Researcher Profile

Pedro J. Tomaselli

🏛 From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical...

Publications

561

Citations

Co-Authors

Active Years

Publications

Journal Article Nature Genetics Mar 29, 2019

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Andrea Cortese · Roberto Simone · Roisin Sullivan · Jana Vandrovcova +26 more

10.1038/s41588-019-0372-4 505 citations

Journal Article Neurology Apr 11, 2017

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT