BOLINO, ALESSANDRA
BOLINO, ALESSANDRA
Facoltà di Medicina e Chirurgia
118th ENMC international workshop on advances in myotubular myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th workshop of the international consortium on myotubular myopathy)
2004-01-01 Bertini, E.; Biancalana, V.; Bolino, A.; Buj Bello, A.; Clague, M.; Guicheney, P.; Jungbluth, H.; Kress, W.; Musaro', A.; Nandurkar, H.; Pirola, L.; Romero, N.; Senderek, J.; Suter, U.; Sewry, C.; Tronchere, H.; Wallgren-Pettersson, C.; Wishart, M. J.; Laporte, J.
A common molecular basis for three inherited kidney stone diseases
1996-01-01 Lloyd, Se; Pearce, Shs; Fisher, Se; Steinmeyer, K; Schwappach, B; Scheinman, Sj; Harding, B; Bolino, A; Devoto, M; Goodyer, P; Rigden, Spa; Wrong, O; Jentsch, Tj; Craig, Iw; Thakker, Rv
A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10
1993-01-01 Lyonnet, S; Bolino, A; Pelet, A; Abel, L; Nihoulfekete, C; Briard, Ml; Moksiu, V; Kaariainen, H; Martucciello, G; Lerone, M; Puliti, A; Luo, Y; Weissenbach, J; Devoto, M; Munnich, A; Romeo, G
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY
2016-01-01 Previtali, Sc; Fabrizi, Gm; Manganelli, F; Mazzeo, A; Pareyson, D; Schenone, A; Taroni, F; Vita, G; Bellone, E; Ferrarini, M; Magri, S; Scarlato, M; Riva, N; Lunetta, C; Carrera, P; Bucci, G; Mandich, P; Penco, S; Lazarevic, D; Cittaro, D; Jordanova, A; Reilly, Mm; Casari, GIORGIO NEVIO; Ferrari, M; Comi, Giancarlo; Bolino, A.
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
2019-01-01 Pareyson, D.; Stojkovic, T.; Reilly, M. M.; Leonard-Louis, S.; Laura, M.; Blake, J.; Parman, Y.; Battaloglu, E.; Tazir, M.; Bellatache, M.; Bonello-Palot, N.; Levy, N.; Sacconi, S.; Guimaraes-Costa, R.; Attarian, S.; Latour, P.; Sole, G.; Megarbane, A.; Horvath, R.; Ricci, G.; Choi, B. -O.; Schenone, A.; Gemelli, C.; Geroldi, A.; Sabatelli, M.; Luigetti, M.; Santoro, L.; Manganelli, F.; Quattrone, A.; Valentino, P.; Murakami, T.; Scherer, S. S.; Dankwa, L.; Shy, M. E.; Bacon, C. J.; Herrmann, D. N.; Zambon, A.; Tramacere, I.; Pisciotta, C.; Magri, S.; Previtali, S. C.; Bolino, A.
A new candidate region for the positional cloning of the XLP gene
1998-01-01 Bolino, A; Yin, L; Seri, M; Cusano, R; Cinti, R; Coffey, A; Brooksbank, R; Howell, G; Bentley, D; Davis, Jr; Lanyi, A; Huang, Dl; Stark, M; Creaven, M; Bjorkhaug, L; Heitzmann, F; Lamartine, J; Gaudi, S; Sylla, Bs; Lenoir, Gm; Castagnola, E; Giacchino, R; Porta, G; Franco, B; Zollo, M; Sumegi, J; Romeo, G
A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION
1993-01-01 Devoto, M; Bolino, A; Enia, G; Zoccali, C; Romeo, G
A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE
1993-01-01 Enia, G; Zoccali, C; Bolino, A; Romeo, G
A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2
2015-01-01 Scarlato, M; Vigano, F; Carrera, P; Previtali, Sc; Bolino, A
A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'
2013-01-01 Luigetti, M; Bolino, A; Scarlino, S; Sabatelli, M
Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis
2010-01-01 Benedetti, S; Previtali, Sc; Coviello, S; Scarlato, M; Cerri, F; DI PIERRI, E; Piantoni, L; Spiga, I; Fazio, R; Riva, N; NATALI SORA, Mg; Dacci, P; Malaguti, Mc; Munerati, E; Grimaldi, Lm; Marrosu, Mg; DE PELLEGRIN, M; Ferrari, Maurizio; Comi, Giancarlo; Quattrini, A; Bolino, A.
AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES
2017-01-01 Grandi, F; Alberizzi, V; Moreno, G; Guerrero-Valero, M; Bolino, A
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family
1996-01-01 Quattrone, A; Gambardella, A; Bono, F; Aguglia, U; Bolino, A; Bruni, Ac; Montesi, Mp; Oliveri, Rl; Sabatelli, M; Tamburrini, O; Valentino, P; Vanbroeckhoven, C; Zappia, M
CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY
2017-01-01 Pareyson, D; Stojkovic, T; Leonard-Louis, S; Reilly, Mm; Laura, M; Parman, Y; Battaloglu, E; Tazir, M; Bellatache, M; Bonello-Palot, N; Sacconi, S; Guimaraes-Costa, R; Attarian, S; Latour, P; Megarbane, A; Schenone, A; Ursino, G; Sabatelli, M; Luigetti, M; Santoro, L; Manganelli, F; Quattrone, A; Valentino, P; Murakami, T; Scherer, Ss; Dankwa, L; Shy, Me; Herrmann, D; Pisciotta, C; Previtali, S; Bolino, A
Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases
2007-01-01 Previtali, S; Quattrini, A; Bolino, A
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
2000-01-01 Bolino, A; Muglia, M; Conforti, Fl; Leguern, E; Salih, Mam; Georgiou, Dm; Christodoulou, K; Hausmanowa-Petrusewicz, I; Mandich, P; Schenone, A; Gambardella, A; Bono, F; Quattrone, A; Devoto, M; Monaco, Ap
CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY
2013-01-01 Riva, N; Scarlato, M; Scarlino, S; Del Bo, R; Comi, Gp; Corbo, M; Penco, S; Ferrari, M; Foglio, A; Grimaldi, Lm; Comi, G; Nobile-Orazio, E; Marrosu, Mg; Del Carro, U; Gerevini, S; Fazio, R; Quattrini, A; Bolino, A; Previtali, Sc
CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION
2013-01-01 Scarlato, M; Del Carro, U; Jordanova, A; Timmerman, V; Scarlino, S; Bolino, A; Quattrini, A; Fazio, R; Comi, G; Previtali, Sc
CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE
1991-01-01 Baldini, A; Archidiacono, N; Carbone, R; Bolino, A; Shridhar, V; Miller, O; Miller, Da; Ward, Dc; Rocchi, M
Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy
2015-01-01 Ricca, A; Rufo, N; Ungari, S; Morena, F; Martino, S; Kulik, W; Alberizzi, V; Bolino, A; Bianchi, F; Del Carro, U; Biffi, A; Gritti, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 118th ENMC international workshop on advances in myotubular myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th workshop of the international consortium on myotubular myopathy) | 1-gen-2004 | Bertini, E.; Biancalana, V.; Bolino, A.; Buj Bello, A.; Clague, M.; Guicheney, P.; Jungbluth, H.; Kress, W.; Musaro', A.; Nandurkar, H.; Pirola, L.; Romero, N.; Senderek, J.; Suter, U.; Sewry, C.; Tronchere, H.; Wallgren-Pettersson, C.; Wishart, M. J.; Laporte, J. | |
| A common molecular basis for three inherited kidney stone diseases | 1-gen-1996 | Lloyd, Se; Pearce, Shs; Fisher, Se; Steinmeyer, K; Schwappach, B; Scheinman, Sj; Harding, B; Bolino, A; Devoto, M; Goodyer, P; Rigden, Spa; Wrong, O; Jentsch, Tj; Craig, Iw; Thakker, Rv | |
| A GENE FOR HIRSCHSPRUNG DISEASE MAPS TO THE PROXIMAL LONG ARM OF CHROMOSOME-10 | 1-gen-1993 | Lyonnet, S; Bolino, A; Pelet, A; Abel, L; Nihoulfekete, C; Briard, Ml; Moksiu, V; Kaariainen, H; Martucciello, G; Lerone, M; Puliti, A; Luo, Y; Weissenbach, J; Devoto, M; Munnich, A; Romeo, G | |
| A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY | 1-gen-2016 | Previtali, Sc; Fabrizi, Gm; Manganelli, F; Mazzeo, A; Pareyson, D; Schenone, A; Taroni, F; Vita, G; Bellone, E; Ferrarini, M; Magri, S; Scarlato, M; Riva, N; Lunetta, C; Carrera, P; Bucci, G; Mandich, P; Penco, S; Lazarevic, D; Cittaro, D; Jordanova, A; Reilly, Mm; Casari, GIORGIO NEVIO; Ferrari, M; Comi, Giancarlo; Bolino, A. | |
| A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs) | 1-gen-2019 | Pareyson, D.; Stojkovic, T.; Reilly, M. M.; Leonard-Louis, S.; Laura, M.; Blake, J.; Parman, Y.; Battaloglu, E.; Tazir, M.; Bellatache, M.; Bonello-Palot, N.; Levy, N.; Sacconi, S.; Guimaraes-Costa, R.; Attarian, S.; Latour, P.; Sole, G.; Megarbane, A.; Horvath, R.; Ricci, G.; Choi, B. -O.; Schenone, A.; Gemelli, C.; Geroldi, A.; Sabatelli, M.; Luigetti, M.; Santoro, L.; Manganelli, F.; Quattrone, A.; Valentino, P.; Murakami, T.; Scherer, S. S.; Dankwa, L.; Shy, M. E.; Bacon, C. J.; Herrmann, D. N.; Zambon, A.; Tramacere, I.; Pisciotta, C.; Magri, S.; Previtali, S. C.; Bolino, A. | |
