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American Journal of Medical Genetics|February 24, 2001
Family and molecular data for a fine analysis of age at onset in Huntington diseaseF Squitieri, G Sabbadini, P Mandich, et al.Annals of Neurology|May 13, 1999
Congenital hypomyelination due to myelin protein zero Q215X mutationP Mandich, G L Mancardi, A Varese, et al.Journal of Neural Transmission (Vienna, Austria : 1996)|May 9, 2001
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patientsS Pigullo, E Di Maria, R Marchese, et al.Neurobiology of Disease|August 9, 2001
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoterM Musso, P Balestra, E Bellone, et al.The Pharmacogenomics Journal|July 23, 2014
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetesR Artuso, A Provenzano, B Mazzinghi, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 7, 2001
Clinical and genetic study of essential tremor in the Italian populationG Abbruzzese, S Pigullo, E Di Maria, et al.Annals of Neurology|March 15, 2000
Corticobasal degeneration shares a common genetic background with progressive supranuclear palsyE Di Maria, M Tabaton, T Vigo, et al.Neuromuscular Disorders : NMD|November 4, 2015
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical courseI Pezzini, A Geroldi, S Capponi, et al.Nature Genetics|May 10, 2000
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2A Bolino, M Muglia, F L Conforti, et al.Genomics|February 16, 2000
Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22A Bolino, E R Levy, M Muglia, et al.Pageof 6