Sfoglia per Autore
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease
2008-01-01 Mandich, Paola; Grandis, Marina; Geroldi, Alessandro; M., Acquaviva; A., Varese; R., Gulli; P., Ciotti; Bellone, Emilia
Two families with novel PMP22 point mutations: genotype-phenotype correlation.
2009-01-01 Pisciotta, C; Manganelli, F; Iodice, R; Bellone, Emilia; Geroldi, Alessandro; Volpi, N; Mandich, Paola; Santoro, L.
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients
2011-01-01 Capponi, Simona; Geroldi, Alessandro; Fossa, Paola; Grandis, Marina; Paola, Ciotti; Rossella, Gulli; Schenone, Angelo; Mandich, Paola; Bellone, Emilia
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
2012-01-01 Manganelli, F; Pisciotta, C; Nolano, M; Capponi, Simona; Geroldi, Alessandro; Topa, A; Bellone, Emilia; Suls, A; Mandich, Paola; Santoro, L.
Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation.
2012-01-01 Origone, Paola; Caponnetto, C; Mantero, V; Cichero, Elena; Fossa, Paola; Geroldi, Alessandro; Verdiani, Simonetta; Bellone, Emilia; Mancardi, GIOVANNI LUIGI; Mandich, Paola
The FIG4 gene does not play a major role in causing ALS in Italian patients.
2013-01-01 Verdiani, Simonetta; Origone, Paola; Geroldi, Alessandro; Bandettini Di Poggio, M; Mantero, V; Bellone, Emilia; Mancardi, GIOVANNI LUIGI; Caponnetto, C; Mandich, Paola
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149.
2014-01-01 Palmieri, Daniela; Capponi, Simona; Geroldi, Alessandro; Mura, Marzia; Mandich, Paola; Palombo, Domenico
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.
2014-01-01 Ciotti, P; Luigetti, M; Geroldi, Alessandro; Capponi, Simona; Pezzini, I; Gulli, R; Pazzaglia, C; Padua, L; Massa, R; Mandich, Paola; Bellone, Emilia
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
2014-01-01 Manganelli, F; Tozza, S; Pisciotta, C; Bellone, Emilia; Iodice, R; Nolano, M; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, L.
Contribution of copy number variations in CMT1X: a retrospective study.
2015-01-01 Capponi, Simona; Geroldi, Alessandro; Pezzini, I; Gulli, Rossella; Ciotti, Paola; Ursino, Giulia; Lamp, Merit; Reni, L; Schenone, Angelo; Grandis, Marina; Mandich, Paola; Bellone, Emilia
Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy
2015-01-01 Visigalli, Davide; Castagnola, Patrizio; Capodivento, Giovanna; Geroldi, Alessandro; Bellone, Emilia; Mancardi, Gianluigi; Pareyson, Davide; Schenone, Angelo; Nobbio, Lucilla
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1
2016-01-01 Capponi, Simona; Geuens, Thomas; Geroldi, Alessandro; Origone, Paola; Verdiani, Simonetta; Cichero, Elena; Adriaenssens, Elias; De Winter, Vicky; BANDETTINI DI POGGIO, MONICA LAURA; Barberis, Marco; Chiò, Adriano; Fossa, Paola; Mandich, Paola; Bellone, Emilia; Timmerman, Vincent
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course
2016-01-01 Pezzini, I; Geroldi, Alessandro; Capponi, Simona; Gulli, Rossella; Schenone, Angelo; Grandis, Marina; Doria Lamba, L; La Piana, C; Cremonte, M; Pisciotta, C; Nolano, M; Manganelli, F; Santoro, L; Mandich, Paola; Bellone, Emilia
Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.
2017-01-01 Geroldi, Alessandro; Lastella, P; Patruno, M; Gotta, Fabio; Resta, N; Devigili, G; Sabbà, C; Gulli, Rossella; Lamp, Merit; Origone, Paola; Mandich, Paola; Bellone, Emilia
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene
2017-01-01 Fortunato, Fernanda; Neri, Marcella; Geroldi, Alessandro; Bellone, Emilia; De Grandis, Domenico; Ferlini, Alessandra; Gualandi, Francesca
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"
2018-01-01 Grandis, M; Geroldi, A; Gulli, R; Manganelli, F; Gotta, F; Lamp, M; Origone, P; Trevisan, L; Gemelli, C; Fabbri, S; Schenone, A; Tozza, S; Santoro, L; Bellone, E; Mandich, P.
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier.
2018-01-01 Origone, P; Gotta, F; Lamp, M; Trevisan, L; Geroldi, A; Massucco, D; Grazzini, M; Massa, F; Ticconi, F; Bauckneht, M; Marchese, R; Abbruzzese, G; Bellone, E; Mandich, P.
Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients
2018-01-01 Lamp, M; Origone, P; Geroldi, A; Verdiani, S; Gotta, F; Caponnetto, C; Devigili, G; Verriello, L; Scialò, C; Cabona, C; Canosa, A; Vanni, I; Bellone, E; Eleopra, R; Mandich, P.
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.
