BRUNO, CLAUDIO
BRUNO, CLAUDIO
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network
2016-01-01 Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Comi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
2023-01-01 Stimpson, G.; Ramsey, D.; Wolfe, A.; Mayhew, A.; Scoto, M.; Baranello, G.; Muni Lofra, R.; Main, M.; Milev, E.; Coratti, G.; Pane, M.; Sansone, V.; D'Amico, A.; Bertini, E.; Messina, S.; Bruno, C.; Albamonte, E.; Mazzone, E. S.; Montes, J.; Glanzman, A. M.; Zolkipli-Cunningham, Z.; Pasternak, A.; Duong, T.; Dunaway Young, S.; Civitello, M.; Marini-Bettolo, C.; Day, J. W.; Darras, B. T.; De Vivo, D. C.; Finkel, R. S.; Mercuri, E.; Muntoni, F.
24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy
2013-01-01 Mazzone, E. S.; Pane, M.; Sormani, M. P.; Scalise, R.; Berardinelli, A.; Messina, S.; Torrente, Y.; D(')Amico, A.; Doglio, L.; Viggiano, E.; D(')Ambrosio, P.; Cavallaro, F.; Frosini, S.; Bello, L.; Bonfiglio, S.; de Sanctis, R.; Rolle, E.; Bianco, F.; Magri, F.; Rossi, F.; Vasco, G.; Vita, G. L.; Motta, M. C.; Donati, M. A.; Sacchini, M.; Mongini, T.; Pini, A.; Battini, R.; Pegoraro, E.; Previtali, S.; Napolitano, S.; Bruno, C.; Politano, L.; Comi, G. P.; Bertini, E.; Mercuri, E.
[Early myoclonic encephalopathy and spinal muscular atrophy type I].
1995-01-01 Bado, M; Bruno, C; Morreale, G; Parisi, F; Minetti, Carlo; Cordone, G.
[Muscle phosphorylase deficiency in childhood. A case report].
1994-01-01 Bruno, C; Iester, A; Bado, M; Morreale, G; Broda, P; Minetti, Carlo; Cordone, A; Cordone, G.
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy
2006-01-01 Cassandrini, D; Calevo, Mg; Tessa, A; Manfredi, G; Fattori, F; Meschini, Mc; Carrozzo, R; Tonoli, E; Pedemonte, M; Minetti, Carlo; Zara, F; Santorelli, Fm; Bruno, C.
A novel missense mutation (W797R) in the myophosphorylase gene in spanish patients with McArdle disease
2000-01-01 Fcmandcz, R.; Navarro, C.; Andren, A. L.; Bruno, C.; Shanskc, S.; G('a)mcz, J.; Teijcira, S.; Hem('a)ndcz, I.; Teijeiro, A.; Fern('a)ndcz, J. M.; Musumeci, O.; Dimauro, S.
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
1999-01-01 Bruno, C; Dirocco, M; Lamba, Ld; Bado, M; Marino, C; Tsujino, S; Shanske, S; Stella, G; Minetti, Carlo; van Diggelen, Op; Dimauro, S.
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
2002-01-01 Bruno, C; Biancheri, R; Garavaglia, B; Biedi, C; Rossi, A; Lamba, Ld; Bado, M; Greco, M; Zeviani, M; Minetti, Carlo
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies
2023-01-01 Benzi, Andrea; Baratto, Serena; Astigiano, Cecilia; Sturla, Laura; Panicucci, Chiara; Mamchaoui, Kamel; Raffaghello, Lizzia; Bruzzone, Santina; Gazzerro, Elisabetta; Bruno, Claudio
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen
2021-01-01 Coratti, G.; Pane, M.; Lucibello, S.; Pera, M. C.; Pasternak, A.; Montes, J.; Sansone, V. A.; Duong, T.; Dunaway Young, S.; Messina, S.; D'Amico, A.; Civitello, M.; Glanzman, A. M.; Bruno, C.; Salmin, F.; Tacchetti, P.; Carnicella, S.; Sframeli, M.; Antonaci, L.; Frongia, A. L.; De Vivo, D. C.; Darras, B. T.; Day, J.; Bertini, E.; Muntoni, F.; Finkel, R.; Mercuri, E.
