Ricardo A Maselli, MD

Professor

  • 2554 Citations
  • 31 h-Index
1983 …2019
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Fingerprint Dive into the research topics where Ricardo A Maselli is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Congenital Myasthenic Syndromes Medicine & Life Sciences
Neuromuscular Junction Medicine & Life Sciences
Muscles Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cholinergic Receptors Medicine & Life Sciences
Electromyography Medicine & Life Sciences
Botulism Medicine & Life Sciences
Myasthenia Gravis Medicine & Life Sciences

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Projects 2010 2015

Congenital Myasthenic Syndromes
Neuromuscular Junction
Genes
Cholinergic Receptors
Muscles

Research Output 1983 2019

  • 2554 Citations
  • 31 h-Index
  • 87 Article
  • 2 Letter
  • 1 Editorial
1 Citation (Scopus)
Open Access
Agrin
Lipoprotein Receptors
Heparan Sulfate Proteoglycans
Protein Isoforms
Mutation

Phenotypic Differences in 2 Unrelated Cases Carrying Identical DOK7 Mutations

Bissay, V. & Maselli, R. A., Sep 1 2019, In : Journal of clinical neuromuscular disease. 21, 1, p. 30-34 5 p.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Extremities
Mutation
Genes
Muscle Weakness
3 Citations (Scopus)

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5

Maselli, R. A., Arredondo, J., Vázquez, J., Chong, J. X., Bamshad, M. J., Nickerson, D. A., Lara, M., Ng, F., Lo, V. L., Pytel, P. & McDonald, C. M., Jan 1 2018, (Accepted/In press) In : Annals of the New York Academy of Sciences.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Laminin
Lambert-Eaton Myasthenic Syndrome
Defects
Gene encoding

Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A

Maselli, R. A., Vázquez, J., Schrumpf, L., Arredondo, J., Lara, M., Strober, J. B., Pytel, P., Wollmann, R. L. & Ferns, M. J., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Synaptic Vesicles
Homeostasis
Nervous System Diseases
Synaptic Transmission
13 Citations (Scopus)

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

University of Washington Center for Mendelian Genomics, Aug 1 2017, In : American Journal of Medical Genetics, Part A. 173, 8, p. 2240-2245 6 p.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Tics
Myopia
Laminin
Genes