Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency

HuR Mediates Changes in the Stability of AChR  -Subunit mRNAs after Skeletal Muscle Denervation

(2015) O. R. Joassard et al.   JOURNAL OF NEUROSCIENCE

β-Adrenergic modulation of skeletal muscle contraction: key role of excitation-contraction coupling

(2015) Simeon P. Cairns et al.   JOURNAL OF PHYSIOLOGY-LONDON

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

(2015) Andrew G Engel et al.   LANCET NEUROLOGY

Absence of  - and  -dystroglycan is associated with Walker-Warburg syndrome

(2015) M. Riemersma et al.   NEUROLOGY

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

(2015) Yiran Guo et al.   NEUROMUSCULAR DISORDERS

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

(2014) Sophie Nicole et al.   BRAIN

Mitochondrial myopathies in adults and children

(2014) Robert D.S. Pitceathly et al.   CURRENT OPINION IN NEUROLOGY

Terminal Schwann Cells Participate in Neuromuscular Synapse Remodeling during Reinnervation following Nerve Injury

(2014) H. Kang et al.   JOURNAL OF NEUROSCIENCE

Understanding the Process of Fibrosis in Duchenne Muscular Dystrophy

(2014) Yacine Kharraz et al.   Biomed Research International

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

Muscle type and fiber type specificity in muscle wasting

(2013) Stefano Ciciliot et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

(2013) Stéphanie Bauché et al.   NEUROMUSCULAR DISORDERS

Nuclear positioning in muscle development and disease

(2013) Eric S. Folker et al.   Frontiers in Physiology

Molecular Mechanisms and Treatment Options for Muscle Wasting Diseases

(2011) Markus A. Rüegg et al.   Annual Review of Pharmacology and Toxicology

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

(2011) I. Wargon et al.   NEUROMUSCULAR DISORDERS

Fiber Types in Mammalian Skeletal Muscles

(2011) Stefano Schiaffino et al.   PHYSIOLOGICAL REVIEWS

Cholinesterases regulation in the absence of ColQ

(2010) Séverine M. Sigoillot et al.   CHEMICO-BIOLOGICAL INTERACTIONS

Myasthenia and related disorders of the neuromuscular junction

(2010) J. Spillane et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ColQ Controls Postsynaptic Differentiation at the Neuromuscular Junction

(2010) S. M. Sigoillot et al.   JOURNAL OF NEUROSCIENCE

Ephedrine treatment in congenital myasthenic syndrome due to mutations in DOK7

(2010) D. Lashley et al.   NEUROLOGY

AREsite: a database for the comprehensive investigation of AU-rich elements

(2010) A. R. Gruber et al.   NUCLEIC ACIDS RESEARCH

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

(2008) Violeta Mihaylova et al.   BRAIN

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia

(2008) Morgane Stum et al.   HUMAN MOLECULAR GENETICS