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy
2022-01-01 Coratti, G.; Lenkowicz, J.; Norcia, G.; Lucibello, S.; Ferraroli, E.; D'Amico, A.; Bello, L.; Pegoraro, E.; Messina, S.; Ricci, F.; Mongini, T.; Berardinelli, A.; Masson, R.; Previtali, S. C.; D'Angelo, G.; Magri, F.; Comi, G. P.; Politano, L.; Passamano, L.; Vita, G.; Sansone, V. A.; Albamonte, E.; Panicucci, C.; Bruno, C.; Pini, A.; Bertini, E.; Patarnello, S.; Pane, M.; Mercuri, E.; Fanelli, L.; Forcina, N.; Stanca, G.; Carnicella, S.; De Sanctis, R.; Brogna, C.; Cutrona, C.; Frongia, A. L.; Pera, M. C.; Antonaci, L.; Ferrantini, G.; Berti, B.; Leone, D.; Palermo, C.; Giannotta, M.; Colia, G.; Carlesi, A.; De Luca, G.; Mizzoni, I.; Bonetti, A.; Catteruccia, M.; Di Bella, V.; Sframeli, M.; Russo, M.; Rolle, E.; Gardani, A.; Parravicini, S.; Zanin, R.; Arnoldi, M. T.; Dosi, C.; Pedrinelli, I.; Baranello, G.; Albamonte, E.; Salmin, F.; Morando, S.
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
2011-01-01 Fanin, M; Anichini, A; Cassandrini, D; Fiorillo, C; Scapolan, S; Minetti, Carlo; Cassanello, M; Donati, M; Siciliano, G; D'Amico, A; Lilliu, F; Bruno, C; Angelini, C.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019-01-01 Salpietro, V; Dixon, Cl; Guo, H; Bello, Od; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S; Torti, E; Hacke, M; Rankin, J; Tariq, H; Colin, E; Procaccio, V; Striano, P; Mankad, K; Lieb, A; Chen, S; Pisani, L; Bettencourt, C; Männikkö, R; Manole, A; Brusco, A; Grosso, E; Ferrero, Gb; Armstrong-Moron, J; Gueden, S; Bar-Yosef, O; Tzadok, M; Monaghan, Kg; Santiago-Sim, T; Person, Re; Cho, Mt; Willaert, R; Yoo, Y; Chae, Jh; Quan, Y; Wu, H; Wang, T; Bernier, Ra; Xia, K; Blesson, A; Jain, M; Motazacker, Mm; Jaeger, B; Schneider, Al; Boysen, K; Muir, Am; Myers, Ct; Gavrilova, Rh; Gunderson, L; Schultz-Rogers, L; Klee, Ew; Dyment, D; Osmond, M; Parellada, M; Llorente, C; Gonzalez-Peñas, J; Carracedo, A; Van Haeringen, A; Ruivenkamp, C; Nava, C; Heron, D; Nardello, R; Iacomino, M; Minetti, C; Skabar, A; Fabretto, A; SYNAPS Study, Group; Raspall-Chaure, M; Chez, M; Tsai, A; Fassi, E; Shinawi, M; Constantino, Jn; De Zorzi, R; Fortuna, S; Kok, F; Keren, B; Bonneau, D; Choi, M; Benzeev, B; Zara, F; Mefford, Hc; Scheffer, Ie; Clayton-Smith, J; Macaya, A; Rothman, Je; Eichler, Ee; Kullmann, Dm; Houlden, H; Hanna, Mg; Bugiardini, E; Hostettler, I; O'Callaghan, B; Khan, A; Cortese, A; O'Connor, E; Yau, Wy; Bourinaris, T; Kaiyrzhanov, R; Chelban, V; Madej, M; Diana, Mc; Vari, Ms; Pedemonte, M; Bruno, C; Balagura, G; Scala, M; Fiorillo, C; Nobili, L; Malintan, Nt; Zanetti, Mn; Krishnakumar, Ss; Lignani, G; Jepson, Jec; Broda, P; Baldassari, S; Rossi, P; Fruscione, F; Madia, F; Traverso, M; De-Marco, P; Pérez-Dueñas, B; Munell, F; Kriouile, Y; El-Khorassani, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van-Maldergem, L; Nachbauer, W; Boesch, S; Gagliano, A; Amadori, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Zuccotti, Gv; Ferrari, Md; Van