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Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
Author / Creator: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 ; Meneri, M ; Arena, I. G ; Siciliano, G ; Mancuso, Michelangelo
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2022-12, Vol.269 (12), p.6555-6565
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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
Author / Creator: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
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2022-03, Vol.269 (3), p.1413-1421
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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
Author / Creator:Musumeci, O ; la Marca, G ; Spada, M ; Mondello, S ; Danesino, C ; Comi, G P ; Pegoraro, E ; Antonini, G ; Marrosu, G ; Liguori, R ; Morandi, L ; Moggio, M ; Massa, R ; Ravaglia, S ; Di Muzio, A ; Filosto, M ; Tonin, P ; Di Iorio, G ; Servidei, S ; Siciliano, G ; Angelini, C ; Mongini, T ; Toscano, A
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2016-01, Vol.87 (1), p.5-11
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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
Author / Creator: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. A. ; Carubbi, F. ; Ermani, M. ; Mongini, T. ; Toscano, A.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2012-05, Vol.259 (5), p.952-958
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Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Author / Creator:Orsucci, D. ; Angelini, C. ; Bertini, E. ; Carelli, V. ; Comi, G. P. ; Federico, A. ; Minetti, C. ; Moggio, M. ; Mongini, T. ; Santorelli, F. M. ; Servidei, S. ; Tonin, P. ; Ardissone, A. ; Bello, L. ; Bruno, C. ; Ienco, E. Caldarazzo ; Diodato, D. ; Filosto, M. ; Lamperti, C. ; Moroni, I. ; Musumeci, O. ; Pegoraro, E. ; Primiano, G. ; Ronchi, D. ; Rubegni, A. ; Salvatore, S. ; Sciacco, M. ; Valentino, M. L. ; Vercelli, L. ; Toscano, A. ; Zeviani, M. ; Siciliano, G. ; Mancuso, M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2017-08, Vol.264 (8), p.1777-1784
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The brain in late-onset glycogenosis II: a structural and functional MRI study
Author / Creator:Borroni, Barbara ; Cotelli, M. S. ; Premi, E. ; Gazzina, S. ; Cosseddu, M. ; Formenti, A. ; Gasparotti, R. ; Filosto, M. ; Padovani, A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.989-995
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Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition
Author / Creator:Tomelleri, G ; Vattemi, G ; Filosto, M ; Tonin, P
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2007-06, Vol.78 (6), p.632-634
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Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C
Author / Creator:Filosto, M ; Tonin, P ; Vattemi, G ; Scarpelli, M ; Baronchelli, C ; Broglio, L ; Tentorio, M ; Cotelli, M ; Padovani, A ; Tomelleri, G
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2009-04, Vol.80 (4), p.448-449
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Spinal muscular atrophy and mitochondrial DNA depletion: Response to Berber et al. (2003) Acta Neuropathol 105:245–251
Author / Creator:Mancuso, M. ; Filosto, M. ; Hirano, M. ; DiMauro, S.
Publisher:Germany: Springer Nature B.V
Journal title:Acta neuropathologica, 2003-06, Vol.105 (6), p.621-622
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A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome
Author / Creator:Mancuso, M ; Vives-Bauza, C ; Filosto, M ; Marti, R ; Solano, A ; Montoya, J ; Gamez, J ; DiMauro, S ; Andreu, A L
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2004-06, Vol.41 (6), p.e73-e73
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Multicentre, cross-cultural, population-based, case–control study of physical activity as risk factor for amyotrophic lateral sclerosis
Author / Creator:Visser, Anne E ; Rooney, James P K ; D’Ovidio, Fabrizio ; Westeneng, Henk-Jan ; Vermeulen, Roel C H ; Beghi, Ettore ; Chiò, Adriano ; Logroscino, Giancarlo ; Hardiman, Orla ; Veldink, Jan H ; van den Berg, Leonard H
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2018-08, Vol.89 (8), p.797-803
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Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report
Author / Creator:Filosto, M. ; Tonin, P. ; Vattemi, G. ; Bongiovanni, L. G. ; Rizzuto, N. ; Tomelleri, G.
Publisher:Italy: Springer Nature B.V
Journal title:Neurological sciences, 2001-06, Vol.22 (3), p.253-256
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Muscle pain in mitochondrial diseases: a picture from the Italian network
Author / Creator:Filosto, Massimiliano ; Piccinelli, Stefano Cotti ; Lamperti, Costanza ; Mongini, Tiziana ; Servidei, Serenella ; Musumeci, Olimpia ; Tonin, Paola ; Santorelli, Filippo Maria ; Simoncini, Costanza ; Primiano, Guido ; Vercelli, Liliana ; Rubegni, Anna ; Galvagni, Anna ; Moggio, Maurizio ; Comi, Giacomo Pietro ; Carelli, Valerio ; Toscano, Antonio ; Padovani, Alessandro ; Siciliano, Gabriele ; Mancuso, Michelangelo
