GEROLDI, ALESSANDRO
GEROLDI, ALESSANDRO
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
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
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy?
2022-01-01 Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia
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 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.
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
2023-01-01 Geroldi, A.; Tozza, S.; Fiorillo, C.; Nolano, M.; Fossa, P.; Vitale, F.; Domi, R.; Gaudio, A.; Mammi, A.; Patrone, S.; Barbera, A. L.; Origone, P.; Ponti, C.; Sanguineri, F.; Zara, F.; Cataldi, M.; Salpietro, V.; Venturi, C. B.; Massucco, S.; Schenone, A.; Manganelli, F.; Mandich, P.; Bellone, E.; Gotta, F.
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
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy
2019-01-01 Gemelli, Chiara; Prada, Valeria; Fiorillo, Chiara; Fabbri, Sabrina; Maggi, Lorenzo; Geroldi, Alessandro; Gibertini, Sara; Mandich, Paola; Trevisan, Lucia; Fossa, Paola; Tagliafico, Alberto Stefano; Schenone, Angelo; Grandis, Marina.
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
2020-01-01 Gotta, F; Lamp, M; Geroldi, A; Trevisan, L; Origone, P; Fugazza, G; Fabbri, S; Nesti, C; Rubegni, A; Morani, F; Santorelli, Fm; Bellone, E; Mandich, P.
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
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.
Case report: Episodic ataxia without ataxia?
2023-01-01 Gaudio, Andrea; Gotta, Fabio; Ponti, Clarissa; Sanguineri, Francesca; Trevisan, Lucia; Geroldi, Alessandro; Patrone, Serena; Gemelli, Chiara; Cabona, Corrado; Astrea, Guja; Fiorillo, Chiara; Gustincich, Stefano; Grandis, Marina; Mandich, Paola
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
Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017
2019-01-01 Prada, V.; Massucco, S.; Venturi, C.; Geroldi, A.; Bellone, E.; Mandich, P.; Minuto, M.; Varaldo, E.; Mancardi, G.; Grandis, M.; Schenone, A.
EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2
2020-01-01 Geroldi, A; Prada, V; Veneri, F; Trevisan, L; Origone, P; Grandis, M; Schenone, A; Gemelli, C; Lanteri, P; Fossa, P; Mandich, P; Bellone, E
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
2024-01-01 Geroldi, Alessandro; Ponti, Clarissa; Mammi, Alessia; Patrone, Serena; Gotta, Fabio; Trevisan, Lucia; Sanguineri, Francesca; Origone, Paola; Gaudio, Andrea; La Barbera, Andrea; Cataldi, Matteo; Gemelli, Chiara; Massucco, Sara; Schenone, Angelo; Lanteri, Paola; Fiorillo, Chiara; Grandis, Marina; Mandich, Paola; Bellone, Emilia
Expanding the spectrum of genes responsible for hereditary motor neuropathies.
2019-01-01 Previtali, Sc; Zhao, E; Lazarevic, D; Pipitone, Gb; Fabrizi, Gm; Manganelli, F; Mazzeo, A; Pareyson, D; Schenone, A; Taroni, F; Vita, G; Bellone, E; Ferrarini, M; Garibaldi, M; Magri, S; Padua, L; Pennisi, E; Pisciotta, C; Riva, N; Scaioli, V; Scarlato, M; Tozza, S; Geroldi, A; Jordanova, A; Ferrari, M; Molineris, I; Reilly, Mm; Comi, G; Carrera, P; Devoto, M; Bolino, A.
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
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? | 1-gen-2022 | Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia | |
| 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 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. | |
| A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers | 1-gen-2023 | Geroldi, A.; Tozza, S.; Fiorillo, C.; Nolano, M.; Fossa, P.; Vitale, F.; Domi, R.; Gaudio, A.; Mammi, A.; Patrone, S.; Barbera, A. L.; Origone, P.; Ponti, C.; Sanguineri, F.; Zara, F.; Cataldi, M.; Salpietro, V.; Venturi, C. B.; Massucco, S.; Schenone, A.; Manganelli, F.; Mandich, P.; Bellone, E.; Gotta, F. | |
| 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 | |
| A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy | 1-gen-2019 | Gemelli, Chiara; Prada, Valeria; Fiorillo, Chiara; Fabbri, Sabrina; Maggi, Lorenzo; Geroldi, Alessandro; Gibertini, Sara; Mandich, Paola; Trevisan, Lucia; Fossa, Paola; Tagliafico, Alberto Stefano; Schenone, Angelo; Grandis, Marina. | |
| A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis? | 1-gen-2020 | Gotta, F; Lamp, M; Geroldi, A; Trevisan, L; Origone, P; Fugazza, G; Fabbri, S; Nesti, C; Rubegni, A; Morani, F; Santorelli, Fm; Bellone, E; Mandich, P. | |
| 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 | |
| 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. | |
| Case report: Episodic ataxia without ataxia? | 1-gen-2023 | Gaudio, Andrea; Gotta, Fabio; Ponti, Clarissa; Sanguineri, Francesca; Trevisan, Lucia; Geroldi, Alessandro; Patrone, Serena; Gemelli, Chiara; Cabona, Corrado; Astrea, Guja; Fiorillo, Chiara; Gustincich, Stefano; Grandis, Marina; Mandich, Paola | |
| 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 | |
| Diagnostic Value of Sural Nerve Biopsy: Retrospective Analysis of Clinical Cases From 1981 to 2017 | 1-gen-2019 | Prada, V.; Massucco, S.; Venturi, C.; Geroldi, A.; Bellone, E.; Mandich, P.; Minuto, M.; Varaldo, E.; Mancardi, G.; Grandis, M.; Schenone, A. | |
| EARLY ONSET DEMYELINATING CHARCOT‐MARIE‐TOOTH DISEASE CAUSED BY A NOVEL IN‐FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2 | 1-gen-2020 | Geroldi, A; Prada, V; Veneri, F; Trevisan, L; Origone, P; Grandis, M; Schenone, A; Gemelli, C; Lanteri, P; Fossa, P; Mandich, P; Bellone, E | |
| Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement | 1-gen-2024 | Geroldi, Alessandro; Ponti, Clarissa; Mammi, Alessia; Patrone, Serena; Gotta, Fabio; Trevisan, Lucia; Sanguineri, Francesca; Origone, Paola; Gaudio, Andrea; La Barbera, Andrea; Cataldi, Matteo; Gemelli, Chiara; Massucco, Sara; Schenone, Angelo; Lanteri, Paola; Fiorillo, Chiara; Grandis, Marina; Mandich, Paola; Bellone, Emilia | |
| Expanding the spectrum of genes responsible for hereditary motor neuropathies. | 1-gen-2019 | Previtali, Sc; Zhao, E; Lazarevic, D; Pipitone, Gb; Fabrizi, Gm; Manganelli, F; Mazzeo, A; Pareyson, D; Schenone, A; Taroni, F; Vita, G; Bellone, E; Ferrarini, M; Garibaldi, M; Magri, S; Padua, L; Pennisi, E; Pisciotta, C; Riva, N; Scaioli, V; Scarlato, M; Tozza, S; Geroldi, A; Jordanova, A; Ferrari, M; Molineris, I; Reilly, Mm; Comi, G; Carrera, P; Devoto, M; Bolino, A. | |
| 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 | |
| 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 | |
| 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 |