Den Maagdenberg, Amj; Verrotti, A; Marseglia, Gl; Savasta, S; Soler, Ma; Scuderi, C; Borgione, E; Chimenz, R; Gitto, E; Dipasquale, V; Sallemi, A; Fusco, M; Cuppari, C; Cutrupi, Mc; Ruggieri, M; Cama, A; Capra, V; Mencacci, Ne; Boles, R; Gupta, N; Kabra, M; Papacostas, S; Zamba-Papanicolaou, E; Dardiotis, E; Maqbool, S; Rana, N; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Coviello, Da; Dauvilliers, Ya; Alkhawaja, I; Alkhawaja, M; Al-Mutairi, F; Stojkovic, T; Ferrucci, V; Zollo, M; Alkuraya, Fs; Kinali, M; Sherifa, H; Benrhouma, H; Turki, Iby; Tazir, M; Obeid, M; Bakhtadze, S; Saadi, Nw; Zaki, Ms; Triki, Cc; Benfenati, F; Gustincich, S; Kara, M; Belcastro, V; Specchio, N; Capovilla, G; Karimiani, Eg; Salih, Am; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Oguntunde, O; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Senkevich, K; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Haridy, N; Ramenghi, La; Xiromerisiou, G; David, E; Aguennouz, M; Fidani, L; Spanaki, C; Tucci, A.
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
2022-01-01 Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.
2008-01-01 Assereto, S; Mastrototaro, M; Stringara, S; Gazzerro, E; Broda, P; Nicchia, Gp; Svelto, M; Bruno, C; Nigro, V; Lisanti, Mp; Frigeri, A; Minetti, Carlo
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test
2015-01-01 Pane, Marika; Fanelli, Lavinia; Mazzone, Elena Stacy; Olivieri, Giorgia; D'Amico, Adele; Messina, Sonia; Scutifero, Marianna; Battini, Roberta; Petillo, Roberta; Frosini, Silvia; Sivo, Serena; Vita, Gian Luca; Bruno, Claudio; Mongini, Tiziana; Pegoraro, Elena; De Sanctis, Roberto; Gardani, Alice; Berardinelli, Angela; Lanzillotta, Valentina; Carlesi, Adelina; Viggiano, Emanuela; Cavallaro, Filippo; Sframeli, Maria; Bello, Luca; Barp, Andrea; Bianco, Flaviana; Bonfiglio, Serena; Rolle, Enrica; Palermo, Concetta; D'Angelo, Grazia; Pini, Antonella; Iotti, Elena; Gorni, Ksenija; Baranello, Giovanni; Bertini, Enrico; Politano, Luisa; Sormani, MARIA PIA; Mercuri, Eugenio
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2
2016-01-01 Fiorillo, C; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, Carlo
Body mass index in type 2 spinal muscular atrophy: a longitudinal study
2022-01-01 Ferrantini, G.; Coratti, G.; Onesimo, R.; Lucibello, S.; Bompard, S.; Turrini, I.; Cicala, G.; Caprarelli, M.; Pera, M. C.; Bravetti, C.; Berti, B.; Giorgio, V.; Bruno, C.; Brolatti, N.; Panicucci, C.; D'Amico, A.; Longo, A.; Leoni, C.; Sansone, V. A.; Albamonte, E.; Messina, S.; Sframeli, M.; Bertini, E.; Pane, M.; Mercuri, E.
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
2018-01-01 Astrea, Guja; Romano, Alessandro; Angelini, Corrado; Antozzi, Carlo Giuseppe; Barresi, Rita; Battini, Roberta; Battisti, Carla; Bertini, Enrico; Bruno, Claudio; Cassandrini, Denise; Fanin, Marina; Fattori, Fabiana; Fiorillo, Chiara; Guerrini, Renzo; Maggi, Lorenzo; Mercuri, Eugenio; Morani, Federica; Mora, Marina; Moro, Francesca; Pezzini, Ilaria; Picillo, Esther; Pinelli, Michele; Politano, Luisa; Rubegni, Anna; Sanseverino, Walter; Savarese, Marco; Striano, Pasquale; Torella, Annalaura; Trevisan, Carlo Pietro; Trovato, Rosanna; Zaraieva, Irina; Muntoni, Francesco; Nigro, Vincenzo; D'Amico, Adele; Santorelli, Filippo M.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network | 1-gen-2016 | Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Comi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele | |
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants | 1-gen-2023 | Stimpson, G.; Ramsey, D.; Wolfe, A.; Mayhew, A.; Scoto, M.; Baranello, G.; Muni Lofra, R.; Main, M.; Milev, E.; Coratti, G.; Pane, M.; Sansone, V.; D'Amico, A.; Bertini, E.; Messina, S.; Bruno, C.; Albamonte, E.; Mazzone, E. S.; Montes, J.; Glanzman, A. M.; Zolkipli-Cunningham, Z.; Pasternak, A.; Duong, T.; Dunaway Young, S.; Civitello, M.; Marini-Bettolo, C.; Day, J. W.; Darras, B. T.; De Vivo, D. C.; Finkel, R. S.; Mercuri, E.; Muntoni, F. | |
24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy | 1-gen-2013 | Mazzone, E. S.; Pane, M.; Sormani, M. P.; Scalise, R.; Berardinelli, A.; Messina, S.; Torrente, Y.; D(')Amico, A.; Doglio, L.; Viggiano, E.; D(')Ambrosio, P.; Cavallaro, F.; Frosini, S.; Bello, L.; Bonfiglio, S.; de Sanctis, R.; Rolle, E.; Bianco, F.; Magri, F.; Rossi, F.; Vasco, G.; Vita, G. L.; Motta, M. C.; Donati, M. A.; Sacchini, M.; Mongini, T.; Pini, A.; Battini, R.; Pegoraro, E.; Previtali, S.; Napolitano, S.; Bruno, C.; Politano, L.; Comi, G. P.; Bertini, E.; Mercuri, E. | |
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. | 1-gen-1995 | Bado, M; Bruno, C; Morreale, G; Parisi, F; Minetti, Carlo; Cordone, G. | |
[Muscle phosphorylase deficiency in childhood. A case report]. | 1-gen-1994 | Bruno, C; Iester, A; Bado, M; Morreale, G; Broda, P; Minetti, Carlo; Cordone, A; Cordone, G. | |
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy | 1-gen-2006 | Cassandrini, D; Calevo, Mg; Tessa, A; Manfredi, G; Fattori, F; Meschini, Mc; Carrozzo, R; Tonoli, E; Pedemonte, M; Minetti, Carlo; Zara, F; Santorelli, Fm; Bruno, C. | |
A novel missense mutation (W797R) in the myophosphorylase gene in spanish patients with McArdle disease | 1-gen-2000 | Fcmandcz, R.; Navarro, C.; Andren, A. L.; Bruno, C.; Shanskc, S.; G('a)mcz, J.; Teijcira, S.; Hem('a)ndcz, I.; Teijeiro, A.; Fern('a)ndcz, J. M.; Musumeci, O.; Dimauro, S. | |
