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MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.
Published in:
Cell Biochemistry & Function, 2016, v. 34, n. 6, p. 414, doi. 10.1002/cbf.3202
By:
- Aguennouz, M.;
- Lo Giudice, C.;
- Licata, N.;
- Rodolico, C.;
- Musumeci, O.;
- Fanin, M.;
- Migliorato, A.;
- Ragusa, M.;
- Macaione, V.;
- Di Giorgio, R. M.;
- Angelini, C.;
- Toscano, A.
Publication type:
Article
Cerebellar ataxia and severe muscle CoQ<sub>10</sub> deficiency in a patient with a novel mutation in ADCK3.
Published in:
Clinical Genetics, 2016, v. 90, n. 2, p. 156, doi. 10.1111/cge.12742
By:
- Barca, E.;
- Musumeci, O.;
- Montagnese, F.;
- Marino, S.;
- Granata, F.;
- Nunnari, D.;
- Peverelli, L.;
- DiMauro, S.;
- Quinzii, C.M.;
- Toscano, A.
Publication type:
Article
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Published in:
Clinical Genetics, 2012, v. 81, n. 2, p. 150, doi. 10.1111/j.1399-0004.2011.01624.x
By:
- Arnoldi, A;
- Crimella, C;
- Tenderini, E;
- Martinuzzi, A;
- D'Angelo, MG;
- Musumeci, O;
- Toscano, A;
- Scarlato, M;
- Fantin, M;
- Bresolin, N;
- Bassi, MT
Publication type:
Article
Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases.
Published in:
European Journal of Neurology, 2010, v. 17, n. 9, p. 1178, doi. 10.1111/j.1468-1331.2010.02992.x
By:
- Sansone, Valeria A.;
- Panzeri, M.;
- Montanari, M.;
- Apolone, G.;
- Gandossini, S.;
- Rose, M. R.;
- Politano, L.;
- Solimene, C.;
- Siciliano, G.;
- Volpi, L.;
- Angelini, C.;
- Palmieri, A.;
- Toscano, A.;
- Musumeci, O.;
- Mongini, T.;
- Vercelli, L.;
- Massa, R.;
- Panico, M. B.;
- Grandi, M.;
- Meola, G.
Publication type:
Article
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Published in:
2016
By:
- Fiorillo, C.;
- Astrea, G.;
- Savarese, M.;
- Cassandrini, D.;
- Brisca, G.;
- Trucco, F.;
- Pedemonte, M.;
- Trovato, R.;
- Ruggiero, L.;
- Vercelli, L.;
- D'Amico, A.;
- Tasca, G.;
- Pane, M.;
- Fanin, M.;
- Bello, L.;
- Broda, P.;
- Musumeci, O.;
- Rodolico, C.;
- Messina, S.;
- Vita, G. L.
Publication type:
journal article
Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
Published in:
Neuropathology & Applied Neurobiology, 2018, v. 44, n. 5, p. 449, doi. 10.1111/nan.12414
By:
- Ripolone, M.;
- Violano, R.;
- Ronchi, D.;
- Mondello, S.;
- Nascimbeni, A.;
- Colombo, I.;
- Fagiolari, G.;
- Bordoni, A.;
- Fortunato, F.;
- Lucchini, V.;
- Saredi, S.;
- Filosto, M.;
- Musumeci, O.;
- Tonin, P.;
- Mongini, T.;
- Previtali, S.;
- Morandi, L.;
- Angelini, C.;
- Mora, M.;
- Sandri, M.
Publication type:
Article
Multi-system neurological disease is common in patients with OPA1 mutations.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 771, doi. 10.1093/brain/awq007
By:
- Yu-Wai-Man, P.;
- Griffiths, P. G.;
- Gorman, G. S.;
- Lourenco, C. M.;
- Wright, A. F.;
- Auer-Grumbach, M.;
- Toscano, A.;
- Musumeci, O.;
- Valentino, M. L.;
- Caporali, L.;
- Lamperti, C.;
- Tallaksen, C. M.;
- Duffey, P.;
- Miller, J.;
- Whittaker, R. G.;
- Baker, M. R.;
- Jackson, M. J.;
- Clarke, M. P.;
- Dhillon, B.;
- Czermin, B.
Publication type:
Article
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
Published in:
Journal of Neurology, 2022, v. 269, n. 12, p. 6555, doi. 10.1007/s00415-022-11324-3
By:
- Montano, V.;
- Lopriore, P.;
- Gruosso, F.;
- Carelli, V.;
- Comi, G. P.;
- Filosto, M.;
- Lamperti, C.;
- Mongini, T.;
- Musumeci, O.;
- Servidei, S.;
- Tonin, P.;
- Toscano, A.;
- Primiano, G.;
- Valentino, M. L.;
- Bortolani, S.;
- Marchet, S.;
- Ricci, G.;
- Modenese, A.;
- Cotti Piccinelli, S.;
- Risi, B.
