Congenital myasthenic syndromes and the neuromuscular junction

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

PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome

(2014) L. Regal 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

Pharmacologic Treatment of Downstream of Tyrosine Kinase 7 Congenital Myasthenic Syndrome

(2014) Nanna Witting et al.   JAMA 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

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

Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK Interaction

(2013) Tomohiko Nakata et al.   HUMAN MUTATION

Trans-Golgi network morphology and sorting is regulated by prolyl-oligopeptidase-like protein PREPL and the AP-1 complex subunit  1A

(2013) K. Radhakrishnan et al.   JOURNAL OF CELL SCIENCE

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy

(2013) Elizabeth M. Gibbs et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

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

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children

(2013) Andrea Klein 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

Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interface

(2013) Richard Webster et al.   NEUROMUSCULAR DISORDERS

HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA

(2013) Mohammad Alinoor Rahman et al.   Scientific Reports

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

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

(2012) Judith Cossins et al.   HUMAN MOLECULAR GENETICS

Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients

(2012) Angela Abicht et al.   HUMAN MUTATION

Rapsyn mediates subsynaptic anchoring of PKA type I and stabilisation of acetylcholine receptor in vivo

(2012) K.-R. Choi et al.   JOURNAL OF CELL SCIENCE

Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating

(2012) Xin-Ming Shen et al.   JOURNAL OF CLINICAL INVESTIGATION

Protein-anchoring Strategy for Delivering Acetylcholinesterase to the Neuromuscular Junction

(2012) Mikako Ito et al.   MOLECULAR THERAPY

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

186th ENMC International Workshop: Congenital myasthenic syndromes 24–26 June 2011, Naarden, The Netherlands

(2012) Amina Chaouch et al.   NEUROMUSCULAR DISORDERS

Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutations

(2012) Georgina Burke et al.   NEUROMUSCULAR DISORDERS

Recurrent COLQ Mutation in Congenital Myasthenic Syndrome

(2012) Alev Guven et al.   PEDIATRIC NEUROLOGY

Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect

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

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

(2011) J. Lu et al.   GLYCOBIOLOGY

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

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

(2011) Velina Guergueltcheva et al.   JOURNAL OF NEUROLOGY

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

Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myasthenia

(2011) Teerin Liewluck et al.   NEUROMUSCULAR DISORDERS

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies

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

Clinical features in a series of fast channel congenital myasthenia syndrome

(2011) Jacqueline Palace et al.   NEUROMUSCULAR DISORDERS

Current status of the congenital myasthenic syndromes

(2011) Andrew G. Engel   NEUROMUSCULAR DISORDERS

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

(2011) I. Wargon et al.   NEUROMUSCULAR DISORDERS

Peptidomics of the Prolyl Peptidases

(2010) Anna Mari Lone et al.   AAPS Journal

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

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

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

(2010) D. Lashley et al.   NEUROLOGY

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

(2010) P. Munot et al.   NEUROMUSCULAR DISORDERS

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

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

(2009) V. Mihaylova et al.   NEUROLOGY

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