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. | 1-gen-1999 | Bruno, C; Dirocco, M; Lamba, Ld; Bado, M; Marino, C; Tsujino, S; Shanske, S; Stella, G; Minetti, Carlo; van Diggelen, Op; Dimauro, S. | |
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. | 1-gen-2002 | Bruno, C; Biancheri, R; Garavaglia, B; Biedi, C; Rossi, A; Lamba, Ld; Bado, M; Greco, M; Zeviani, M; Minetti, Carlo | |
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies | 1-gen-2023 | Benzi, Andrea; Baratto, Serena; Astigiano, Cecilia; Sturla, Laura; Panicucci, Chiara; Mamchaoui, Kamel; Raffaghello, Lizzia; Bruzzone, Santina; Gazzerro, Elisabetta; Bruno, Claudio | |
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen | 1-gen-2021 | Coratti, G.; Pane, M.; Lucibello, S.; Pera, M. C.; Pasternak, A.; Montes, J.; Sansone, V. A.; Duong, T.; Dunaway Young, S.; Messina, S.; D'Amico, A.; Civitello, M.; Glanzman, A. M.; Bruno, C.; Salmin, F.; Tacchetti, P.; Carnicella, S.; Sframeli, M.; Antonaci, L.; Frongia, A. L.; De Vivo, D. C.; Darras, B. T.; Day, J.; Bertini, E.; Muntoni, F.; Finkel, R.; Mercuri, E. | |
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy | 1-gen-2022 | Coratti, G.; Lenkowicz, J.; Norcia, G.; Lucibello, S.; Ferraroli, E.; D'Amico, A.; Bello, L.; Pegoraro, E.; Messina, S.; Ricci, F.; Mongini, T.; Berardinelli, A.; Masson, R.; Previtali, S. C.; D'Angelo, G.; Magri, F.; Comi, G. P.; Politano, L.; Passamano, L.; Vita, G.; Sansone, V. A.; Albamonte, E.; Panicucci, C.; Bruno, C.; Pini, A.; Bertini, E.; Patarnello, S.; Pane, M.; Mercuri, E.; Fanelli, L.; Forcina, N.; Stanca, G.; Carnicella, S.; De Sanctis, R.; Brogna, C.; Cutrona, C.; Frongia, A. L.; Pera, M. C.; Antonaci, L.; Ferrantini, G.; Berti, B.; Leone, D.; Palermo, C.; Giannotta, M.; Colia, G.; Carlesi, A.; De Luca, G.; Mizzoni, I.; Bonetti, A.; Catteruccia, M.; Di Bella, V.; Sframeli, M.; Russo, M.; Rolle, E.; Gardani, A.; Parravicini, S.; Zanin, R.; Arnoldi, M. T.; Dosi, C.; Pedrinelli, I.; Baranello, G.; Albamonte, E.; Salmin, F.; Morando, S. | |
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency. | 1-gen-2011 | Fanin, M; Anichini, A; Cassandrini, D; Fiorillo, C; Scapolan, S; Minetti, Carlo; Cassanello, M; Donati, M; Siciliano, G; D'Amico, A; Lilliu, F; Bruno, C; Angelini, C. | |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders | 1-gen-2019 | Salpietro, V; Dixon, Cl; Guo, H; Bello, Od; Vandrovcova, J; Efthymiou, S; Maroofian, R; Heimer, G; Burglen, L; Valence, S; Torti, E; Hacke, M; Rankin, J; Tariq, H; Colin, E; Procaccio, V; Striano, P; Mankad, K; Lieb, A; Chen, S; Pisani, L; Bettencourt, C; Männikkö, R; Manole, A; Brusco, A; Grosso, E; Ferrero, Gb; Armstrong-Moron, J; Gueden, S; Bar-Yosef, O; Tzadok, M; Monaghan, Kg; Santiago-Sim, T; Person, Re; Cho, Mt; Willaert, R; Yoo, Y; Chae, Jh; Quan, Y; Wu, H; Wang, T; Bernier, Ra; Xia, K; Blesson, A; Jain, M; Motazacker, Mm; Jaeger, B; Schneider, Al; Boysen, K; Muir, Am; Myers, Ct; Gavrilova, Rh; Gunderson, L; Schultz-Rogers, L; Klee, Ew; Dyment, D; Osmond, M; Parellada, M; Llorente, C; Gonzalez-Peñas, J; Carracedo, A; Van Haeringen, A; Ruivenkamp, C; Nava, C; Heron, D; Nardello, R; Iacomino, M; Minetti, C; Skabar, A; Fabretto, A; SYNAPS Study, Group; Raspall-Chaure, M; Chez, M; Tsai, A; Fassi, E; Shinawi, M; Constantino, Jn; De Zorzi, R; Fortuna, S; Kok, F; Keren, B; Bonneau, D; Choi, M; Benzeev, B; Zara, F; Mefford, Hc; Scheffer, Ie; Clayton-Smith, J; Macaya, A; Rothman, Je; Eichler, Ee; Kullmann, Dm; Houlden, H; Hanna, Mg; Bugiardini, E; Hostettler, I; O'Callaghan, B; Khan, A; Cortese, A; O'Connor, E; Yau, Wy; Bourinaris, T; Kaiyrzhanov, R; Chelban, V; Madej, M; Diana, Mc; Vari, Ms; Pedemonte, M; Bruno, C; Balagura, G; Scala, M; Fiorillo, C; Nobili, L; Malintan, Nt; Zanetti, Mn; Krishnakumar, Ss; Lignani, G; Jepson, Jec; Broda, P; Baldassari, S; Rossi, P; Fruscione, F; Madia, F; Traverso, M; De-Marco, P; Pérez-Dueñas, B; Munell, F; Kriouile, Y; El-Khorassani, M; Karashova, B; Avdjieva, D; Kathom, H; Tincheva, R; Van-Maldergem, L; Nachbauer, W; Boesch, S; Gagliano, A; Amadori, E; Goraya, Js; Sultan, T; Kirmani, S; Ibrahim, S; Jan, F; Mine, J; Banu, S; Veggiotti, P; Zuccotti, Gv; Ferrari, Md; Van Den Maagdenberg, Amj; Verrotti, A; Marseglia, Gl; Savasta, S; Soler, Ma; Scuderi, C; Borgione, E; Chimenz, R; Gitto, E; Dipasquale, V; Sallemi, A; Fusco, M; Cuppari, C; Cutrupi, Mc; Ruggieri, M; Cama, A; Capra, V; Mencacci, Ne; Boles, R; Gupta, N; Kabra, M; Papacostas, S; Zamba-Papanicolaou, E; Dardiotis, E; Maqbool, S; Rana, N; Atawneh, O; Lim, Sy; Shaikh, F; Koutsis, G; Breza, M; Coviello, Da; Dauvilliers, Ya; Alkhawaja, I; Alkhawaja, M; Al-Mutairi, F; Stojkovic, T; Ferrucci, V; Zollo, M; Alkuraya, Fs; Kinali, M; Sherifa, H; Benrhouma, H; Turki, Iby; Tazir, M; Obeid, M; Bakhtadze, S; Saadi, Nw; Zaki, Ms; Triki, Cc; Benfenati, F; Gustincich, S; Kara, M; Belcastro, V; Specchio, N; Capovilla, G; Karimiani, Eg; Salih, Am; Okubadejo, Nu; Ojo, Oo; Oshinaike, Oo; Oguntunde, O; Wahab, K; Bello, Ah; Abubakar, S; Obiabo, Y; Nwazor, E; Ekenze, O; Williams, U; Iyagba, A; Taiwo, L; Komolafe, M; Senkevich, K; Shashkin, C; Zharkynbekova, N; Koneyev, K; Manizha, G; Isrofilov, M; Guliyeva, U; Salayev, K; Khachatryan, S; Rossi, S; Silvestri, G; Haridy, N; Ramenghi, La; Xiromerisiou, G; David, E; Aguennouz, M; Fidani, L; Spanaki, C; Tucci, A. | |
