Associated Papers
Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.
Raaz C et al.
Case Reports in Genetics, 2026
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Pugliese A et al.
Journal of Neuromuscular Diseases, 2023
Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.
Luo S et al.
Frontiers in Molecular Neuroscience, 2022
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
Barad M et al.
Ebiomedicine, 2020
Congenital Myasthenic Syndromes in 2018.
Engel AG
Current Neurology and Neuroscience Reports, 2018
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.
Maselli RA et al.
Annals of the New York Academy of Sciences, 2018
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Maselli RA et al.
American Journal of Medical Genetics. Part A, 2017
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