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2019-04, Vol.266 (4), p.953-959
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Mitochondrial diseases: advances and issues Mitochondrial diseases: advances and issues
Author / Creator:Scarpelli M ; Todeschini A ; Volonghi I ; Padovani A ; Filosto M
Publisher:Dove Medical Press
Journal title:Application of clinical genetics, 2017-02, Vol.10, p.21-26
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Definite multiple system atrophy in a German family
Author / Creator:Wüllner, U ; Schmitt, I ; Kammal, M ; Kretzschmar, H A ; Neumann, M
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2009-04, Vol.80 (4), p.449-450
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Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT)
Author / Creator: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 ; Moggio, M
Publisher:London: BioMed Central
Journal title:BMC musculoskeletal disorders, 2013-05, Vol.14 (S2), p.P13-P13, Article P13
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Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases
Author / Creator:Filosto, Massimiliano ; Tonin, Paola ; Vattemi, Gaetano ; Spagnolo, Michele ; Rizzuto, Nicolò ; Tomelleri, Giuliano
Publisher:Berlin: Springer
Journal title:Acta neuropathologica, 2002-03, Vol.103 (3), p.215-220
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Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)
Author / Creator:Simonati, Alessandro ; Filosto, Massimiliano ; Savio, Chiara ; Tomelleri, Giuliano ; Tonin, Paola ; Dalla Bernardina, Bernardo ; Rizzuto, Nicolo'
Publisher:Berlin: Springer
Journal title:Acta neuropathologica, 2003-07, Vol.106 (1), p.57-65
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Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation
Author / Creator:Filosto, Massimiliano ; Mancuso, Michelangelo ; Tomelleri, Giuliano ; Rizzuto, Nicolo? ; Dalla Bernardina, Bernardo ; DiMauro, Salvatore ; Simonati, Alessandro
Publisher:Germany: Springer Nature B.V
Journal title:Acta neuropathologica, 2004-08, Vol.108 (2), p.168-171
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Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease
Author / Creator:Simonati, Alessandro ; Filosto, Massimiliano ; Tomelleri, Giuliano ; Savio, Chiara ; Tonin, Paola ; Polo, Alberto ; Rizzuto, Nicol
Publisher:Berlin: Springer
Journal title:Journal of neurology, 2003-06, Vol.250 (6), p.702-706
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Showing 1 to 20 of 30 results

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Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

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LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

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Revisiting mitochondrial ocular myopathies: a study from the Italian Network

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The brain in late-onset glycogenosis II: a structural and functional MRI study

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Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition

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Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C

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Spinal muscular atrophy and mitochondrial DNA depletion: Response to Berber et al. (2003) Acta Neuropathol 105:245–251

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A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome

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Multicentre, cross-cultural, population-based, case–control study of physical activity as risk factor for amyotrophic lateral sclerosis

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Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report

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Muscle pain in mitochondrial diseases: a picture from the Italian network

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Mitochondrial diseases: advances and issues Mitochondrial diseases: advances and issues

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Definite multiple system atrophy in a German family

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Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT)

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Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases

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Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease)

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Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation

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Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease

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