ORIGONE, PAOLA
ORIGONE, PAOLA
170011 - UNIVERSITA' DEGLI STUDI DI GENOVA
A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era
2022-01-01 Ruscitti, Federica; Origone, Paola; Rosti, Giulia; Trevisan, Lucia; Marchese, Roberta; Brugnolo, Andrea; Massa, Federico; Castellini, Paola; Mandich, Paola
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 novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient
2015-01-01 Origone, P; Verdiani, S; BANDETTINI DI POGGIO, MONICA LAURA; Zuccarino, R; Vignolo, M; Caponnetto, C; Mandich, P.
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 PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS
2024-01-01 Geroldi, A; Mammi, A; Gaudio, A; Patrone, S; La Barbera, A; Origone, P; Ponti, C; Sanguineri, F; Massucco, S; Marinelli, L; Grandis, M; Schenone, A; Mandich, P; Bellone, E; Gotta, F
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
2022-01-01 Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia
Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study
2010-01-01 Demenais, F; Mohamdi, H; Chaudru, V; Goldstein, Am; NEWTON BISHOP JA, ; Bishop, Dt; Kanetsky, Pa; Hayward, Nk; Gillanders, E; Elder, De; Avril, Mf; Azizi, E; VAN BELLE, P; Bergman, W; BIANCHI-SCARRÀ, G; BRESSAC-DE PAILLERETS, B; Calista, D; Carrera, C; Hansson, J; Harland, M; Hogg, D; Höiom, V; Holland, Ea; Ingvar, C; Landi, Mt; Lang, Jm; Mackie, Rm; Mann, Gj; Ming, Me; Njauw, Cj; Olsson, H; Palmer, J; Pastorino, L; Puig, S; RANDERSON-MOOR, J; Stark, M; Tsao, H; Tucker, Ma; VAN DER VELDEN, P; Yang, Xr; Gruis, N; Melanoma Genetics Consortium: Demenais, F; Mohamdi, H; Chaudru, V; Corda, E; Jeannin, P; Maubec, E; Avril, Mf; Bressac-de Paillerets, B; Lesueur, F; de Lichy, M; Landi, Mt; Calista, D; Landi, G; Minghetti, P; Capirossi, D; Bertazzi, Pa; Arcangeli, F; Bianhi-Scarrà, G; Pastorino, L; Battistuzzi, L; Bruno, W; Gargiulo, S; Ghiorzo, P; Gliori, S; Nasti, S; Origone, P; Queirolo, P; Gruis, Na; van Nieuwpport FA, ; Bergman, W; van der Velden, P; van Mourik, L; Aguilera, P; Badenas, C; Carrera, C; Cervera, R; Cuellar, F; Gabriel, D; Gonzalez, M; Iglesias, P; Malvehy, J; Marti-Laborda, R; Mila, M; Ogbah, Z; Butille, Ja; Puig, S; Alós, L; Ancero, A; Arguís, P; Campo, A; Castel, T; Conill, C; Palou, J; Rull, R; Sánchez, M; Vidal-Sicart, S; Vilalta, A; Vilella, R; Olsson, H; Ingvar, C; Nielsen, K; Måsbäck, A; Harbst, K; Jönsson, G; Borg, Å; Höiom, V; Hansson, J; Tuominen, R; Lindén, D; Mackie, R; Lang, J; Newton Bishop JA, ; Affleck, P; Barrett, Jh; Bishop, Dt; Harrison, J; Iles, Mm; Randerson-Moor, J; Harland, M; Taylor, Jc; Whittaker, L; Kukalizch, K; Leake, S; Karpavicius, B; Haynes, S; Mack, T; Chan, M; Taylor, Y; Tsao, H; Njauw, Cn; Goldstein, Am; Tucker, Ma; Yang, Xr; Kanetsky, P; Elder, D; Van Belle, P; Ming, M; Mitra, N; Ruffin, A; Tesema, L; Parossian, S; Hogg, D; Loo, Jc; Martin, Ng; Montgomery, Gw; Duffy, Dl; Whiteman, Dc; Macgregor, S; Hayward, Nk; Mann, Gj; Kefford, Rf; Schmid, H; Holland, Ea.; Ghiorzo, P.; Bruno, W.
ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.
