MINETTI, CARLO
MINETTI, CARLO
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftamologia, Genetica e Scienze Materno-Infantili
A clinical and genetic study of 33 new cases with early-onset absence epilepsy.
2011-01-01 Giordano, L; Vignoli, A; Accorsi, P; Galli, J; Pezzella, Marianna; Traverso, M; Battaglia, S; Baglietto, MARIA GIUSEPPINA; Beccaria, F; Cerminara, C; Gambara, S; Del Giudice, E; Crichiutti, G; Bisulli, F; Pinci, M; Tinuper, P; Briatore, E; Calzolari, S; Coppola, A; Canevini, Mp; Capovilla, G; Striano, S; Zara, F; Minetti, Carlo; Striano, Pasquale
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 hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes
2002-01-01 Carbone, I; Cotellessa, Mario; Barella, C; Minetti, Carlo; Ghiggeri, Gm; Caridi, G; Perfumo, F; Lorini, RENATA GIUSEPPINA
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
A novel SCN2A mutation in family with benign familial infantile seizures.
2006-01-01 Striano, Pasquale; Bordo, L.; Lispi, M. L.; Specchio, N.; Minetti, Carlo; Vigevano, F.; Zara, F.
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy
2019-01-01 Scala, M.; Amadori, E.; Fusco, L.; Marchese, F.; Capra, V.; Minetti, C.; Vari, M. S.; Striano, P.
Abnormalities in the expression of beta-spectrin in Duchenne muscular dystrophy.
1994-01-01 Minetti, Carlo; Tanji, K; Rippa, Pg; Morreale, G; Cordone, G; Bonilla, E.
[Acute iatrogenic myopathy during treatment of status asthmaticus. Our experience and review of the literature].
1997-01-01 Pacini, D; Ferretti, M; Carletti, A; Cerana, M; De Rito, M; Doveri, A; Abbruzzese, M; Primavera, A; Minetti, Carlo
Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both.
1992-01-01 Hirano, M; Ott, Br; Raps, Ec; Minetti, Carlo; Lennihan, L; Libbey, Np; Bonilla, E; Hays, Ap
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.
Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy.
2004-01-01 Graziano, C; Bertini, E; Minetti, Carlo; Porfirio, B.
Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies
2017-01-01 Santolini, Ines; Celli, Roberta; Cannella, Milena; Imbriglio, Tiziana; Guiducci, Michela; Parisi, Pasquale; Schubert, Julian; Iacomino, Michele; Zara, Federico; Lerche, Holger; Moyanova, Slavianka; Ngomba, Richard Teke; van Luijtelaar, Gilles; Battaglia, Giuseppe; Bruno, Valeria; Striano, Pasquale; Nicoletti, Ferdinando; Palotie, Aarno; Folkhälsan, Anna-Elina Lehesjoki; Ruppert, Ann-Kathrin; Siren, Auli; Koeleman, Bobby; Lal, Dennis; Becker, Felicitas; Caglayan, Hande; Hjalgrim, Helle; Muhle, Hiltrud; Thiele, Holger; Helbig, Ingo; Altmuller, Janine; Jabbari, Kamel; Everett, Kate; May, Patrick; Nurnberg, Peter; Møller, Rikke; Nabbout, Rima; Krause, Roland; Balling, Rudi; Baulac, Stephanie; Sander, Thomas; Kunz, Wolfram; Weber, Yvonne; Bianchi, Amedeo; La Neve, Angela; Coppola, Antonietta; Striano, Salvatore; Capovilla, Giuseppe; Ferlazzo, Edoardo; Bagnasco, Irene; Ferretti, Alessandro; Di Bonaventura, Carlo; Vari, Maria Stella; Pinto, Francesca; Bisulli, Francesca; Tinuper, Paolo; Minetti, Carlo; Belcastro, Vincenzo; Giordano, Lucio; Gambardella, Antonio
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.
Anterior chest wall deformities in children with neurofibromatosis type 1
In corso di stampa Chelleri, C.; Guerriero, V.; Torre, M.; Brolatti, N.; Piccolo, G.; Mattioli, G.; Boero, S.; Minetti, C.; Diana, M. C.
Antiepileptic drugs under investigation for treatment of focal epilepsy
2016-01-01 Striano, Pasquale; Belcastro, Vincenzo; Coppola, Antonietta; Minetti, Carlo; Striano, Salvatore
Apoptotic myonuclei in human Duchenne muscular dystrophy
1998-01-01 Sandri, M; Minetti, Carlo; Pedemonte, M; Carraro, U.
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
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients.
2009-01-01 Errichiello, L.; Perruolo, G.; Pascarella, A.; Formisano, P.; Minetti, Carlo; Striano, S.; Zara, F.; Striano, Pasquale
'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin?
