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Marian Lara · SciRah

Researcher profile · Semantic Scholar

Marian Lara

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Marian Lara — researcher profile on SciRah

h-index: 8
Works: 11
Citations: 229

Most-cited papers

Defective Fast Inactivation Recovery of Nav1.4 in Congenital Myasthenic Syndrome
W. Arnold, Daniel H. Feldman, Sandra Ramirez, Liuyuan He +8 more
2015Annals of Neurology64 citations Open access
Semantic Scholar
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission
Ricardo A. Maselli, J. Arredondo, J. Vázquez, Jessica X. Chong +7 more
2017American Journal of Medical Genetics. Part A37 citations Open access
Semantic Scholar
COOH-Terminal Collagen Q (COLQ) Mutants Causing Human Deficiency of Endplate Acetylcholinesterase Impair the Interaction of ColQ with Proteins of the Basal Lamina
J. Arredondo, Marian Lara, Fiona Ng, Danielle A. Gochez +4 more
2013Human Genetics31 citations Open access
Semantic Scholar
Choline acetyltransferase mutations causing congenital myasthenic syndrome: molecular findings and genotype-phenotype correlations
J. Arredondo, Marian Lara, S. Gospe, C. Mazia +6 more
2015Human Mutation29 citations Open access
Semantic Scholar
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb‐girdle myasthenia
Ricardo A. Maselli, Juan Arredondo, Joanna Nguyen, Marian Lara +8 more
2014Clinical Genetics27 citations
Semantic Scholar
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A
Ricardo A. Maselli, J. Vázquez, Leah Schrumpf, J. Arredondo +5 more
2018Molecular Genetics & Genomic Medicine16 citations Open access
Semantic Scholar
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
J. Bevilacqua, Marian Lara, Jorge Díaz, M. Campero +2 more
2017European Journal of Translational Myology16 citations Open access
Semantic Scholar
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5
Ricardo A. Maselli, J. Arredondo, J. Vázquez, J. X. Chong +7 more
2018Annals of the New York Academy of Sciences10 citations Open access
Semantic Scholar
Congenital Myasthenic Syndrome due to DOK7 Mutations in a Family from Chile (P2.014)
J. Bevilacqua, Marian Lara, J. Díaz, Ricardo A. Maselli
2015Neurology0 citations
Semantic Scholar
Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome (P3.170)
Christoph Lossin, W. Arnold, Daniel H. Feldman, Sandra Ramirez +8 more
2015Neurology0 citations
Semantic Scholar
English in an Ever-Changing World
Marian Lara
20140 citations
Semantic Scholar

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