2015-01-01 Borghero, G; Pugliatti, M; Marrosu, F; Marrosu, Mg; Murru, Mr; Floris, G; Cannas, A; Parish, Ld; Cau, Tb; Loi, D; Ticca, A; Traccis, S; Manera, U; Canosa, A; Moglia, C; Calvo, A; Barberis, M; Brunetti, M; Renton, Ae; Nalls, Mal; Traynor, Bj; Restagno, G; Chiò, A; Logullo, Fo; Simone, I; Logroscino, G; Salvi, F; Bartolomei, I; Capasso, M; Caponnetto, C; Mancardi, G; Mandich, P; Origone, P; Conforti, F; Mora, G; Marinou, K; Sideri, R; Lunetta, C; Penco, S; Mosca, L; Nilo, R; Pinter, Gl; Corbo, M; Volanti, P; Mandrioli, J; Fini, N; Georgoulopoulou, E; Tremolizzo, L; Monsurrò, Mr; Tedeschi, G; Cristillo, V; la Bella, V; Spataro, R; Colletti, T; Sabatelli, M; Zollino, M; Conte, A; Luigetti, M; Lattante, S; Marangi, G; Santarelli, M; Petrucci, A; Giannini, F; Battistini, S; Ricci, C; Casale, F; Marrali, G; Fuda, G; Ossola, I; Cammarosano, S; Ilardi, A; Bertuzzo, D; Tanel, R; Pisano, F; Costantino, E; Pani, C; Puddu, R; Caredda, C; Piras, V; Tranquilli, S; Cuccu, S; Corongiu, D; Melis, M; Milia, A; Pirisi, A; Occhineri, P; Ortu, E.
CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients
2015-01-01 Chio, A.; Mora, G.; Sabatelli, M.; Caponnetto, C.; Traynor, B. J.; Johnson, J. O.; Nalls, M. A.; Calvo, A.; Moglia, C.; Borghero, G.; Monsurro, M. R.; La Bella, V.; Volanti, P.; Simone, I.; Salvi, F.; Logullo, F. O.; Nilo, R.; Battistini, S.; Mandrioli, J.; Tanel, R.; Murru, M. R.; Mandich, P.; Zollino, M.; Conforti, F. L.; Brunetti, M.; Barberis, M.; Restagno, G.; Penco, S.; Lunetta, C.; Giannini, F.; Ricci, C.; Mancardi, G.; Bartolomei, I.; Corbo, M.; Conte, A.; Luigetti, M.; Lattante, S.; Marangi, G.; Ossola, I.; Logroscino, G.; Tedeschi, G.; Pugliatti, M.; Pinter, G. L.; Glynn, S.; Gibbs, J. R.; Cammarosano, S.; Canosa, A.; Manera, U.; Bertuzzo, D.; Ilardi, A.; Marinou, K.; Sideri, R.; Pisano, F.; Spataro, R.; Colletti, T.; Floris, G.; Cannas, A.; Piras, V.; Marrosu, F.; Marrosu, M. G.; Parish, L. D.; Ticca, A.; Pirisi, A.; Ortu, E.; Cau, T. B.; Loi, D.; Traccis, S.; Fini, N.; Georgoulopoulou, E.; Casale, F.; Marrali, G.; Fuda, G.; Solamone, P.; Maestri, E.; Mazzei, R.; Cristillo, V.; Puddu, R.; Costantino, E.; Pani, C.; Caredda, C.; Origone, P.; Mosca, L.; Capasso, M.; Turri, M.; Petrucci, A.; Tremolizzo, L.; Santarelli, M.
Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies
2024-01-01 Geroldi, Alessandro; La Barbera, Andrea; Mammi, Alessia; Origone, Paola; Gaudio, Andrea; Ponti, Clarissa; Sanguineri, Francesca; Matà, Sabrina; Sperti, Martina; Carboni, Ilaria; Bellone, Emilia; Gotta, Fabio; Gemelli, Chiara; Massucco, Sara; Valeria, Guglielmino; Marinelli, Lucio; Grandis, Marina; Bisogni, Giulia; Sabatelli, Mario; Piscosquito, Giuseppe; Esposito, Gabriella; Schenone, Angelo; Manganelli, Fiore; Mandich, Paola; Tozza, Stefano; Luigetti, Marco
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
2012-01-01 Chiò, A1; Borghero, G; Restagno, G; Mora, G; Drepper, C; Traynor, Bj; Sendtner, M; Brunetti, M; Ossola, I; Calvo, A; Pugliatti, M; Sotgiu, Ma; Murru, Mr; Marrosu, Mg; Marrosu, F; Marinou, K; Mandrioli, J; Sola, P; Caponnetto, C; Mancardi, G; Mandich, P; La Bella, V; Spataro, R; Conte, A; Monsurrò, Mr; Tedeschi, G; Pisano, F; Bartolomei, I; Salvi, F; Lauria Pinter, G; Simone, I; Logroscino, G; Gambardella, A; Quattrone, A; Lunetta, C; Volanti, P; Zollino, M; Penco, S; Battistini, S; Renton, Ae; Majounie, E; Abramzon, Y; Conforti, Fl; Giannini, F; Corbo, M; Sabatelli, M; Moglia, C; Cammarosano, S; Fuda, G; Canosa, A; Gallo, S; Papetti, L; Luigetti, M; Lattante, S; Marangi, G; Colletti, T; Ricci, C; Origone, P; Floris, G; Cannas, A; Piras, V; Parish, Ld; Solinas, G; Ulgheri, L; Ticca, A; Izzo, F; Laiola, A; Trojsi, F.
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study
2024-01-01 Cabona, C.; Ferraro, P. M.; Scialo, C.; Bandettini Di Poggio, M.; Novi, G.; Gemelli, C.; Vignolo, M.; Rao, F.; Capovilla, M.; Marogna, M.; Mandich, P.; Origone, P.; Schenone, A.; Caponnetto, C.
Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register
2016-01-01 Scialo', Carlo; Novi, Giovanni; Bandettini di Poggio, M; Canosa, A; Sormani, MARIA PIA; Mandich, Paola; Origone, Paola; Truffelli, R; Mancardi, GIOVANNI LUIGI; Caponnetto, C.
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.
2015-01-01 Mandich, Paola; Mantero, V; Verdiani, Simonetta; Gotta, Fabio; Caponnetto, C; Bellone, E; Ferrandes, G; Origone, Paola
Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation
2024-01-01 Giardina, Emiliano; Mandich, Paola; Ghidoni, Roberta; Ticozzi, Nicola; Rossi, Giacomina; Fenoglio, Chiara; Tiziano, Francesco Danilo; Esposito, Federica; Capellari, Sabina; Nacmias, Benedetta; Mineri, Rossana; Campopiano, Rosa; Di Pilla, Luana; Sammarone, Federica; Zampatti, Stefania; Peconi, Cristina; De Angelis, Flavio; Palmieri, Ilaria; Galandra, Caterina; Nicodemo, Eleonora; Origone, Paola; Gotta, Fabio; Ponti, Clarissa; Nicsanu, Roland; Benussi, Luisa; Peverelli, Silvia; Ratti, Antonia; Ricci, Martina; Di Fede, Giuseppe; Magri, Stefania; Serpente, Maria; Lattante, Serena; Domi, Teuta; Carrera, Paola; Saltimbanco, Elisa; Bagnoli, Silvia; Ingannato, Assunta; Albanese, Alberto; Tagliavini, Fabrizio; Lodi, Raffaele; Caltagirone, Carlo; Gambardella, Stefano; Valente, Enza Maria; Silani, Vincenzo
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
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling.
2010-01-01 Origone, Paola; C., Caponnetto; M. B., Di; E., Ghiglione; Bellone, Emilia; G., Ferrandes; Mancardi, GIOVANNI LUIGI; Mandich, Paola
Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling.
