Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Augusto Rini"'
Autor:
Francesca Spagnolo, Edoardo Monfrini, Vincenza Pinto, Giovanni Di Maggio, Paolo De Marco, Giacomo P. Comi, Augusto Rini, Alessio Di Fonzo
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 9, Iss , Pp 100205- (2023)
We describe a case of severe adult-onset progressive tremulous cerebellar ataxia with pyramidal signs associated with a rare homozygous truncating pathogenic variant in the SYNE1 gene (p.Arg5371*). This contrasts the initial views on SYNE1-related at
Externí odkaz:
https://doaj.org/article/54fdc9b4ef7645d0a79e1a0e274a0398
Autor:
Edoardo Monfrini, Francesca Spagnolo, Margherita Canesi, Agostino Seresini, Augusto Rini, Bruno Passarella, Marco Percetti, Manuela Seia, Stefano Goldwurm, Viviana Cereda, Giacomo P. Comi, Gianni Pezzoli, Alessio Di Fonzo
Publikováno v:
Parkinsonism & Related Disorders. 94:37-39
VPS13C is a protein-coding gene involved in the regulation of mitochondrial function through the endolysosomal pathway in neurons. Homozygous and compound heterozygous VPS13C mutations are etiologically associated with early-onset Parkinson's disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377d2642320a4ec053a4849a1987d0d5
https://doi.org/10.1016/j.parkreldis.2021.11.031
https://doi.org/10.1016/j.parkreldis.2021.11.031
Autor:
Stig Eriksen, Job van Exel, Frederiksen, Jette L., Helle Hvilsted Nielsen, Oivind Torkildsen, Augusto Rini, Luca Massacesi, Margaret Mondino, Massimiliano Mirabella, Alessandra Lugaresi, Giacomo Lus, Damiano Paolicelli, Luisa Maria Caniatti, Tsai, Jon A., Elio Scarpini
Publikováno v:
University of Southern Denmark
Eriksen, S, van Exel, J, Frederiksen, J L, Nielsen, H H, Torkildsen, O, Rini, A, Massacesi, L, Mondino, M, Mirabella, M, Lugaresi, A, Lus, G, Paolicelli, D, Caniatti, L M, Tsai, J A & Scarpini, E 2020, ' Baseline Patient and Caregiver Characteristics From a Prospective, Noninterventional, Real-World Study (REALITY) on the Effect of Alemtuzumab on Fatigue and Other Patient-and Caregiver-Reported Quality-of-Life Outcomes in Patients With RRMS ', Neurology, vol. 94, no. Suppl. 15, 143 . < https://n.neurology.org/content/94/15_Supplement/143 >
Eriksen, S, van Exel, J, Frederiksen, J L, Nielsen, H H, Torkildsen, O, Rini, A, Massacesi, L, Mondino, M, Mirabella, M, Lugaresi, A, Lus, G, Paolicelli, D, Caniatti, L M, Tsai, J A & Scarpini, E 2020, ' Baseline Patient and Caregiver Characteristics From a Prospective, Noninterventional, Real-World Study (REALITY) on the Effect of Alemtuzumab on Fatigue and Other Patient-and Caregiver-Reported Quality-of-Life Outcomes in Patients With RRMS ', Neurology, vol. 94, no. Suppl. 15, 143 . < https://n.neurology.org/content/94/15_Supplement/143 >
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::27305f554c30f1183588b6b95abac14f
https://portal.findresearcher.sdu.dk/en/publications/4c1d55f8-8fa9-40e6-a112-58d1810a66dc
https://portal.findresearcher.sdu.dk/en/publications/4c1d55f8-8fa9-40e6-a112-58d1810a66dc
