Undergraduate School

Medical Sciences, Buenos Aires University School of Medicine, Buenos Aires, Argentina

Medical School

M.D., Buenos Aires University School of Medicine, Buenos Aires, Argentina 1973

Internship

Medicine, Thomason General Hospital/Texas Tech University, El Paso TX 1974-1975

Residency

Neurology and Neuropathology, Kingston General Hospital/Queen's University, Kingston, Ontario, Canada 1979-1982

Fellowship

Neurology/Clinical Neurophysiology, University of Chicago Medical Center, Chicago IL 1983-1987

Best Doctors in America, 2003-2019, 2020

Invited lecturer on congenital myasthenic syndromes and ALS at Pitie-Salpetriere Hospital, Paris. France, 2007

Guess of Honor of the Annual Fund Raising Party of the Myasthenia Gravis Foundation of California, 2005

Selected as one of Best Doctors in America, 2001

Director Clinical Neurophysiology Fellowship Program, 2020

Maselli RA, van der Linden H Jr, Ferns M. Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. Am J Med Genet A. 2020 Jul;182(7):1744-1749. doi:10.1002/ajmg.a.61579. Epub 2020 Apr 6. PMID:32250532.

Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi:10.1002/ajmg.a.38291. Epub 2017 May 25. PMID:28544784.

Maselli RA, Ng JJ, Anderson JA, Cagney O, Arredondo J, Williams C, Wessel HB, Abdel-Hamid H, Wollmann RL. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet. 2009 Mar;46(3):203-8. doi:10.1136/jmg.2008.063693. PMID:19251977.

Dunne V, Maselli RA. Common founder effect of rapsyn N88K studied using intragenic markers. J Hum Genet. 2004;49(7):366-369. doi:10.1007/s10038-004-0159-y. Epub 2004 Jun 8. PMID:15252722.

Vohra BP, Groshong JS, Maselli RA, Verity MA, Wollmann RL, Gomez CM. Focal caspase activation underlies the endplate myopathy in slow-channel syndrome. Ann Neurol. 2004 Mar;55(3):347-52. doi:10.1002/ana.10823. PMID:14991812.

Maselli RA, Wan J, Dunne V, Graves M, Baloh RW, Wollmann RL, Jen J. Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2. Neurology. 2003 Dec 23;61(12):1743-8. doi:10.1212/01.wnl.0000099748.41130.9a. PMID:14694040.

Maselli RA, Dunne V, Pascual-Pascual SI, Bowe C, Agius M, Frank R, Wollmann RL. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Muscle Nerve. 2003 Sep;28(3):293-301. doi:10.1002/mus.10433. PMID:12929188.

Maselli RA, Books W, Dunne V. Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission. Ann N Y Acad Sci. 2003 Sep;998:18-28. doi:10.1196/annals.1254.004. PMID:14592859.

Maselli RA, Chen D, Mo D, Bowe C, Fenton G, Wollmann RL. Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis. Muscle Nerve. 2003 Feb;27(2):180-7. doi:10.1002/mus.10300. PMID:12548525.

Dunne V, Maselli RA. Identification of pathogenic mutations in the human rapsyn gene. J Hum Genet. 2003;48(4):204-7. doi:10.1007/s10038-003-0005-7. Epub 2003 Mar 5. PMID:12730725.

Añor S, Lipsitz D, Williams DC, Tripp L, Willits N, Maselli R, LeCouteur RA. Evaluation of jitter by stimulated single-fiber electromyography in normal dogs. J Vet Intern Med. 2003 Jul-Aug;17(4):545-50. doi:10.1111/j.1939-1676.2003.tb02476.x. PMID:12892306.