction

(2017) Kinji Ohno et al.   JOURNAL OF NEUROCHEMISTRY

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

(2017) Stéphanie Bauché et al.   JOURNAL OF NEUROLOGY

Decrement with high frequency repetitive nerve stimulation in a RAPSN congenital myasthenic syndrome

(2017) Samantha J. LoRusso et al.   MUSCLE & NERVE

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy

(2017) Federica Montagnese et al.   MUSCLE & NERVE

Early and lethal neurodegeneration with myasthenic and myopathic features

(2017) David C. Schorling et al.   NEUROLOGY

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

(2017) Adi Aran et al.   NEUROLOGY

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

(2017) Sharon Aharoni et al.   NEUROMUSCULAR DISORDERS

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

(2017) Sushan Luo et al.   NEUROMUSCULAR DISORDERS

Mechanistic insights into neurotransmitter release and presynaptic plasticity from the crystal structure of Munc13-1 C1C2BMUN

(2017) Junjie Xu et al.   eLife

Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

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

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome

(2017) Mallory C. Shields et al.   PLoS One

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

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

Clinical and genetic basis of congenital myasthenic syndromes

(2016) Paulo Victor Sgobbi de Souza et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

(2016) Ariana Kariminejad et al.   BMC GENETICS

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report

(2016) Thashi Chang et al.   BMC Neurology

Identification of mutations in theMYO9Agene in patients with congenital myasthenic syndrome

(2016) Emily O’Connor et al.   BRAIN

Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

(2016) Osorio Abath Neto et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review

(2016) Xinghua Luan et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

(2016) Ching-Wan Lam et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating

(2016) Xin-Ming Shen et al.   HUMAN MUTATION

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

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

Association of the Laminin, Alpha 5 (LAMA5) rs4925386 with height and longevity in an elderly population from Southern Italy

(2016) Maria De Luca et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Congenital myasthenic syndrome due to novelCHATmutations in an ethnic kadazandusun family

(2016) Joo-San Tan et al.   MUSCLE & NERVE

Rapsyn congenital myasthenic syndrome worsened by fluoxetine

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

Muscle magnetic resonance imaging in congenital myasthenic syndromes

(2016) Sarah Finlayson et al.   MUSCLE & NERVE

Variants inSLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome

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

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

(2016) D. Natera-de Benito et al.   NEUROMUSCULAR DISORDERS

Effective Treatment With Albuterol in DOK7 Congenital Myasthenic Syndrome in Children

(2016) Chang-Yong Tsao   PEDIATRIC NEUROLOGY

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

(2015) Clare V. Logan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome

(2015) W. David Arnold et al.   ANNALS OF NEUROLOGY

Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes

(2015) Shoin Tei et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

(2015) Katsiaryna Belaya et al.   BRAIN

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

(2015) M. Dusl et al.   HUMAN MOLECULAR GENETICS

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

(2015) Braden S. Jensen et al.   HUMAN MUTATION

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

(2015) Andrew G Engel et al.   LANCET NEUROLOGY

A severe congenital myasthenic syndrome with “dropped head” caused by novelMUSKmutations

(2015) Miriam L. Giarrana et al.   MUSCLE & NERVE

Two cases of congenital myasthenic syndrome with vocal cord paralysis

(2015) R. Al-Shahoumi et al.   NEUROLOGY

Electrophysiologic features ofSYT2mutations causing a treatable neuromuscular syndrome

(2015) Roger G. Whittaker et al.   NEUROLOGY

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis

(2015) Karima Habbout et al.   NEUROLOGY

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

(2015) Yiran Guo et al.   NEUROMUSCULAR DISORDERS

Congenital Myasthenic Syndrome caused by mutations in DPAGT

(2015) Andrea Klein et al.   NEUROMUSCULAR DISORDERS

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

(2015) Duygu Selcen et al.   JAMA Neurology

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

(2014) David N. Herrmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia

(2014) J. R. Parr et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

(2014) Sophie Nicole et al.   BRAIN

Inherited disorders of the neuromuscular junction: an update

(2014) Pedro M. Rodríguez Cruz et al.   JOURNAL OF 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

Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

(2014) Pedro M. Rodríguez Cruz et al.   NEUROMUSCULAR DISORDERS

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

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

Clinical and Molecular Analysis of a Novel COLQ Missense Mutation Causing Congenital Myasthenic Syndrome in a Syrian Family

(2014) Hussein N. Matlik et al.   PEDIATRIC NEUROLOGY

Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis

(2013) Güntülü Sare Duran et al.   ACTA NEUROLOGICA BELGICA

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

Exome sequencing detection of two untranslatedGFPT1mutations in a family with limb-girdle myasthenia

(2013) R.A. Maselli et al.   CLINICAL GENETICS

Mesdc2 plays a key role in cell-surface expression of Lrp4 and postsynaptic specialization in myotubes

(2013) Taisuke Hoshi et al.   FEBS LETTERS

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina

(2013) Juan Arredondo et al.   HUMAN GENETICS

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

(2013) Katarzyna Zoltowska et al.   HUMAN MOLECULAR GENETICS

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

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK

(2013) Lorenzo Maggi et al.   JOURNAL OF NEUROLOGY

Clinical features of congenital myasthenic syndrome due to mutations inDPAGT1

(2013) Sarah Finlayson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1

(2013) Keivan Basiri et al.   NEUROMUSCULAR DISORDERS

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

(2013) Constanze Gallenmüller et al.   NEUROMUSCULAR DISORDERS

Syndromes myasthéniques congénitaux : difficultés diagnostiques, évolution et pronostic, thérapeutique L’expérience du réseau national « Syndromes Myasthéniques Congénitaux »

(2013) B. Eymard et al.   REVUE NEUROLOGIQUE

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

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

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance

(2012) Richard Webster et al.   BRAIN

Pregnancy in congenital myasthenic syndrome

(2012) L. Servais et al.   JOURNAL OF NEUROLOGY

Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations

(2012) So-Young Huh et al.   MUSCLE & NERVE

Highly fatal fast-channel syndrome caused by AChR   subunit mutation at the agonist binding site

(2012) X.-M. Shen et al.   NEUROLOGY

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

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

Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia

(2011) Andrea Gentili et al.   EUROPEAN JOURNAL OF ANAESTHESIOLOGY

A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

(2011) Amina Chaouch et al.   JOURNAL OF NEUROLOGY

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

(2011) Velina Guergueltcheva et al.   JOURNAL OF NEUROLOGY

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

(2011) Menachem Sadeh et al.   MUSCLE & NERVE

Myasthenic syndrome caused by plectinopathy

(2011) D. Selcen et al.   NEUROLOGY

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

(2011) I. Wargon et al.   NEUROMUSCULAR DISORDERS

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

(2010) RA Maselli et al.   CLINICAL GENETICS

Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations

(2010) Wai-Lan Yeung et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction

(2010) Ricardo A. Maselli et al.   HUMAN MOLECULAR GENETICS

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 Myasthenic Syndrome Due to Homozygous CHRNE Mutations: Report of Patients in Arabia

(2010) Mustafa A Salih et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes

(2010) Raffaella Brugnoni et al.   JOURNAL OF NEUROLOGY

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil

(2010) V. Mihaylova et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The Cytoplasmic Adaptor Protein Dok7 Activates the Receptor Tyrosine Kinase MuSK via Dimerization

(2010) Elisa Bergamin et al.   MOLECULAR CELL

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

(2010) D. Lashley et al.   NEUROLOGY

DOK7 mutations presenting as a proximal myopathy in French Canadians

(2010) Myriam Srour et al.   NEUROMUSCULAR DISORDERS

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

(2010) Katharine Forrest et al.   NEUROMUSCULAR DISORDERS

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

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

Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

(2009) Ulrike Schara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

(2009) R A Maselli et al.   JOURNAL OF MEDICAL GENETICS

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

(2009) A. Ben Ammar et al.   JOURNAL OF NEUROLOGY

AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands

(2009) Catharina G. Faber et al.   JOURNAL OF NEUROLOGY

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

(2009) M. Milone et al.   NEUROLOGY

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

(2009) U. Schara et al.   NEUROMUSCULAR DISORDERS

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

(2008) Anne Michalk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

(2008) Violeta Mihaylova et al.   BRAIN

Lrp4 Is a Receptor for Agrin and Forms a Complex with MuSK

(2008) Natalie Kim et al.   CELL

Congenital myasthenia–related AChR δ subunit mutation interferes with intersubunit communication essential for channel gating

(2008) Xin-Ming Shen et al.   JOURNAL OF CLINICAL INVESTIGATION

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

(2008) P. Richard et al.   NEUROLOGY