The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

(2018) David Owen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital myasthenic syndromes with acetylcholinesterase deficiency, the pathophysiological mechanisms

(2018) Claire Legay   Annals of the New York Academy of Sciences

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

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

(2017) Adi Aran et al.   NEUROLOGY

Molecular Mechanisms of Synaptic Vesicle Priming by Munc13 and Munc18

(2017) Ying Lai et al.   NEURON

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

(2017) Jianying Xi et al.   Orphanet Journal of Rare Diseases

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

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

Identification of mutations in theMYO9Agene in patients with congenital myasthenic syndrome

(2016) Emily O’Connor et al.   BRAIN

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

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

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

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

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

(2015) Katsiaryna Belaya et al.   BRAIN

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

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

Extracellular matrix assembly: a multiscale deconstruction

(2014) Janna K. Mouw et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Autoantibodies to Agrin in Myasthenia Gravis Patients

(2014) Bin Zhang et al.   PLoS One

Pharmacologic Treatment of Downstream of Tyrosine Kinase 7 Congenital Myasthenic Syndrome

(2014) Nanna Witting et al.   JAMA Neurology

Congenital myasthenic syndromes due to mutations inALG2andALG14

(2013) Judith Cossins et al.   BRAIN

Selective inhibition of caspases in skeletal muscle reverses the apoptotic synaptic degeneration in slow-channel myasthenic syndrome

(2013) H. Zhu et al.   HUMAN MOLECULAR 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

Clinical features of congenital myasthenic syndrome due to mutations inDPAGT1

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

Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation

(2013) Paulo J. Lorenzoni et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity

(2013) D. Selcen et al.   NEUROLOGY

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

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

(2013) Asma Ben Ammar et al.   PLoS One

Structure and superorganization of acetylcholine receptor-rapsyn complexes

(2013) B. Zuber et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Role of MuSK in Synapse Formation and Neuromuscular Disease

(2013) S. J. Burden et al.   Cold Spring Harbor Perspectives in Biology

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

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

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

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome

(2012) Judith Cossins et al.   HUMAN MOLECULAR GENETICS

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

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

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

(2012) Georgina Burke et al.   NEUROMUSCULAR DISORDERS

Agrin and Synaptic Laminin Are Required to Maintain Adult Neuromuscular Junctions

(2012) Melanie A. Samuel et al.   PLoS One

Reconstitution of the Vital Functions of Munc18 and Munc13 in Neurotransmitter Release

(2012) C. Ma et al.   SCIENCE

Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction

(2012) Lei Shi et al.   TRENDS IN NEUROSCIENCES

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

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

Principles of Unconventional Myosin Function and Targeting

(2011) M. Amanda Hartman et al.   Annual Review of Cell and Developmental Biology

Muscular dystrophies due to glycosylation defects

(2011) Francesco Muntoni et al.   CURRENT OPINION IN NEUROLOGY

Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis

(2011) J. Lu et al.   GLYCOBIOLOGY

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin

(2011) Ricardo A. Maselli et al.   HUMAN GENETICS

Functional consequences and structural interpretation of mutations of human choline acetyltransferase

(2011) Xin-Ming Shen et al.   HUMAN MUTATION

Agrin Binds to the N-terminal Region of Lrp4 Protein and Stimulates Association between Lrp4 and the First Immunoglobulin-like Domain in Muscle-specific Kinase (MuSK)

(2011) Wei Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2011) Amina Chaouch et al.   JOURNAL OF NEUROLOGY

Anti-LRP4 autoantibodies in AChR- and MuSK-antibody-negative myasthenia gravis

(2011) Alexandra Pevzner et al.   JOURNAL OF NEUROLOGY

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

(2011) Velina Guergueltcheva et al.   JOURNAL OF NEUROLOGY

The role of Synaptobrevin1/VAMP1 in Ca2+-triggered neurotransmitter release at the mouse neuromuscular junction

(2011) Yun Liu et al.   JOURNAL OF PHYSIOLOGY-LONDON

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

(2011) Teerin Liewluck et al.   MUSCLE & NERVE

Clinical features in a series of fast channel congenital myasthenia syndrome

(2011) Jacqueline Palace et al.   NEUROMUSCULAR DISORDERS

Peptidomics of the Prolyl Peptidases

(2010) Anna Mari Lone et al.   AAPS Journal

To build a synapse: signaling pathways in neuromuscular junction assembly

(2010) H. Wu et al.   DEVELOPMENT

Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L

(2010) P. T. Hallock et al.   GENES & DEVELOPMENT

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

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

Muscle-Derived Collagen XIII Regulates Maturation of the Skeletal Neuromuscular Junction

(2010) A. Latvanlehto et al.   JOURNAL OF NEUROSCIENCE

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

(2010) D. Lashley et al.   NEUROLOGY

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

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

Structure, Expression, and Regulation of UDP-GlcNAc: Dolichol Phosphate GlcNAc-1-Phosphate Transferase (DPAGT1)

(2009) Roger Bretthauer   CURRENT DRUG TARGETS

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

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

(2009) M. Milone et al.   NEUROLOGY

Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

(2008) Julie Vogt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Violeta Mihaylova et al.   BRAIN

IgG1 antibodies to acetylcholine receptors in ‘seronegative’ myasthenia gravis†

(2008) Maria Isabel Leite et al.   BRAIN

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

(2008) Natalie Kim et al.   CELL

The congenital myasthenic syndromes

(2008) Jackie Palace et al.   JOURNAL OF NEUROIMMUNOLOGY

Nidogens—Extracellular matrix linker molecules

(2008) Matthew S.P. HO et al.   MICROSCOPY RESEARCH AND TECHNIQUE

A synaptic nidogen: Developmental regulation and role of nidogen-2 at the neuromuscular junction

(2008) Michael A Fox et al.   Neural Development

Wnt signaling promotes AChR aggregation at the neuromuscular synapse in collaboration with agrin

(2008) J. P. Henriquez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA