CONFORTI, FRANCESCA LUISA
CONFORTI, FRANCESCA LUISA
Istituto di Scienze Neurologiche - ISN - Sede Mangone (attivo dal 18/11/1923 al 31/12/2021)
ALS and CHARGE syndrome: a clinical and genetic study
2018 Ungaro, Carmine; Citrigno, Luigi; Trojsi, Francesca; Sprovieri, Teresa; Gentile, Giulia; Muglia, Maria; Monsurro Maria, Rosaria; Tedeschi, Gioacchino; Cavallaro, Sebastiano; Conforti, FRANCESCA LUISA
Clinical features and genetic characterization of two dizygotic twins with C9orf72 expansion
2018 Conforti, Francesca Luisa; Tortelli, Rosanna; Morello, Giovanna; Capozzo, Rosa; Barulli, Maria Rosaria; Cavallaro, Sebastiano; Logroscino, Giancarlo
GENETIC AND AGRONOMIC SELECTION OF OLIVE GERMPLASM AFTER BURIAN EFFECT
2018 Zelasco, S; Foianini, I; Enrietta, S; Biancat, A; Ganino, T; Bazzini, S; Salimonti, A; Murada, G; Conforti, Fl; Cantini, C
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
2018 Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio
High-resolution genomic analysis of an amyotrophic lateral sclerosis case in a large spinocerebellar ataxia type 1 family
2018 G. Morello; M. Guarnaccia; L. Citrigno; V. La Bella; S. Cavallaro; F.L. Conforti
Integrative multi-omic analysis identify new drivers and pathways in molecularly distinct subtypes of ALS
2018 Antonio Gianmaria Spampinato ; Giovanna Morello ; Maria Guarnaccia ; Salvatore Salomone ; Velia D'Agata ; Francesca Luisa Conforti ; Eleonora Aronica ; Sebastiano Cavallaro ;
Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia.
2018 Citrigno L ; Magariello A ; Pugliese P ; Di Palma G ; Conforti FL ; Petrone A ; Muglia M
NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders
2018 La Cognata, Valentina; Morello, Giovanna; Gentile, Giulia; Cavalcanti, Francesca; Cittadella, Rita; Conforti, Francesca Luisa; De Marco, Elvira Valeria; Magariello, Angela; Muglia, Maria; Patitucci, Alessandra; Spadafora, Patrizia; D'Agata, Velia; Ruggieri, Martino; Cavallaro, Sebastiano
PACAP and PAC1R are differentially expressed in motor cortex of amyotrophic lateral sclerosis patients and support survival of iPSC-derived motor neurons
2018 Bonaventura, Gabriele; Iemmolo, Rosario; D'Amico Agata, G; D'Amico Agata, G; LA COGNATA, Valentina; LA COGNATA, Valentina; Costanzo, Erminio; Zappia, Mario; D'Agata, Velia; Conforti Francesca, L; Aronica, Eleonora; Cavallaro, Sebastiano
Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis
2018 Morello, Giovanna; Spampinato, Antonio Gianmaria; Conforti, Francesca Luisa; Cavallaro, Sebastiano
The HFE H63D (p.His63Asp) polymorphism is a modifier of ALS outcome in Italian and French patients with SOD1 mutations
2018 Canosa, A; Calvo, A; Mora, G; Brunetti, M; Barberis, M; Borghero, G; Caponnetto, C; Monsurro, M R; La Bella, V; Volanti, P; Simone, I; Salvi, F; Riva, N; Tremolizzo, L; Giannini, F; Mandrioli, J; Murru, M R; Mandich, P; Conforti, F; Sabatelli, M; Lunetta, C; Meininger, V; Clavelou, P; Camu, W; Chio, A
Traceability of "Tuscan PGI" Extra Virgin Olive Oils by ¹H NMR Metabolic Profiles Collection and Analysis.
2018 Girelli CR; Coco LD; Zelasco S; Salimonti A; Conforti FL; Biagianti A; Barbini D; Fanizzi FP.
ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation Carriers
2017 Lo Bello M.; Di Fini F.; Notaro A.; Spataro R.; Conforti F.L.; La Bella V.
ATXN2 trinucleotide repeat length correlates with risk of ALS.
2017 Sproviero, W; Shatunov, A; Stahl, D; Shoai, M; van Rheenen, W; Jones, Ar; Alsarraj, S; Andersen, Pm; Bonini, Nm; Conforti, Fl; Van Damme, P; Daoud, H; Del Mar Amador, M; Fogh, I; Forzan, M; Gaastra, B; Gellera, C; Gitler, Ad; Hardy, J; Fratta, P; La Bella, V; Le Ber, I; Van Langenhove, T; Lattante, S; Lee, Yc; Malaspina, A; Meininger, V; Millecamps, S; Orrell, R; Rademakers, R; Robberecht, W; Rouleau, G; Ross, Oa; Salachas, F; Sidle, K; Smith, Bn; Soong, Bw; Sorarù, G; Stevanin, G; Kabashi, E; Troakes, C; van Broeckhoven, C; Veldink, Jh; van den Berg, Lh; Shaw, Ce; Powell, Jf; Alchalabi, A
Diagnosi e aspetti genetici delle Malattie del Motoneurone
2017 Francesca Luisa Conforti
Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments
2017 Magariello A.; Russo C.; Citrigno L.; Zuchner S.; Patitucci A.; Mazzei R.; Conforti F.L.; Ferlazzo E.; Aguglia U.; Muglia M
Exploring olive trees genetic variability in the South East of Tunisia
2017 Ben Mohamed, M; Ben Mohamed, M; Ben Mohamed, M; Zelasco, S; Ben Ali, S; Ben Ali, S; Ben Ali, S; Guasmi, F; Triki, T; F L, Conforti; Naziha, G Kamoun
MOLECULAR CHARACTERIZATION OF TUSCANY OLIVE ACCESSIONS AS TOOL TO SUPPORT PGI CERTIFICATION
2017 Zelasco, S; Conforti, Fl; Salimonti, A
RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING.
2017 Citrigno L.; Gentile G. ; Praticò A. ; Conforti FL. ; Magariello A. ; Patitucci A. ; Cavallaro S. ; Ruggieri M. ;Muglia M.
Report of an ALS case associated with a new mutation in the TARDBP gene
2017 F.L. Conforti; A. Patitucci; A. Magariello; M. Muglia; R. Mazzei; V. La Bella
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| ALS and CHARGE syndrome: a clinical and genetic study | 1-gen-2018 | Ungaro, Carmine; Citrigno, Luigi; Trojsi, Francesca; Sprovieri, Teresa; Gentile, Giulia; Muglia, Maria; Monsurro Maria, Rosaria; Tedeschi, Gioacchino; Cavallaro, Sebastiano; Conforti, FRANCESCA LUISA | |
| Clinical features and genetic characterization of two dizygotic twins with C9orf72 expansion | 1-gen-2018 | Conforti, Francesca Luisa; Tortelli, Rosanna; Morello, Giovanna; Capozzo, Rosa; Barulli, Maria Rosaria; Cavallaro, Sebastiano; Logroscino, Giancarlo | |
| GENETIC AND AGRONOMIC SELECTION OF OLIVE GERMPLASM AFTER BURIAN EFFECT | 1-gen-2018 | Zelasco, S; Foianini, I; Enrietta, S; Biancat, A; Ganino, T; Bazzini, S; Salimonti, A; Murada, G; Conforti, Fl; Cantini, C | |
