Researcher Profile

Alejandro Horga

🏛 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

317

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article The American Journal of Human Genetics Aug 01, 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole · Stephanie Efthymiou · Emer O’Connor · Marisa I. Mendes +88 more

10.1016/j.ajhg.2020.06.016 54 citations

Open Access Journal Article Brain Feb 01, 2020

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion