Author/Creator: Lara, Marian - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Lara, Marian

1. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Issue 1 (28th January 2018)

Authors:: Maselli, Ricardo A.; Arredondo, Juan; Vázquez, Jessica; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Lara, Marian; Ng, Fiona; Lo, Victoria Lee; Pytel, Peter; McDonald, Craig M.
Journal:: Annals of the New York Academy of Sciences
Issue:: Volume 1413:Issue 1(2018)
Page Start:: 119
Record Type:: Journal Article
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2. Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype–Phenotype Correlations. Issue 9 (24th July 2015)

Authors:: Arredondo, Juan; Lara, Marian; Gospe, Sídney M.; Mazia, Claudio G.; Vaccarezza, Maria; Garcia‐Erro, Marcela; Bowe, Constance M.; Chang, Celia H.; Mezei, Michelle M.; Maselli, Ricardo A.
Journal:: Human mutation
Issue:: Volume 36:Issue 9(2015:Sep.)
Page Start:: 881
Record Type:: Journal Article
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3. Defective fast inactivation recovery of Nav1.4 in congenital myasthenic syndrome. Issue 5 (27th March 2015)

Authors:: Arnold, W. David; Feldman, Daniel H.; Ramirez, Sandra; He, Liuyuan; Kassar, Darine; Quick, Adam; Klassen, Tara L.; Lara, Marian; Nguyen, Joanna; Kissel, John T.; Lossin, Christoph; Maselli, Ricardo A.
Journal:: Annals of neurology
Issue:: Volume 77:Issue 5(2015:May)
Page Start:: 840
Record Type:: Journal Article
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4. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Issue 8 (25th May 2017)

Authors:: Maselli, Ricardo A.; Arredondo, Juan; Vázquez, Jessica; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Lara, Marian; Ng, Fiona; Lo, Victoria L.; Pytel, Peter; McDonald, Craig M.
Journal:: American journal of medical genetics
Issue:: Volume 173:Issue 8(2017)
Page Start:: 2240
Record Type:: Journal Article
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5. Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Issue 3 (14th February 2018)

Authors:: Maselli, Ricardo A.; Vázquez, Jessica; Schrumpf, Leah; Arredondo, Juan; Lara, Marian; Strober, Jonathan B.; Pytel, Peter; Wollmann, Robert L.; Ferns, Michael
Journal:: Molecular genetics & genomic medicine
Issue:: Volume 6:Issue 3(2018)
Page Start:: 434
Record Type:: Journal Article
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