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia | 1-gen-2022 | Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia | |
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. | 1-gen-2008 | Assereto, S; Mastrototaro, M; Stringara, S; Gazzerro, E; Broda, P; Nicchia, Gp; Svelto, M; Bruno, C; Nigro, V; Lisanti, Mp; Frigeri, A; Minetti, Carlo | |
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test | 1-gen-2015 | Pane, Marika; Fanelli, Lavinia; Mazzone, Elena Stacy; Olivieri, Giorgia; D'Amico, Adele; Messina, Sonia; Scutifero, Marianna; Battini, Roberta; Petillo, Roberta; Frosini, Silvia; Sivo, Serena; Vita, Gian Luca; Bruno, Claudio; Mongini, Tiziana; Pegoraro, Elena; De Sanctis, Roberto; Gardani, Alice; Berardinelli, Angela; Lanzillotta, Valentina; Carlesi, Adelina; Viggiano, Emanuela; Cavallaro, Filippo; Sframeli, Maria; Bello, Luca; Barp, Andrea; Bianco, Flaviana; Bonfiglio, Serena; Rolle, Enrica; Palermo, Concetta; D'Angelo, Grazia; Pini, Antonella; Iotti, Elena; Gorni, Ksenija; Baranello, Giovanni; Bertini, Enrico; Politano, Luisa; Sormani, MARIA PIA; Mercuri, Eugenio | |
Beyond spinal muscular atrophy with lower extremity dominance: Cerebellar hypoplasia associated with a novel mutation in BICD2 | 1-gen-2016 | Fiorillo, C; Moro, F.; Brisca, G.; Accogli, A.; Trucco, F.; Trovato, R.; Pedemonte, M.; Severino, M.; Catala, M.; Capra, V.; Santorelli, F. M.; Bruno, C.; Rossi, A.; Minetti, Carlo | |
Body mass index in type 2 spinal muscular atrophy: a longitudinal study | 1-gen-2022 | Ferrantini, G.; Coratti, G.; Onesimo, R.; Lucibello, S.; Bompard, S.; Turrini, I.; Cicala, G.; Caprarelli, M.; Pera, M. C.; Bravetti, C.; Berti, B.; Giorgio, V.; Bruno, C.; Brolatti, N.; Panicucci, C.; D'Amico, A.; Longo, A.; Leoni, C.; Sansone, V. A.; Albamonte, E.; Messina, S.; Sframeli, M.; Bertini, E.; Pane, M.; Mercuri, E. | |
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study | 1-gen-2018 | Astrea, Guja; Romano, Alessandro; Angelini, Corrado; Antozzi, Carlo Giuseppe; Barresi, Rita; Battini, Roberta; Battisti, Carla; Bertini, Enrico; Bruno, Claudio; Cassandrini, Denise; Fanin, Marina; Fattori, Fabiana; Fiorillo, Chiara; Guerrini, Renzo; Maggi, Lorenzo; Mercuri, Eugenio; Morani, Federica; Mora, Marina; Moro, Francesca; Pezzini, Ilaria; Picillo, Esther; Pinelli, Michele; Politano, Luisa; Rubegni, Anna; Sanseverino, Walter; Savarese, Marco; Striano, Pasquale; Torella, Annalaura; Trevisan, Carlo Pietro; Trovato, Rosanna; Zaraieva, Irina; Muntoni, Francesco; Nigro, Vincenzo; D'Amico, Adele; Santorelli, Filippo M. |