Publication type:
Article
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.
Published in:
Journal of Neurology, 2022, v. 269, n. 3, p. 1413, doi. 10.1007/s00415-021-10697-1
By:
- Montano, V.;
- Orsucci, D.;
- Carelli, V.;
- La Morgia, C.;
- Valentino, M. L.;
- Lamperti, C.;
- Marchet, S.;
- Musumeci, O.;
- Toscano, A.;
- Primiano, G.;
- Santorelli, F. M.;
- Ticci, C.;
- Filosto, M.;
- Rubegni, A.;
- Mongini, T.;
- Tonin, P.;
- Servidei, S.;
- Ceravolo, R.;
- Siciliano, G.;
- Mancuso, Michelangelo
Publication type:
Article
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Published in:
Journal of Neurology, 2015, v. 262, n. 4, p. 968, doi. 10.1007/s00415-015-7664-0
By:
- Montagnese, Federica;
- Barca, E.;
- Musumeci, O.;
- Mondello, S.;
- Migliorato, A.;
- Ciranni, A.;
- Rodolico, C.;
- Filippi, P.;
- Danesino, C.;
- Toscano, A.
Publication type:
Article
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
Published in:
Journal of Neurology, 2012, v. 259, n. 5, p. 952, doi. 10.1007/s00415-011-6293-5
By:
- Angelini, C.;
- Semplicini, C.;
- Ravaglia, S.;
- Bembi, B.;
- Servidei, S.;
- Pegoraro, E.;
- Moggio, M.;
- Filosto, M.;
- Sette, E.;
- Crescimanno, G.;
- Tonin, P.;
- Parini, R.;
- Morandi, L.;
- Marrosu, G.;
- Greco, G.;
- Musumeci, O.;
- Di Iorio, G.;
- Siciliano, G.;
- Donati, M.;
- Carubbi, F.
Publication type:
Article
Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis.
Published in:
European Journal of Neurology, 2019, v. 26, n. 3, p. 442, doi. 10.1111/ene.13835
By:
- Musumeci, O.;
- Marino, S.;
- Granata, F.;
- Morabito, R.;
- Bonanno, L.;
- Brizzi, T.;
- Lo Buono, V.;
- Corallo, F.;
- Longo, M.;
- Toscano, A.
Publication type:
Article
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
Published in:
Human Mutation, 2006, v. 27, n. 6, p. 600, doi. 10.1002/humu.9426
By:
- Lucchiari, S.;
- Pagliarani, S.;
- Salani, S.;
- Filocamo, M.;
- Di Rocco, M.;
- Melis, D.;
- Rodolico, C.;
- Musumeci, O.;
- Toscano, A.;
- Bresolin, N.;
- Comi, G.P.
Publication type:
Article
Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).
Published in:
2013
By:
- Violano, R.;
- Ripolone, M.;
- Lucchini, V.;
- Villa, L.;
- Sciacco, M.;
- Comi, G.;
- Tonin, P.;
- Filosto, M.;
- Previtali, S.;
- Mongini, T.;
- Vercelli, L.;
- Vittonatto, E.;
- Toscano, A.;
- Musumeci, O.;
- Barca, E.;
- Angelini, C.;
- Ravaglia, S.;
- Lamperti, C.;
- Mora, M.;
- Morandi, L.
Publication type:
Abstract
Quantitative muscle MRI and functional measures in a cohort of late onset GSD II patients.
Published in:
2013
By:
- Musumeci, O.;
- Gaeta, M.;
- Barca, E.;
- Mileto, A.;
- Vita, G.;
- Toscano, A.
Publication type:
Abstract
Clinical, morphological and genetic features of a cohort of late onset GSD II patients: typical and atypical presentations.
Published in:
2013
By:
- Barca, E.;
- Musumeci, O.;
- Rodolico, C.;
- Ciranni, A.;
- Vita, G.;
- Toscano, A.
Publication type:
Abstract
Atypical rat cerebellar immunoreactivity in a patient with familial amyloid polyneuropathy.
Published in:
2004
By:
- Mazzeo, A.;
- Laur, M;
- Giometto, B;
- Ferlini, A;
- Musumeci, O;
- Autunno, M;
- Vita, G;
- Messina, C
Publication type:
Abstract
Chinese red rice depletes muscle coenzyme Q10 and maintains muscle damage after discontinuation of statin treatment.
Published in:
2006
By:
- Vercelli L;
- Mongini T;
- Olivero N;
- Rodolico C;
- Musumeci O;
- Palmucci L
Publication type:
Journal Article

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