2012-01-01 Striano, Pasquale; Minetti, Carlo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A clinical and genetic study of 33 new cases with early-onset absence epilepsy. | 1-gen-2011 | Giordano, L; Vignoli, A; Accorsi, P; Galli, J; Pezzella, Marianna; Traverso, M; Battaglia, S; Baglietto, MARIA GIUSEPPINA; Beccaria, F; Cerminara, C; Gambara, S; Del Giudice, E; Crichiutti, G; Bisulli, F; Pinci, M; Tinuper, P; Briatore, E; Calzolari, S; Coppola, A; Canevini, Mp; Capovilla, G; Striano, S; Zara, F; Minetti, Carlo; Striano, Pasquale | |
| 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 hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes | 1-gen-2002 | Carbone, I; Cotellessa, Mario; Barella, C; Minetti, Carlo; Ghiggeri, Gm; Caridi, G; Perfumo, F; Lorini, RENATA GIUSEPPINA | |
| 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 | |
| A novel SCN2A mutation in family with benign familial infantile seizures. | 1-gen-2006 | Striano, Pasquale; Bordo, L.; Lispi, M. L.; Specchio, N.; Minetti, Carlo; Vigevano, F.; Zara, F. | |
| Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy | 1-gen-2019 | Scala, M.; Amadori, E.; Fusco, L.; Marchese, F.; Capra, V.; Minetti, C.; Vari, M. S.; Striano, P. | |
| Abnormalities in the expression of beta-spectrin in Duchenne muscular dystrophy. | 1-gen-1994 | Minetti, Carlo; Tanji, K; Rippa, Pg; Morreale, G; Cordone, G; Bonilla, E. | |
| [Acute iatrogenic myopathy during treatment of status asthmaticus. Our experience and review of the literature]. | 1-gen-1997 | Pacini, D; Ferretti, M; Carletti, A; Cerana, M; De Rito, M; Doveri, A; Abbruzzese, M; Primavera, A; Minetti, Carlo | |
| Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both. | 1-gen-1992 | Hirano, M; Ott, Br; Raps, Ec; Minetti, Carlo; Lennihan, L; Libbey, Np; Bonilla, E; Hays, Ap | |
| 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. | |
| Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy. | 1-gen-2004 | Graziano, C; Bertini, E; Minetti, Carlo; Porfirio, B. | |
| Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies | 1-gen-2017 | Santolini, Ines; Celli, Roberta; Cannella, Milena; Imbriglio, Tiziana; Guiducci, Michela; Parisi, Pasquale; Schubert, Julian; Iacomino, Michele; Zara, Federico; Lerche, Holger; Moyanova, Slavianka; Ngomba, Richard Teke; van Luijtelaar, Gilles; Battaglia, Giuseppe; Bruno, Valeria; Striano, Pasquale; Nicoletti, Ferdinando; Palotie, Aarno; Folkhälsan, Anna-Elina Lehesjoki; Ruppert, Ann-Kathrin; Siren, Auli; Koeleman, Bobby; Lal, Dennis; Becker, Felicitas; Caglayan, Hande; Hjalgrim, Helle; Muhle, Hiltrud; Thiele, Holger; Helbig, Ingo; Altmuller, Janine; Jabbari, Kamel; Everett, Kate; May, Patrick; Nurnberg, Peter; Møller, Rikke; Nabbout, Rima; Krause, Roland; Balling, Rudi; Baulac, Stephanie; Sander, Thomas; Kunz, Wolfram; Weber, Yvonne; Bianchi, Amedeo; La Neve, Angela; Coppola, Antonietta; Striano, Salvatore; Capovilla, Giuseppe; Ferlazzo, Edoardo; Bagnasco, Irene; Ferretti, Alessandro; Di Bonaventura, Carlo; Vari, Maria Stella; Pinto, Francesca; Bisulli, Francesca; Tinuper, Paolo; Minetti, Carlo; Belcastro, Vincenzo; Giordano, Lucio; Gambardella, Antonio | |
| 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. | |
| Anterior chest wall deformities in children with neurofibromatosis type 1 | In corso di stampa | Chelleri, C.; Guerriero, V.; Torre, M.; Brolatti, N.; Piccolo, G.; Mattioli, G.; Boero, S.; Minetti, C.; Diana, M. C. | |
| Antiepileptic drugs under investigation for treatment of focal epilepsy | 1-gen-2016 | Striano, Pasquale; Belcastro, Vincenzo; Coppola, Antonietta; Minetti, Carlo; Striano, Salvatore | |
| Apoptotic myonuclei in human Duchenne muscular dystrophy | 1-gen-1998 | Sandri, M; Minetti, Carlo; Pedemonte, M; Carraro, U. | |
| 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 | |
| Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. | 1-gen-2009 | Errichiello, L.; Perruolo, G.; Pascarella, A.; Formisano, P.; Minetti, Carlo; Striano, S.; Zara, F.; Striano, Pasquale | |
| 'Autoimmune epilepsy' or exasperated search for the etiology of seizures of unknown origin? | 1-gen-2012 | Striano, Pasquale; Minetti, Carlo |