Articles with public access mandates - Sabrina RavagliaLearn more
Not available anywhere: 2
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia
L Maggi, S Ravaglia, A Farinato, R Brugnoni, C Altamura, P Imbrici, ...
Neurogenetics 18, 219-225, 2017
Mandates: Fondazione Telethon, Italy, Government of Italy
Buprenorphine may be effective for treatment of paramyotonia congenita
S Ravaglia, L Maggi, A Zito, S Arceri, P Gallotti, C Altamura, JF Desaphy, ...
Muscle & Nerve 64 (1), 95-99, 2021
Mandates: Government of Italy
Available somewhere: 21
Whole-genome sequencing reveals host factors underlying critical COVID-19
A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ...
Nature 607 (7917), 97-103, 2022
Mandates: US National Institutes of Health, UK Biotechnology and Biological Sciences …
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
C Angelini, C Semplicini, S Ravaglia, B Bembi, S Servidei, E Pegoraro, ...
Journal of neurology 259, 952-958, 2012
Mandates: Fondazione Telethon, Italy
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells
F Invernizzi, I D'amato, PB Jensen, S Ravaglia, M Zeviani, V Tiranti
Mitochondrion 12 (2), 328-335, 2012
Mandates: Fondazione Telethon, Italy
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy
G Parenti, S Fecarotta, G La Marca, B Rossi, S Ascione, MA Donati, ...
Molecular Therapy 22 (11), 2004-2012, 2014
Mandates: Fondazione Telethon, Italy
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry
A Nikolic, G Ricci, F Sera, E Bucci, M Govi, F Mele, M Rossi, L Ruggiero, ...
BMJ open 6 (1), e007798, 2016
Mandates: Fondazione Telethon, Italy
Genotype-phenotype correlation in Pompe disease, a step forward
P De Filippi, K Saeidi, S Ravaglia, A Dardis, C Angelini, T Mongini, ...
Orphanet journal of rare diseases 9, 1-11, 2014
Mandates: Fondazione Telethon, Italy
TTC19 plays a husbandry role on UQCRFS1 turnover in the biogenesis of mitochondrial respiratory complex III
E Bottani, R Cerutti, ME Harbour, S Ravaglia, SA Dogan, C Giordano, ...
Molecular cell 67 (1), 96-105. e4, 2017
Mandates: UK Medical Research Council, European Commission
New motor outcome function measures in evaluation of late‐onset Pompe disease before and after enzyme replacement therapy
C Angelini, C Semplicini, S Ravaglia, M Moggio, GP Comi, O Musumeci, ...
Muscle & nerve 45 (6), 831-834, 2012
Mandates: Fondazione Telethon, Italy
COVID-19 and Guillain-Barre syndrome: a systematic review of case reports
RM Carrillo-Larco, C Altez-Fernandez, S Ravaglia, JA Vizcarra
Wellcome Open Research 5, 2020
Mandates: Wellcome Trust
COVID‐19 in patients with myasthenia gravis: epidemiology and disease course
P Businaro, G Vaghi, E Marchioni, L Diamanti, S Arceri, P Bini, E Colombo, ...
Muscle & Nerve 64 (2), 206-211, 2021
Mandates: Government of Italy
Varicella zoster virus meningo-encephalo-myelitis in an immunocompetent patient
E Tavazzi, L Minoli, P Ferrante, P Scagnelli, S Del Bue, A Romani, ...
Neurological sciences 29, 279-283, 2008
Mandates: US National Institutes of Health
Prognostic indicators and outcomes of hospitalised COVID-19 patients with neurological disease: An individual patient data meta-analysis
B Singh, S Lant, S Cividini, JWS Cattrall, LC Goodwin, L Benjamin, ...
PLoS One 17 (6), e0263595, 2022
Mandates: UK Medical Research Council, National Institute for Health Research, UK …
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
E Mauri, E Abati, O Musumeci, C Rodolico, MG D’Angelo, M Mirabella, ...
Acta Myologica 39 (2), 57, 2020
Mandates: Government of Italy
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
L Melchionda, M Fang, H Wang, V Fugnanesi, M Morbin, X Liu, W Li, ...
Orphanet Journal of Rare Diseases 8, 1-8, 2013
Mandates: Fondazione Telethon, Italy, UK Medical Research Council, Fondazione Cariplo
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
M D’Antonio, JP Nguyen, TD Arthur, H Matsui, BM Neale, M Daly, ...
Cell reports 37 (7), 2021
Mandates: US National Institutes of Health, State of Califonia
COVID-19 and Guillain-Barré syndrome: A single-center prospective case series with a 1-year follow-up
L Ahmad, P Businaro, S Regalbuto, M Gastaldi, E Zardini, M Panzeri, ...
Medicine 101 (30), e29704, 2022
Mandates: Government of Italy
Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2
F Antonaci, S Ravaglia, GS Grieco, S Gagliardi, C Cereda, A Costa
The Journal of Headache and Pain 22, 1-6, 2021
Mandates: Government of Italy
HaNDL syndrome: a reversible cerebral vasoconstriction triggered by an infection? A case report and a case-based review
G Fiamingo, I Canavero, M Gastaldi, E Coloberti, G Buongarzone, ...
European Journal of Medical Research 27 (1), 196, 2022
Mandates: Government of Italy
Publication and funding information is determined automatically by a computer program