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype
2019-01-01 Callegari, Ilaria; Gemelli, C; Geroldi, A; Veneri, F; Mandich, P; D'Antonio, M; Pareyson, D; Shy, M E; Schenone, A; Prada, V; Grandis, M
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease | 1-gen-2008 | Mandich, Paola; Grandis, Marina; Geroldi, Alessandro; M., Acquaviva; A., Varese; R., Gulli; P., Ciotti; Bellone, Emilia | |
| Two families with novel PMP22 point mutations: genotype-phenotype correlation. | 1-gen-2009 | Pisciotta, C; Manganelli, F; Iodice, R; Bellone, Emilia; Geroldi, Alessandro; Volpi, N; Mandich, Paola; Santoro, L. | |
| HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients | 1-gen-2011 | Capponi, Simona; Geroldi, Alessandro; Fossa, Paola; Grandis, Marina; Paola, Ciotti; Rossella, Gulli; Schenone, Angelo; Mandich, Paola; Bellone, Emilia | |
| A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. | 1-gen-2012 | Manganelli, F; Pisciotta, C; Nolano, M; Capponi, Simona; Geroldi, Alessandro; Topa, A; Bellone, Emilia; Suls, A; Mandich, Paola; Santoro, L. | |
| Fast course ALS presenting with vocal cord paralysis: clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation. | 1-gen-2012 | Origone, Paola; Caponnetto, C; Mantero, V; Cichero, Elena; Fossa, Paola; Geroldi, Alessandro; Verdiani, Simonetta; Bellone, Emilia; Mancardi, GIOVANNI LUIGI; Mandich, Paola | |
| The FIG4 gene does not play a major role in causing ALS in Italian patients. | 1-gen-2013 | Verdiani, Simonetta; Origone, Paola; Geroldi, Alessandro; Bandettini Di Poggio, M; Mantero, V; Bellone, Emilia; Mancardi, GIOVANNI LUIGI; Caponnetto, C; Mandich, Paola | |
| TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. | 1-gen-2014 | Palmieri, Daniela; Capponi, Simona; Geroldi, Alessandro; Mura, Marzia; Mandich, Paola; Palombo, Domenico | |
| A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. | 1-gen-2014 | Ciotti, P; Luigetti, M; Geroldi, Alessandro; Capponi, Simona; Pezzini, I; Gulli, R; Pazzaglia, C; Padua, L; Massa, R; Mandich, Paola; Bellone, Emilia | |
| Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. | 1-gen-2014 | Manganelli, F; Tozza, S; Pisciotta, C; Bellone, Emilia; Iodice, R; Nolano, M; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, L. | |
| Contribution of copy number variations in CMT1X: a retrospective study. | 1-gen-2015 | Capponi, Simona; Geroldi, Alessandro; Pezzini, I; Gulli, Rossella; Ciotti, Paola; Ursino, Giulia; Lamp, Merit; Reni, L; Schenone, Angelo; Grandis, Marina; Mandich, Paola; Bellone, Emilia | |
| Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy | 1-gen-2015 | Visigalli, Davide; Castagnola, Patrizio; Capodivento, Giovanna; Geroldi, Alessandro; Bellone, Emilia; Mancardi, Gianluigi; Pareyson, Davide; Schenone, Angelo; Nobbio, Lucilla | |
| Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 | 1-gen-2016 | Capponi, Simona; Geuens, Thomas; Geroldi, Alessandro; Origone, Paola; Verdiani, Simonetta; Cichero, Elena; Adriaenssens, Elias; De Winter, Vicky; BANDETTINI DI POGGIO, MONICA LAURA; Barberis, Marco; Chiò, Adriano; Fossa, Paola; Mandich, Paola; Bellone, Emilia; Timmerman, Vincent | |
| GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course | 1-gen-2016 | Pezzini, I; Geroldi, Alessandro; Capponi, Simona; Gulli, Rossella; Schenone, Angelo; Grandis, Marina; Doria Lamba, L; La Piana, C; Cremonte, M; Pisciotta, C; Nolano, M; Manganelli, F; Santoro, L; Mandich, Paola; Bellone, Emilia | |
| Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance. | 1-gen-2017 | Geroldi, Alessandro; Lastella, P; Patruno, M; Gotta, Fabio; Resta, N; Devigili, G; Sabbà, C; Gulli, Rossella; Lamp, Merit; Origone, Paola; Mandich, Paola; Bellone, Emilia | |
| A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene | 1-gen-2017 | Fortunato, Fernanda; Neri, Marcella; Geroldi, Alessandro; Bellone, Emilia; De Grandis, Domenico; Ferlini, Alessandra; Gualandi, Francesca | |
| Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise" | 1-gen-2018 | Grandis, M; Geroldi, A; Gulli, R; Manganelli, F; Gotta, F; Lamp, M; Origone, P; Trevisan, L; Gemelli, C; Fabbri, S; Schenone, A; Tozza, S; Santoro, L; Bellone, E; Mandich, P. | |
| Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. | 1-gen-2018 | Origone, P; Gotta, F; Lamp, M; Trevisan, L; Geroldi, A; Massucco, D; Grazzini, M; Massa, F; Ticconi, F; Bauckneht, M; Marchese, R; Abbruzzese, G; Bellone, E; Mandich, P. | |
| Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients | 1-gen-2018 | Lamp, M; Origone, P; Geroldi, A; Verdiani, S; Gotta, F; Caponnetto, C; Devigili, G; Verriello, L; Scialò, C; Cabona, C; Canosa, A; Vanni, I; Bellone, E; Eleopra, R; Mandich, P. | |
| 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. | |
| Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype | 1-gen-2019 | Callegari, Ilaria; Gemelli, C; Geroldi, A; Veneri, F; Mandich, P; D'Antonio, M; Pareyson, D; Shy, M E; Schenone, A; Prada, V; Grandis, M |
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