Affiliation: Istituto Nazionale Neurologico Carlo Besta
- SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoproteinLorenzo Nanetti
Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
Orphanet J Rare Dis 8:123. 2013....
- Frontal cortex BOLD signal changes in premanifest Huntington disease: A possible fMRI biomarkerStefania Ferraro
From the Neuroradiology Department S F, F G, F E, A N, M G B, M S, M G, Unit of Genetics of Neurodegenerative and Metabolic Diseases, Clinical Pathology and Medical Genetics L N, F T, S D, C M, and Health Department S P, N B, F G, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy and the Memory and Aging Center M L M, Department of Neurology, University of California San Francisco
Neurology 83:65-72. 2014..To identify a possible functional imaging biomarker sensitive to the earliest neural changes in premanifest Huntington disease (preHD), allowing early therapeutic approaches aimed at preventing or delaying clinical onset...
- Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 geneChiara Marchesi
Unit of Clinic of Central and Peripheral Degenerative Neuropathies, IRCCS Foundation, C Besta Neurological Institute, Milan, Italy
Neuromuscul Disord 21:129-31. 2011..Clinical features, EMG findings, and fast progression were consistent with ALS superimposed on CMT...