Ricardo A Maselli

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 4

Top Topics

Genome Wide Analysis

Top Venues

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

Human gene therapy

This page only lists publications with an associated author ORCID identifier.

Publications

Cameron V Lin, Clementine A D Thomas, Thanh L Huynh, David T Wei, Jaime N Young, Anahid S Aivazian, Abigail McInnes, Jixiang Xu, Sarah E Cook, Jessica Vazquez, Ricardo A Maselli
Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice. Human gene therapy 35 (3-4) (2024)
Ricardo A Maselli, Hélio van der Linden, Michael Ferns
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. American journal of medical genetics. Part A 182 (7) (2020)
Ricardo A Maselli, Jessica Vázquez, Leah Schrumpf, Juan Arredondo, Marian Lara, Jonathan B Strober, Peter Pytel, Robert L Wollmann, Michael Ferns
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Molecular genetics & genomic medicine 6 (3) (2018)
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica Xiao-Ling Chong, null null, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. American journal of medical genetics. Part A 173 (8) (2017)