Marian Lara

Defective fast inactivation recovery of <scp>N</scp>a_v1.4 in congenital myasthenic syndrome

W. David Arnold, Daniel H. Feldman, Sandra Ramírez‐Clavijo et al. · Annals of Neurology · 2015 · 67 citations · Full text

Life Sciences, Genetics, Physiology +17

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in <i>LAMA5</i> combines myopia, facial tics, and failure of neuromuscular transmission

Ricardo A. Maselli, Juan Arredondo, Jessica Vázquez et al. · American Journal of Medical Genetics Part A · 2017 · 37 citations · Full text

Medicine, Genetics, Neurology +17

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina

Juan Arredondo, Marian Lara, Fiona Ng et al. · Human Genetics · 2013 · 32 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations

Juan Arredondo, Marian Lara, Sídney M. Gospe et al. · Human Mutation · 2015 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Exome sequencing detection of two untranslated <i><scp>GFPT1</scp></i> mutations in a family with limb‐girdle myasthenia

Ricardo A. Maselli, Juan Arredondo, Joanna Nguyen et al. · Clinical Genetics · 2013 · 26 citations

Medicine, Genetics, Molecular Genetics +14