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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
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.
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
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
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
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
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
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
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
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.
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.
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.
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.
Mostrati risultati da 1 a 20 di 34
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