Ricardo A Maselli

5PUBLICATIONS
1CO-AUTHORS
Neurology and neuromuscular diseasesCellular nervous systemMolecular targetsGene mapping
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Publications (5)

|Jul 01, 2026
Presynaptic Congenital Myasthenic Syndromes.

|Feb 01, 2024
Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice.

Cameron V Lin, Clementine A D Thomas, Thanh L Huynh

|Apr 07, 2020
Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence.

Ricardo A Maselli, Hélio van der Linden, Michael Ferns

|Feb 15, 2018
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A.

Ricardo A Maselli, Jessica Vázquez, Leah Schrumpf

|May 26, 2017
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

Ricardo A Maselli, Juan Arredondo, Jessica Vázquez

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Frequent Collaborators

1 joint publications

Jessica X Chong