2013-01-01 Origone, Paola; Verdiani, Simonetta; Ciotti, P; Gulli, R; Bellone, Emilia; Marchese, R; Abbruzzese, Giovanni; Mandich, Paola
Expression and genomic configuration of GM-CSF, IL-3, M-CSFreceptor (C-FMS), early growth response gene-1 (EGR-1) and M-CSF genes in primary myelodysplastic syndromes
1994-01-01 C., Mareni; Sessarego, Mario; M., Montera; G., Fugazza; Origone, Paola; E., D'Amato; R., Lerza; V., Pistoia; Bianchi, Giovanna
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era | 1-gen-2022 | Ruscitti, Federica; Origone, Paola; Rosti, Giulia; Trevisan, Lucia; Marchese, Roberta; Brugnolo, Andrea; Massa, Federico; Castellini, Paola; Mandich, Paola | |
| 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 novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient | 1-gen-2015 | Origone, P; Verdiani, S; BANDETTINI DI POGGIO, MONICA LAURA; Zuccarino, R; Vignolo, M; Caponnetto, C; Mandich, P. | |
| 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 PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS | 1-gen-2024 | Geroldi, A; Mammi, A; Gaudio, A; Patrone, S; La Barbera, A; Origone, P; Ponti, C; Sanguineri, F; Massucco, S; Marinelli, L; Grandis, M; Schenone, A; Mandich, P; Bellone, E; Gotta, F | |
| An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia | 1-gen-2022 | Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia | |
| Association of MC1R Variants and Host Phenotypes With Melanoma Risk in CDKN2A Mutation Carriers: A GenoMEL Study | 1-gen-2010 | Demenais, F; Mohamdi, H; Chaudru, V; Goldstein, Am; NEWTON BISHOP JA, ; Bishop, Dt; Kanetsky, Pa; Hayward, Nk; Gillanders, E; Elder, De; Avril, Mf; Azizi, E; VAN BELLE, P; Bergman, W; BIANCHI-SCARRÀ, G; BRESSAC-DE PAILLERETS, B; Calista, D; Carrera, C; Hansson, J; Harland, M; Hogg, D; Höiom, V; Holland, Ea; Ingvar, C; Landi, Mt; Lang, Jm; Mackie, Rm; Mann, Gj; Ming, Me; Njauw, Cj; Olsson, H; Palmer, J; Pastorino, L; Puig, S; RANDERSON-MOOR, J; Stark, M; Tsao, H; Tucker, Ma; VAN DER VELDEN, P; Yang, Xr; Gruis, N; Melanoma Genetics Consortium: Demenais, F; Mohamdi, H; Chaudru, V; Corda, E; Jeannin, P; Maubec, E; Avril, Mf; Bressac-de Paillerets, B; Lesueur, F; de Lichy, M; Landi, Mt; Calista, D; Landi, G; Minghetti, P; Capirossi, D; Bertazzi, Pa; Arcangeli, F; Bianhi-Scarrà, G; Pastorino, L; Battistuzzi, L; Bruno, W; Gargiulo, S; Ghiorzo, P; Gliori, S; Nasti, S; Origone, P; Queirolo, P; Gruis, Na; van Nieuwpport FA, ; Bergman, W; van der Velden, P; van Mourik, L; Aguilera, P; Badenas, C; Carrera, C; Cervera, R; Cuellar, F; Gabriel, D; Gonzalez, M; Iglesias, P; Malvehy, J; Marti-Laborda, R; Mila, M; Ogbah, Z; Butille, Ja; Puig, S; Alós, L; Ancero, A; Arguís, P; Campo, A; Castel, T; Conill, C; Palou, J; Rull, R; Sánchez, M; Vidal-Sicart, S; Vilalta, A; Vilella, R; Olsson, H; Ingvar, C; Nielsen, K; Måsbäck, A; Harbst, K; Jönsson, G; Borg, Å; Höiom, V; Hansson, J; Tuominen, R; Lindén, D; Mackie, R; Lang, J; Newton Bishop JA, ; Affleck, P; Barrett, Jh; Bishop, Dt; Harrison, J; Iles, Mm; Randerson-Moor, J; Harland, M; Taylor, Jc; Whittaker, L; Kukalizch, K; Leake, S; Karpavicius, B; Haynes, S; Mack, T; Chan, M; Taylor, Y; Tsao, H; Njauw, Cn; Goldstein, Am; Tucker, Ma; Yang, Xr; Kanetsky, P; Elder, D; Van Belle, P; Ming, M; Mitra, N; Ruffin, A; Tesema, L; Parossian, S; Hogg, D; Loo, Jc; Martin, Ng; Montgomery, Gw; Duffy, Dl; Whiteman, Dc; Macgregor, S; Hayward, Nk; Mann, Gj; Kefford, Rf; Schmid, H; Holland, Ea.; Ghiorzo, P.; Bruno, W. | |
| ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. | 1-gen-2015 | Borghero, G; Pugliatti, M; Marrosu, F; Marrosu, Mg; Murru, Mr; Floris, G; Cannas, A; Parish, Ld; Cau, Tb; Loi, D; Ticca, A; Traccis, S; Manera, U; Canosa, A; Moglia, C; Calvo, A; Barberis, M; Brunetti, M; Renton, Ae; Nalls, Mal; Traynor, Bj; Restagno, G; Chiò, A; Logullo, Fo; Simone, I; Logroscino, G; Salvi, F; Bartolomei, I; Capasso, M; Caponnetto, C; Mancardi, G; Mandich, P; Origone, P; Conforti, F; Mora, G; Marinou, K; Sideri, R; Lunetta, C; Penco, S; Mosca, L; Nilo, R; Pinter, Gl; Corbo, M; Volanti, P; Mandrioli, J; Fini, N; Georgoulopoulou, E; Tremolizzo, L; Monsurrò, Mr; Tedeschi, G; Cristillo, V; la Bella, V; Spataro, R; Colletti, T; Sabatelli, M; Zollino, M; Conte, A; Luigetti, M; Lattante, S; Marangi, G; Santarelli, M; Petrucci, A; Giannini, F; Battistini, S; Ricci, C; Casale, F; Marrali, G; Fuda, G; Ossola, I; Cammarosano, S; Ilardi, A; Bertuzzo, D; Tanel, R; Pisano, F; Costantino, E; Pani, C; Puddu, R; Caredda, C; Piras, V; Tranquilli, S; Cuccu, S; Corongiu, D; Melis, M; Milia, A; Pirisi, A; Occhineri, P; Ortu, E. | |
| CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients | 1-gen-2015 | Chio, A.; Mora, G.; Sabatelli, M.; Caponnetto, C.; Traynor, B. J.; Johnson, J. O.; Nalls, M. A.; Calvo, A.; Moglia, C.; Borghero, G.; Monsurro, M. R.; La Bella, V.; Volanti, P.; Simone, I.; Salvi, F.; Logullo, F. O.; Nilo, R.; Battistini, S.; Mandrioli, J.; Tanel, R.; Murru, M. R.; Mandich, P.; Zollino, M.; Conforti, F. L.; Brunetti, M.; Barberis, M.; Restagno, G.; Penco, S.; Lunetta, C.; Giannini, F.; Ricci, C.; Mancardi, G.; Bartolomei, I.; Corbo, M.; Conte, A.; Luigetti, M.; Lattante, S.; Marangi, G.; Ossola, I.; Logroscino, G.; Tedeschi, G.; Pugliatti, M.; Pinter, G. L.; Glynn, S.; Gibbs, J. R.; Cammarosano, S.; Canosa, A.; Manera, U.; Bertuzzo, D.; Ilardi, A.; Marinou, K.; Sideri, R.; Pisano, F.; Spataro, R.; Colletti, T.; Floris, G.; Cannas, A.; Piras, V.; Marrosu, F.; Marrosu, M. G.; Parish, L. D.; Ticca, A.; Pirisi, A.; Ortu, E.; Cau, T. B.; Loi, D.; Traccis, S.; Fini, N.; Georgoulopoulou, E.; Casale, F.; Marrali, G.; Fuda, G.; Solamone, P.; Maestri, E.; Mazzei, R.; Cristillo, V.; Puddu, R.; Costantino, E.; Pani, C.; Caredda, C.; Origone, P.; Mosca, L.; Capasso, M.; Turri, M.; Petrucci, A.; Tremolizzo, L.; Santarelli, M. | |
| Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies | 1-gen-2024 | Geroldi, Alessandro; La Barbera, Andrea; Mammi, Alessia; Origone, Paola; Gaudio, Andrea; Ponti, Clarissa; Sanguineri, Francesca; Matà, Sabrina; Sperti, Martina; Carboni, Ilaria; Bellone, Emilia; Gotta, Fabio; Gemelli, Chiara; Massucco, Sara; Valeria, Guglielmino; Marinelli, Lucio; Grandis, Marina; Bisogni, Giulia; Sabatelli, Mario; Piscosquito, Giuseppe; Esposito, Gabriella; Schenone, Angelo; Manganelli, Fiore; Mandich, Paola; Tozza, Stefano; Luigetti, Marco | |
| Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. | 1-gen-2012 | Chiò, A1; Borghero, G; Restagno, G; Mora, G; Drepper, C; Traynor, Bj; Sendtner, M; Brunetti, M; Ossola, I; Calvo, A; Pugliatti, M; Sotgiu, Ma; Murru, Mr; Marrosu, Mg; Marrosu, F; Marinou, K; Mandrioli, J; Sola, P; Caponnetto, C; Mancardi, G; Mandich, P; La Bella, V; Spataro, R; Conte, A; Monsurrò, Mr; Tedeschi, G; Pisano, F; Bartolomei, I; Salvi, F; Lauria Pinter, G; Simone, I; Logroscino, G; Gambardella, A; Quattrone, A; Lunetta, C; Volanti, P; Zollino, M; Penco, S; Battistini, S; Renton, Ae; Majounie, E; Abramzon, Y; Conforti, Fl; Giannini, F; Corbo, M; Sabatelli, M; Moglia, C; Cammarosano, S; Fuda, G; Canosa, A; Gallo, S; Papetti, L; Luigetti, M; Lattante, S; Marangi, G; Colletti, T; Ricci, C; Origone, P; Floris, G; Cannas, A; Piras, V; Parish, Ld; Solinas, G; Ulgheri, L; Ticca, A; Izzo, F; Laiola, A; Trojsi, F. | |
| Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: a ten year follow up study | 1-gen-2024 | Cabona, C.; Ferraro, P. M.; Scialo, C.; Bandettini Di Poggio, M.; Novi, G.; Gemelli, C.; Vignolo, M.; Rao, F.; Capovilla, M.; Marogna, M.; Mandich, P.; Origone, P.; Schenone, A.; Caponnetto, C. | |
| Clinical epidemiology of amyotrophic lateral sclerosis in Liguria, Italy: An update of LIGALS register | 1-gen-2016 | Scialo', Carlo; Novi, Giovanni; Bandettini di Poggio, M; Canosa, A; Sormani, MARIA PIA; Mandich, Paola; Origone, Paola; Truffelli, R; Mancardi, GIOVANNI LUIGI; Caponnetto, C. | |
| Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results. | 1-gen-2015 | Mandich, Paola; Mantero, V; Verdiani, Simonetta; Gotta, Fabio; Caponnetto, C; Bellone, E; Ferrandes, G; Origone, Paola | |
| Distribution of the C9orf72 hexanucleotide repeat expansion in healthy subjects: a multicenter study promoted by the Italian IRCCS network of neuroscience and neurorehabilitation | 1-gen-2024 | Giardina, Emiliano; Mandich, Paola; Ghidoni, Roberta; Ticozzi, Nicola; Rossi, Giacomina; Fenoglio, Chiara; Tiziano, Francesco Danilo; Esposito, Federica; Capellari, Sabina; Nacmias, Benedetta; Mineri, Rossana; Campopiano, Rosa; Di Pilla, Luana; Sammarone, Federica; Zampatti, Stefania; Peconi, Cristina; De Angelis, Flavio; Palmieri, Ilaria; Galandra, Caterina; Nicodemo, Eleonora; Origone, Paola; Gotta, Fabio; Ponti, Clarissa; Nicsanu, Roland; Benussi, Luisa; Peverelli, Silvia; Ratti, Antonia; Ricci, Martina; Di Fede, Giuseppe; Magri, Stefania; Serpente, Maria; Lattante, Serena; Domi, Teuta; Carrera, Paola; Saltimbanco, Elisa; Bagnoli, Silvia; Ingannato, Assunta; Albanese, Alberto; Tagliavini, Fabrizio; Lodi, Raffaele; Caltagirone, Carlo; Gambardella, Stefano; Valente, Enza Maria; Silani, Vincenzo | |
| 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 | |
| Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. | 1-gen-2010 | Origone, Paola; C., Caponnetto; M. B., Di; E., Ghiglione; Bellone, Emilia; G., Ferrandes; Mancardi, GIOVANNI LUIGI; Mandich, Paola | |
| Enlarging the clinical spectrum associated with C9orf 72 repeat expansions: findings in an Italian cohort of patients with parkinsonian syndromes and relevance for genetic counselling. | 1-gen-2013 | Origone, Paola; Verdiani, Simonetta; Ciotti, P; Gulli, R; Bellone, Emilia; Marchese, R; Abbruzzese, Giovanni; Mandich, Paola | |
| Expression and genomic configuration of GM-CSF, IL-3, M-CSFreceptor (C-FMS), early growth response gene-1 (EGR-1) and M-CSF genes in primary myelodysplastic syndromes | 1-gen-1994 | C., Mareni; Sessarego, Mario; M., Montera; G., Fugazza; Origone, Paola; E., D'Amato; R., Lerza; V., Pistoia; Bianchi, Giovanna |