Ricardo A. Maselli

University of California, Davis — United States

Medicine · Health Sciences

36h-index3.4kcitations120works1.32yr avg
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Research Topics

Myasthenia Gravis and Thymoma(47), Cellular transport and secretion(25), Ion channel regulation and function(22), Neurological disorders and treatments(17), Botulinum Toxin and Related Neurological Disorders(15)

Publications119 total

Electrodiagnostic Evaluation of Congenital Myasthenic Syndromes
Muscle & Nerve·2025
Effective Treatment of Colq-Deficient Mice with Adeno-Associated Virus Type Rh74-Mediated Gene Therapy
Human Gene Therapy·2025
Congenital myasthenic syndromes
International review of neurobiology·2025· 2 cited
<i>RAPSN</i> ‐Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position
Case Reports in Genetics·2025Open Access
Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases
BMC Medical Genomics·2024Open Access
Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions
JCI Insight·2024· 3 citedOpen Access
Adeno-Associated Virus Type 9-Mediated Gene Therapy of Choline Acetyltransferase-Deficient Mice
Human Gene Therapy·2024· 4 cited
Congenital Myasthenic Syndromes
RRNMF Neuromuscular Journal·2023Open Access
Intravenous immunoglobulin is safe and effective in controlling pre-existing paraneoplastic neuromuscular diseases in cancer patients treated with immune checkpoint inhibitors: two case reports and literature review
Frontiers in Oncology·2023· 4 citedOpen Access
Dominant and recessive congenital myasthenic syndromes caused by <i>SYT2</i> mutations
Muscle & Nerve·2021· 13 cited
Recessive Congenital Myasthenic Syndrome Caused by a Homozygous Mutation in SYT2 Altering a Highly Conserved C-terminal Amino Acid Sequence (962)
Neurology·2020· 2 cited
Recessive congenital myasthenic syndrome caused by a homozygous mutation in <scp><i>SYT2</i></scp> altering a highly conserved C‐terminal amino acid sequence
American Journal of Medical Genetics Part A·2020· 20 cited
Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations
Journal of Clinical Neuromuscular Disease·2019· 2 cited
Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4
Human Molecular Genetics·2019· 9 citedOpen Access
Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in <i><scp>RPH</scp>3A</i>
Molecular Genetics & Genomic Medicine·2018· 16 citedOpen Access
A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in <i>LAMA5</i>
Annals of the New York Academy of Sciences·2018· 10 cited
Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
European Journal of Translational Myology·2017· 18 citedOpen Access
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in <i>LAMA5</i> combines myopia, facial tics, and failure of neuromuscular transmission
American Journal of Medical Genetics Part A·2017· 36 citedOpen Access
Effect of 3,4‐diaminopyridine at the murine neuromuscular junction
Muscle & Nerve·2016· 12 cited
Autism in a case of congenital myasthenic syndrome
Clinical Case Reports and Reviews·2016· 1 citedOpen Access
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Frequent Co-authors

Robert L. Wollmann(17), David P. Richman(10), Christopher M. Gómez(9), Juan Arredondo(8), Mark Agius(6), Constance M. Bowe(5), Marian Lara(5), William G. Ellis(4), Jonathan B. Jaspan(4), Betty Soliven(4), Craig M. McDonald(4), Raymond P. Roos(3), Jarae J. Ng(3), Órla Cagney(3), José A. Lasalde(3), Shiori Tamamizu(3), Jean‐Paul Spire(3), Barry G.W. Arnason(3), Sídney M. Gospe(3), Raúl N. Mandler(3)