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

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.

Journal of neurology, 2012-05, Vol.259 (5), p.952-958 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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2
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results
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GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

Bersano, Anna ; Bedini, Gloria ; Nava, Sara ; Acerbi, Francesco ; Sebastiano, Davide Rossi ; Binelli, Simona ; Franceschetti, Silvana ; Faragò, Giuseppe ; Grisoli, Marina ; Gioppo, Andrea ; Ferroli, Paolo ; Bruzzone, Maria Grazia ; Riva, Daria ; Ciceri, Elisa ; Pantaleoni, Chiara ; Saletti, Veronica ; Esposito, Silvia ; Nardocci, Nardo ; Zibordi, Federica ; Caputi, Luigi ; Marzoli, Stefania Bianchi ; Zedde, Maria Luisa ; Pavanello, Marco ; Raso, Alessandro ; Capra, Valeria ; Pantoni, Leonardo ; Sarti, Cristina ; Pezzini, Alessandro ; Caria, Filomena ; Dell’ Acqua, Maria Luisa ; Zini, Andrea ; Baracchini, Claudio ; Farina, Filippo ; Sanguigni, Sandro ; De Lodovici, Maria Luisa ; Bono, Giorgio ; Capone, Fioravanti ; Di Lazzaro, Vincenzo ; Lanfranconi, Silvia ; Toscano, Massimiliano ; Di Piero, Vittorio ; Sacco, Simona ; Carolei, Antonio ; Toni, Danilo ; Paciaroni, Maurizio ; Caso, Valeria ; Perrone, Patrizia ; Calloni, Maria Vittoria ; Romani, Alfredo ; Cenzato, Marco ; Fratianni, Alessia ; Ciusani, Emilio ; Prontera, Paolo ; Lasserve, Elisabeth Tournier ; Blecharz, Kinga ; Vajkoczy, Peter ; Parati, Eugenio Agostino

Neurological sciences, 2019-03, Vol.40 (3), p.561-570 [Periódico revisado por pares]

Cham: Springer International Publishing

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3
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency
Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency
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Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency

Corti, S ; Bordoni, A ; Ronchi, D ; Musumeci, O ; Aguennouz, M ; Toscano, A ; Lamperti, C ; Bresolin, N ; Comi, G.P

Journal of the neurological sciences, 2008-03, Vol.266 (1), p.97-103 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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4
Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease
Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease
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Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

Crescimanno, G ; Modica, R ; Lo Mauro, R ; Musumeci, O ; Toscano, A ; Marrone, O

Neuromuscular disorders : NMD, 2015-07, Vol.25 (7), p.542-547 [Periódico revisado por pares]

England: Elsevier B.V

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5
Muscle pain in mitochondrial diseases: a picture from the Italian network
Muscle pain in mitochondrial diseases: a picture from the Italian network
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Muscle pain in mitochondrial diseases: a picture from the Italian network

Filosto, Massimiliano ; Cotti Piccinelli, Stefano ; 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

Journal of neurology, 2019-04, Vol.266 (4), p.953-959 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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6
Metabolic and neurological consequences of the treatment with polyphenols: a systematic review in rodent models of noncommunicable diseases
Metabolic and neurological consequences of the treatment with polyphenols: a systematic review in rodent models of noncommunicable diseases
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Metabolic and neurological consequences of the treatment with polyphenols: a systematic review in rodent models of noncommunicable diseases

Lacerda, D. C. ; Urquiza-Martínez, M. V. ; Manhaes-de-Castro, R. ; Visco, D. B. ; Derosier, C. ; Mercado-Camargo, R. ; Torner, L. ; Toscano, A. E. ; Guzmán-Quevedo, O.

Nutritional neuroscience, 2022-08, Vol.25 (8), p.1680-1696 [Periódico revisado por pares]

England: Taylor & Francis

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7
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases
Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases
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Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

Mancuso, M ; Angelini, C ; Bertini, E ; Carelli, V ; Comi, G.P ; Minetti, C ; Moggio, M ; Mongini, T ; Servidei, S ; Tonin, P ; Toscano, A ; Uziel, G ; Zeviani, M ; Siciliano, G

Neuromuscular disorders : NMD, 2012-12, Vol.22 (3-3), p.S226-S229 [Periódico revisado por pares]

England: Elsevier B.V

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8
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
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Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment

Montagnese, Federica ; Barca, E. ; Musumeci, O. ; Mondello, S. ; Migliorato, A. ; Ciranni, A. ; Rodolico, C. ; De Filippi, P. ; Danesino, C. ; Toscano, A.

Journal of neurology, 2015-04, Vol.262 (4), p.968-978 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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9
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
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Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort

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

Journal of neurology, 2022-12, Vol.269 (12), p.6555-6565 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network
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Adult-onset mitochondrial movement disorders: a national picture from the Italian Network

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

Journal of neurology, 2022-03, Vol.269 (3), p.1413-1421 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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