| Genome-wide Analyses Identify KIF5A as a Novel ALS Gene | 1-gen-2018 | Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Renton, Alan E.; Renton, Alan E.; Ticozzi, Nicola; Ticozzi, Nicola; Faghri, Faraz; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.; Nalls, Mike A.; Keagle, Pamela; Rivera, Alberto M.; van Rheenen, Wouter; Murphy, Natalie A.; van Vugt, Joke J.F.A.; Geiger, Joshua T.; Van der Spek, Rick A.; Pliner, Hannah A.; Shankaracharya, null; Smith, Bradley N.; Marangi, Giuseppe; Marangi, Giuseppe; Topp, Simon D.; Abramzon, Yevgeniya; Abramzon, Yevgeniya; Gkazi, Athina Soragia; Eicher, John D.; Kenna, Aoife; Logullo, Francesco O.; Simone, Isabella; Logroscino, Giancarlo; Salvi, Fabrizio; Bartolomei, Ilaria; Borghero, Giuseppe; Murru, Maria Rita; Costantino, Emanuela; Pani, Carla; Puddu, Roberta; Caredda, Carla; Piras, Valeria; Tranquilli, Stefania; Cuccu, Stefania; Corongiu, Daniela; Melis, Maurizio; Milia, Antonio; Marrosu, Francesco; Marrosu, Maria Giovanna; Floris, Gianluca; Cannas, Antonino; Capasso, Margherita; Caponnetto, Claudia; Mancardi, Gianluigi; Origone, Paola; Mandich, Paola; Conforti, Francesca L.; Cavallaro, Sebastiano; Mora, Gabriele; Marinou, Kalliopi; Sideri, Riccardo; Penco, Silvana; Mosca, Lorena; Lunetta, Christian; Pinter, Giuseppe Lauria; Corbo, Massimo; Riva, Nilo; Carrera, Paola; Volanti, Paolo; Mandrioli, Jessica; Fini, Nicola; Fasano, Antonio; Tremolizzo, Lucio; Arosio, Alessandro; Ferrarese, Carlo; Trojsi, Francesca; Tedeschi, Gioacchino; Monsurrò, Maria Rosaria; Piccirillo, Giovanni; Femiano, Cinzia; Ticca, Anna; Ortu, Enzo; La Bella, Vincenzo; Spataro, Rossella; Colletti, Tiziana; Sabatelli, Mario; Zollino, Marcella; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Santarelli, Marialuisa; Petrucci, Antonio; Pugliatti, Maura; Pirisi, Angelo; Parish, Leslie D.; Occhineri, Patrizia; Giannini, Fabio | |
| High-resolution genomic analysis of an amyotrophic lateral sclerosis case in a large spinocerebellar ataxia type 1 family | 1-gen-2018 | G. Morello; M. Guarnaccia; L. Citrigno; V. La Bella; S. Cavallaro; F.L. Conforti | |
| Integrative multi-omic analysis identify new drivers and pathways in molecularly distinct subtypes of ALS | 1-gen-2018 | Antonio Gianmaria Spampinato ; Giovanna Morello ; Maria Guarnaccia ; Salvatore Salomone ; Velia D'Agata ; Francesca Luisa Conforti ; Eleonora Aronica ; Sebastiano Cavallaro ; | |
| Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia. | 1-gen-2018 | Citrigno L ; Magariello A ; Pugliese P ; Di Palma G ; Conforti FL ; Petrone A ; Muglia M | |
| NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders | 1-gen-2018 | La Cognata, Valentina; Morello, Giovanna; Gentile, Giulia; Cavalcanti, Francesca; Cittadella, Rita; Conforti, Francesca Luisa; De Marco, Elvira Valeria; Magariello, Angela; Muglia, Maria; Patitucci, Alessandra; Spadafora, Patrizia; D'Agata, Velia; Ruggieri, Martino; Cavallaro, Sebastiano | |
| PACAP and PAC1R are differentially expressed in motor cortex of amyotrophic lateral sclerosis patients and support survival of iPSC-derived motor neurons | 1-gen-2018 | Bonaventura, Gabriele; Iemmolo, Rosario; D'Amico Agata, G; D'Amico Agata, G; LA COGNATA, Valentina; LA COGNATA, Valentina; Costanzo, Erminio; Zappia, Mario; D'Agata, Velia; Conforti Francesca, L; Aronica, Eleonora; Cavallaro, Sebastiano | |
