original ) (raw )A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5
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Annals of the New York Academy of Sciences, 2018
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Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin ?-2 gene
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Journal of Human Genetics, 2003
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Neuromolecular Medicine, 2018
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Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission
Violeta Mihaylova
Expert Reviews in Molecular Medicine, 2007
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Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission
Florinda Gama
Brain Communications, 2020
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Canki-Klain N, Beroud C, Clarke NF, Kovač I, Chambert S, Guicheney P. The adult phenotype of congenital muscular dystrophy (MDC1A) due to mutation of LAMA2. KONGRESS 2009/WMS. Neuromuscular disorders ; 19 (8-9): 574-575./ c
nina Canki-klain
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Clinical and molecular study in congenital muscular dystrophy with partial laminin ?2 (LAMA2) deficiency
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Human Mutation, 2003
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Impaired Synaptic Development, Maintenance, and Neuromuscular Transmission in LRP4-Related Myasthenia
Xin-ming Shen
JAMA neurology, 2015
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Review Paper: Genetic Basis of Congenital Myasthenic Syndrome: A Review Study A B S T R A C T
Journal of Advanced Medical Sciences and Applied Technologies
2017
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Congenital myasthenic syndromes: genetic defects of the neuromuscular junction
Andrew Engel
Current neurology and neuroscience reports, 2002
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Current status of the congenital myasthenic syndromes
Andrew Engel
Neuromuscular Disorders, 2012
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Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes
Nina Barisic
European Journal of Paediatric Neurology, 2011
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Synaptic basal lamina-associated congenital myasthenic syndromes
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Annals of the New York Academy of Sciences, 2012
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Congenital Myasthenic Syndromes and Myasthenia
Valeria Salutto
Neuromuscular Disorders, 2018
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The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms
Stefan Nicolau
Frontiers in Neurology
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Clinical and molecular characrerization of limb-girle muscular dystrophy due to LAMA2 mutations
Corrado I Angelini
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What Have We Learned from the Congenital Myasthenic Syndromes
Andrew Engel
Journal of Molecular Neuroscience, 2010
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Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain
mustafa m
Human Molecular Genetics, 1997
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Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin α-2 gene
haydee vargas
Journal of Human Genetics, 2003
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Phenotypic clustering of lamin A/C mutations in neuromuscular patients
Simone Bertini , Isabella Mammi
Neurology, 2007
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Congenital myasthenic syndromes: A diverse array of molecular targets
Steven m. M Sine
Journal of Neurocytology, 2003
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Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases
Annick Toutain
Journal of Neuromuscular Diseases, 2015
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LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients
Paula Jorge
Clinical Genetics, 2008
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Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families
Pascale Guicheney
Archives de l'Institut Pasteur de Tunis, 2006
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Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin 2-Chain
Lydia Sorokin
Human Molecular Genetics, 1997
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Congenital myasthenic syndromes: Progress over the past decade
Andrew Engel
Muscle & Nerve, 2003
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The Spectrum of Congenital Myasthenic Syndromes
Andrew Engel
Molecular Neurobiology, 2002
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126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands
H. Lochmuller , David Beeson
Neuromuscular disorders : NMD, 2005
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Unusual Laminin α2 Processing in Myoblasts from a Patient with a Novel Variant of Congenital Muscular Dystrophy
Marcello Villanova
Biochemical and Biophysical Research Communications, 2000
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