| A new candidate region for the positional cloning of the XLP gene | 1-gen-1998 | Bolino, A; Yin, L; Seri, M; Cusano, R; Cinti, R; Coffey, A; Brooksbank, R; Howell, G; Bentley, D; Davis, Jr; Lanyi, A; Huang, Dl; Stark, M; Creaven, M; Bjorkhaug, L; Heitzmann, F; Lamartine, J; Gaudi, S; Sylla, Bs; Lenoir, Gm; Castagnola, E; Giacchino, R; Porta, G; Franco, B; Zollo, M; Sumegi, J; Romeo, G | |
| A NEW FORM OF X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA (HPDR-II) MAPS IN THE XP11 REGION | 1-gen-1993 | Devoto, M; Bolino, A; Enia, G; Zoccali, C; Romeo, G | |
| A NEW X-LINKED HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA LEADING TO PROGRESSIVE RENAL-FAILURE | 1-gen-1993 | Enia, G; Zoccali, C; Bolino, A; Romeo, G | |
| A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2 | 1-gen-2015 | Scarlato, M; Vigano, F; Carrera, P; Previtali, Sc; Bolino, A | |
| A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy' | 1-gen-2013 | Luigetti, M; Bolino, A; Scarlino, S; Sabatelli, M | |
| Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis | 1-gen-2010 | Benedetti, S; Previtali, Sc; Coviello, S; Scarlato, M; Cerri, F; DI PIERRI, E; Piantoni, L; Spiga, I; Fazio, R; Riva, N; NATALI SORA, Mg; Dacci, P; Malaguti, Mc; Munerati, E; Grimaldi, Lm; Marrosu, Mg; DE PELLEGRIN, M; Ferrari, Maurizio; Comi, Giancarlo; Quattrini, A; Bolino, A. | |
| AUTOPHAGY INDUCTION AS A THERAPEUTIC STRATEGY FOR DEMYELINATING CMT1A NEUROPATHIES | 1-gen-2017 | Grandi, F; Alberizzi, V; Moreno, G; Guerrero-Valero, M; Bolino, A | |
| Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family | 1-gen-1996 | Quattrone, A; Gambardella, A; Bono, F; Aguglia, U; Bolino, A; Bruni, Ac; Montesi, Mp; Oliveri, Rl; Sabatelli, M; Tamburrini, O; Valentino, P; Vanbroeckhoven, C; Zappia, M | |
| CHARCOT-MARIE-TOOTH DISEASE TYPE 4B: A MULTICENTRE RETROSPECTIVE STUDY | 1-gen-2017 | Pareyson, D; Stojkovic, T; Leonard-Louis, S; Reilly, Mm; Laura, M; Parman, Y; Battaloglu, E; Tazir, M; Bellatache, M; Bonello-Palot, N; Sacconi, S; Guimaraes-Costa, R; Attarian, S; Latour, P; Megarbane, A; Schenone, A; Ursino, G; Sabatelli, M; Luigetti, M; Santoro, L; Manganelli, F; Quattrone, A; Valentino, P; Murakami, T; Scherer, Ss; Dankwa, L; Shy, Me; Herrmann, D; Pisciotta, C; Previtali, S; Bolino, A | |
| Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases | 1-gen-2007 | Previtali, S; Quattrini, A; Bolino, A | |
| Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 | 1-gen-2000 | Bolino, A; Muglia, M; Conforti, Fl; Leguern, E; Salih, Mam; Georgiou, Dm; Christodoulou, K; Hausmanowa-Petrusewicz, I; Mandich, P; Schenone, A; Gambardella, A; Bono, F; Quattrone, A; Devoto, M; Monaco, Ap | |
| CLINICAL AND MOLECULAR CHARACTERIZATION OF A COHORT OF PATIENTS WITH DISTAL MOTOR NEUROPATHY | 1-gen-2013 | Riva, N; Scarlato, M; Scarlino, S; Del Bo, R; Comi, Gp; Corbo, M; Penco, S; Ferrari, M; Foglio, A; Grimaldi, Lm; Comi, G; Nobile-Orazio, E; Marrosu, Mg; Del Carro, U; Gerevini, S; Fazio, R; Quattrini, A; Bolino, A; Previtali, Sc | |
| CLINICAL CHARACTERIZATION OF A PATIENT CARRYING HINT1 MUTATION | 1-gen-2013 | Scarlato, M; Del Carro, U; Jordanova, A; Timmerman, V; Scarlino, S; Bolino, A; Quattrini, A; Fazio, R; Comi, G; Previtali, Sc | |
| CLONING AND COMPARATIVE MAPPING OF A CHROMOSOME-20-SPECIFIC ALPHOID DNA-SEQUENCE | 1-gen-1991 | Baldini, A; Archidiacono, N; Carbone, R; Bolino, A; Shridhar, V; Miller, O; Miller, Da; Ward, Dc; Rocchi, M | |
| Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy | 1-gen-2015 | Ricca, A; Rufo, N; Ungari, S; Morena, F; Martino, S; Kulik, W; Alberizzi, V; Bolino, A; Bianchi, F; Del Carro, U; Biffi, A; Gritti, A |