Showing results (11-20 of 66) with videos related to

Sort By:
Pageof 7
Case Reports in Neurology|February 17, 2015
Very late-onset friedreich ataxia with laryngeal dystoniaSilvia Rota, Eleonora Marchina, Alice Todeschini, et al.
Orphanet Journal of Rare Diseases|May 16, 2024
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studiesDaniele Sala, Silvia Marchet, Lorenzo Nanetti, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 11, 2019
Late-onset Huntington's disease with 40-42 CAG expansionElisa Capiluppi, Luca Romano, Paola Rebora, et al.
Brain Topography|October 28, 2016
Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic PatientsAnna Nigri, Elisa Visani, Nicola Bertolino, et al.
American Journal of Medical Genetics. Part A|August 23, 2019
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutationsMarta Gatti, Stefania Magri, Lorenzo Nanetti, et al.
Frontiers in Pharmacology|April 3, 2024
Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activityMario Fichera, Lorenzo Nanetti, Alessia Monelli, et al.
Neurobiology of Aging|March 20, 2012
ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counselingCinzia Gellera, Nicola Ticozzi, Viviana Pensato, et al.
Neuroscience Letters|May 2, 2018
Multiple system atrophy and CAG repeat length: A genetic screening of polyglutamine disease genes in Italian patientsAlessia Mongelli, Lidia Sarro, Elena Rizzo, et al.
Neuromuscular Disorders : NMD|October 19, 2010
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, Claudia Ciano, Ettore Salsano, et al.
Neuroreport|August 31, 2011
Choice-option evaluation is preserved in early Huntington and Parkinson's diseaseLudovico Minati, Sylvie Piacentini, Francesca Ferrè, et al.
Pageof 7