Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.
Sadakierska-Chudy A et al.
International Urogynecology Journal, 2025
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
Cocanougher BT et al.
Hgg Advances, 2024
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.
De Rose DU et al.
Journal of Personalized Medicine, 2023
Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation.
Jiang L et al.
Pharmacogenomics and Personalized Medicine, 2023
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Rodríguez Cruz PM et al.
Human Mutation, 2020
A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure.
Shen Y et al.
Frontiers in Pediatrics, 2020
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
Obstructive sleep apnoea and hypoventilation in an adult with congenital myasthenic syndrome.
Younas H et al.
Bmj Case Reports, 2018
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen D et al.
American Journal of Medical Genetics. Part A, 2018
Animal Models of the Neuromuscular Junction, Vitally Informative for Understanding Function and the Molecular Mechanisms of Congenital Myasthenic Syndromes.
Webster RG
International Journal of Molecular Sciences, 2018
Genetic basis and phenotypic features of congenital myasthenic syndromes.
Engel AG
Handbook of Clinical Neurology, 2018
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.
Luan X et al.
Clinical Neurology and Neurosurgery, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
McDonell LM et al.
Human Molecular Genetics, 2015
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB et al.
European Journal of Human Genetics : Ejhg, 2015
Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.
Milhem RM et al.
The International Journal of Biochemistry & Cell Biology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
[Congenital myasthenic syndromes; French experience].
Eymard B et al.
Bulletin De L'academie Nationale De Medecine, 2014
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmüller C et al.
Neuromuscular Disorders : Nmd, 2014
Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.
Maggi L et al.
Journal of Neurology, 2013
Congenital myasthenic syndromes: an update.
Hantaï D et al.
Current Opinion in Neurology, 2013
A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.
Ben Ammar A et al.
Plos One, 2013
Congenital myasthenic syndromes.
Eymard B et al.
Handbook of Clinical Neurology, 2013
Development of an efficient method for genotyping at the gd locus in NC/Sgn mice based on PCR-RFLP analysis.
Suto J
The Journal of Veterinary Medical Science, 2012
186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.
Chaouch A et al.
Neuromuscular Disorders : Nmd, 2012
Congenital myasthenic syndromes in 2012.
Engel AG
Current Neurology and Neuroscience Reports, 2012
Current status of the congenital myasthenic syndromes.
Engel AG
Neuromuscular Disorders : Nmd, 2012
Receptor tyrosine kinases: from biology to pathology.
Choura M et al.
Journal of Receptor and Signal Transduction Research, 2011
[Genetic defects and disorders at the neuromuscular junction].
Ohno K
Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011
Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.
Maselli RA et al.
Human Molecular Genetics, 2010
A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions.
Chevessier F et al.
Human Molecular Genetics, 2008
Dok-7/MuSK signaling and a congenital myasthenic syndrome.
Yamanashi Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2008
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS et al.
Expert Reviews in Molecular Medicine, 2007
Clinical features of the DOK7 neuromuscular junction synaptopathy.
Palace J et al.
Brain : a Journal of Neurology, 2007
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.
Chevessier F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands.
Beeson D et al.
Neuromuscular Disorders : Nmd, 2005
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
Chevessier F et al.
Journal De La Societe De Biologie, 2005
MUSK, a new target for mutations causing congenital myasthenic syndrome.
Chevessier F et al.
Human Molecular Genetics, 2004