Articles with public access mandates - Giorgio TascaLearn more
Not available anywhere: 11
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
F Fattori, L Maggi, C Bruno, D Cassandrini, V Codemo, M Catteruccia, ...
Journal of neurology 262, 1728-1740, 2015
Mandates: Fondazione Telethon, Italy
Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies
J Verdú-Díaz, J Alonso-Pérez, C Nuñez-Peralta, G Tasca, J Vissing, ...
Neurology 94 (10), e1094-e1102, 2020
Mandates: Government of Spain
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype
M Luigetti, GM Fabrizi, F Madia, M Ferrarini, A Conte, A Del Grande, ...
Journal of the neurological sciences 298 (1-2), 114-117, 2010
Mandates: US National Institutes of Health
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
A Alonso-Jimenez, RH Kroon, A Alejaldre-Monforte, C Nuñez-Peralta, ...
Journal of Neurology, Neurosurgery & Psychiatry 90 (5), 576-585, 2019
Mandates: Government of Spain
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect
D Verrigni, D Diodato, M Di Nottia, A Torraco, E Bellacchio, T Rizza, ...
Clinical Genetics 91 (6), 918-923, 2017
Mandates: Government of Italy
Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene
G Tasca, F Moro, C Aiello, D Cassandrini, C Fiorillo, E Bertini, C Bruno, ...
Neurology 80 (10), 963-965, 2013
Mandates: Fondazione Telethon, Italy
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
G Giacomucci, M Monforte, J Diaz‐Manera, K Mul, R Fernandez Torrón, ...
European Journal of Neurology 27 (12), 2604-2615, 2020
Mandates: Netherlands Organisation for Scientific Research, European Commission …
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy
W van Tol, M van Scherpenzeel, M Alsady, M Riemersma, E Hermans, ...
Clinical Chemistry 65 (10), 1295-1306, 2019
Mandates: Netherlands Organisation for Scientific Research, European Commission
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
S Quijano-Roy, J Haberlova, C Castiglioni, J Vissing, F Munell, F Rivier, ...
Journal of Neurology, 1-16, 2022
Mandates: Government of Spain
Muscle inflammatory pattern in alpha-and gamma-sarcoglycanopathies
C Panicucci, S Baratto, L Raffaghello, P Tonin, A D’Amico, G Tasca, ...
Clinical neuropathology 40 (6), 310, 2021
Mandates: Fondazione Telethon, Italy, Government of Italy
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy
M Schiava, RM Lofra, JP Bourke, MK James, J Díaz-Manera, MA Elseed, ...
Neuromuscular Disorders 41, 8-19, 2024
Mandates: National Institute for Health Research, UK
Available somewhere: 71
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
J Sarparanta, PH Jonson, C Golzio, S Sandell, H Luque, M Screen, ...
Nature genetics 44 (4), 450-455, 2012
Mandates: US National Institutes of Health
Different impact of sex on baseline characteristics and major periprocedural outcomes of transcatheter and surgical aortic valve interventions: results of the multicenter …
F Onorati, P D’Errigo, M Barbanti, S Rosato, RD Covello, A Maraschini, ...
The Journal of thoracic and cardiovascular surgery 147 (5), 1529-1539, 2014
Mandates: Government of Italy
The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients
M Savarese, G Di Fruscio, A Torella, C Fiorillo, F Magri, M Fanin, ...
Neurology 87 (1), 71-76, 2016
Mandates: Fondazione Telethon, Italy
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
F Magri, V Nigro, C Angelini, T Mongini, M Mora, I Moroni, A Toscano, ...
Muscle & nerve 55 (1), 55-68, 2017
Mandates: Fondazione Telethon, Italy
Prevalence of congenital muscular dystrophy in Italy: a population study
A Graziano, F Bianco, A D'Amico, I Moroni, S Messina, C Bruno, ...
Neurology 84 (9), 904-911, 2015
Mandates: Fondazione Telethon, Italy, Government of Italy
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking
RFR Schindler, C Scotton, J Zhang, C Passarelli, B Ortiz-Bonnin, ...
The Journal of clinical investigation 126 (1), 239-253, 2016
Mandates: US National Institutes of Health, German Research Foundation, British Heart …
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping
K Anthony, V Arechavala-Gomeza, V Ricotti, S Torelli, L Feng, N Janghra, ...
JAMA neurology 71 (1), 32-40, 2014
Mandates: UK Medical Research Council, Wellcome Trust
Interpreting genetic variants in titin in patients with muscle disorders
M Savarese, L Maggi, A Vihola, PH Jonson, G Tasca, L Ruggiero, L Bello, ...
JAMA neurology 75 (5), 557-565, 2018
Mandates: Academy of Finland, Fondazione Telethon, Italy
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
C Fiorillo, G Astrea, M Savarese, D Cassandrini, G Brisca, F Trucco, ...
Orphanet journal of rare diseases 11, 1-14, 2016
Mandates: Fondazione Telethon, Italy, Government of Italy
Publication and funding information is determined automatically by a computer program