| Taxonomy Meets Neurology, the Case of Amyotrophic Lateral Sclerosis | 1-gen-2018 | Morello, Giovanna; Spampinato, Antonio Gianmaria; Conforti, Francesca Luisa; Cavallaro, Sebastiano | |
| The HFE H63D (p.His63Asp) polymorphism is a modifier of ALS outcome in Italian and French patients with SOD1 mutations | 1-gen-2018 | Canosa, A; Calvo, A; Mora, G; Brunetti, M; Barberis, M; Borghero, G; Caponnetto, C; Monsurro, M R; La Bella, V; Volanti, P; Simone, I; Salvi, F; Riva, N; Tremolizzo, L; Giannini, F; Mandrioli, J; Murru, M R; Mandich, P; Conforti, F; Sabatelli, M; Lunetta, C; Meininger, V; Clavelou, P; Camu, W; Chio, A | |
| Traceability of "Tuscan PGI" Extra Virgin Olive Oils by ¹H NMR Metabolic Profiles Collection and Analysis. | 1-gen-2018 | Girelli CR; Coco LD; Zelasco S; Salimonti A; Conforti FL; Biagianti A; Barbini D; Fanizzi FP. | |
| ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic FUS P525L Mutation Carriers | 1-gen-2017 | Lo Bello M.; Di Fini F.; Notaro A.; Spataro R.; Conforti F.L.; La Bella V. | |
| ATXN2 trinucleotide repeat length correlates with risk of ALS. | 1-gen-2017 | Sproviero, W; Shatunov, A; Stahl, D; Shoai, M; van Rheenen, W; Jones, Ar; Alsarraj, S; Andersen, Pm; Bonini, Nm; Conforti, Fl; Van Damme, P; Daoud, H; Del Mar Amador, M; Fogh, I; Forzan, M; Gaastra, B; Gellera, C; Gitler, Ad; Hardy, J; Fratta, P; La Bella, V; Le Ber, I; Van Langenhove, T; Lattante, S; Lee, Yc; Malaspina, A; Meininger, V; Millecamps, S; Orrell, R; Rademakers, R; Robberecht, W; Rouleau, G; Ross, Oa; Salachas, F; Sidle, K; Smith, Bn; Soong, Bw; Sorarù, G; Stevanin, G; Kabashi, E; Troakes, C; van Broeckhoven, C; Veldink, Jh; van den Berg, Lh; Shaw, Ce; Powell, Jf; Alchalabi, A | |
| Diagnosi e aspetti genetici delle Malattie del Motoneurone | 1-gen-2017 | Francesca Luisa Conforti | |
| Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments | 1-gen-2017 | Magariello A.; Russo C.; Citrigno L.; Zuchner S.; Patitucci A.; Mazzei R.; Conforti F.L.; Ferlazzo E.; Aguglia U.; Muglia M | |
| Exploring olive trees genetic variability in the South East of Tunisia | 1-gen-2017 | Ben Mohamed, M; Ben Mohamed, M; Ben Mohamed, M; Zelasco, S; Ben Ali, S; Ben Ali, S; Ben Ali, S; Guasmi, F; Triki, T; F L, Conforti; Naziha, G Kamoun | |
| MOLECULAR CHARACTERIZATION OF TUSCANY OLIVE ACCESSIONS AS TOOL TO SUPPORT PGI CERTIFICATION | 1-gen-2017 | Zelasco, S; Conforti, Fl; Salimonti, A | |
| RAPID IDENTIFICATION OF PATHOGENIC VARIANTS IN NEUROFIBROMATOSIS DISEASE BY GENE-PANEL SEQUENCING. | 1-gen-2017 | Citrigno L.; Gentile G. ; Praticò A. ; Conforti FL. ; Magariello A. ; Patitucci A. ; Cavallaro S. ; Ruggieri M. ;Muglia M. | |
| Report of an ALS case associated with a new mutation in the TARDBP gene | 1-gen-2017 | F.L. Conforti; A. Patitucci; A. Magariello; M. Muglia; R. Mazzei; V. La Bella |