CNR Institutional Research Information System

CAVALCANTI, FRANCESCA

CAVALCANTI, FRANCESCA  

Istituto per la Ricerca e l'Innovazione Biomedica -IRIB  

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Risultati 1 - 20 di 91 (tempo di esecuzione: 0.038 secondi).
Titolo Data di pubblicazione Autore(i) File
A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease 1-gen-2016 LA COGNATA, Valentina; Morello, Giovanna; Gentile, Giulia; D'Agata, Velia; Criscuolo, Chiara; Cavalcanti, Francesca; Cavallaro, Sebastiano
A DINUCLEOTIDE REPEAT POLYMORPHISM (D9S202) IN THE FRIEDREICHS ATAXIA REGION ON CHROMOSOME-9Q13-Q21.1 1-gen-1993 PANDOLFO, M; MUNARO, M; COCOZZA, S; REDOLFI, EM; PIANESE, L; CAVALCANTI, F; MONTICELLI, A; DIDONATO, S
A NEW CYS1678TYR MUTATION RESPONSIBLE OF LGMD2B IDENTIFIED IN A FAMILY FROM SOUTHERN ITALY 1-gen-2021 Spadafora, Patrizia; Qualtieri, Antonio; Cavalcanti, Francesca; Lanza, Pierluigi; Gallo, Olivier; DI PALMA, Gemma; Citrigno, Luigi
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 1-gen-1998 De Michele G; De Fusco M; Cavalcanti F; Filla A; Marconi R; Volpe G; MONTICELLI A; Ballabio A; Casari G; Cocozza S
A new mutation detected by NGS in MT-ATP6 gene associated with MELAS and in silico 3D protein analysis 1-gen-2023 Francesca Cavalcanti; Luigi Citrigno; Patrizia Spadafora; Selene De Benedittis; Olivier Gallo; Gemma Di Palma; Antonio Qualtieri
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B 1-gen-2022 Spadafora, Patrizia; Qualtieri, Antonio; Cavalcanti, Francesca; DI PALMA, Gemma; Gallo, Olivier; DE BENEDITTIS, Selene; Cerantonio, Annamaria; Citrigno, Luigi
A study of depression in patients with epilepsy 1-gen-2004 Romeo, N.; Caracciolo, M.; Di Palma, G.; Cavalcanti, F.; Bastone, L.; Bagala, A.; Ferraro, T.; Crescibene, L.
Accuracy of clinical diagnostic criteria for Friedreich's ataxia. 1-gen-2000 Filla, A; De Michele, G; Coppola, G; Federico, A; Vita, G; Toscano, A; Uncini, A; Pisanelli, P; Barone, P; Scarano, V; Perretti, A; Santoro, L; Monticelli, A; Cavalcanti, F; Caruso, G; Cocozza, S
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient 1-gen-2007 Cavalcanti, F; Kidd, T; Patitucci, A; Valentino, P; Bono, F; Nisticò, R; Quattrone, A
An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient. 1-gen-2009 Cavalcanti, F; Kidd, T; Patitucci, A; Valentino, P; Bono, F; Nisticò, R; Quattrone, A
Analysis of GAA repeat interruptions in a large panel of Friedreich ataxia patient DNA samples 1-gen-2017 Almahdawi, Sahar; Ging, Heather; Bayot, Aurelian; Cavalcanti, Francesca; LA COGNATA, Valentina; Cavallaro, Sebastiano; Giunti, Paola; Pook, Mark
Arg143Ser is the most frequent variant in Limb Girdle Muscular Dystrophy-R9 in southern Italy 1-gen-2022 Patrizia Spadafora; Luigi Citrigno; Francesca Cavalcanti; Gemma Di Palma, Olivier Gallo; Antonio Qualtieri
ATAXIN-1 AND ATAXIN-2 INTERMEDIATE-LENGTH POLY-Q EXPANSIONS IN ALS PATIENTS 1-gen-2012 Spataro, Rossella; Sproviero, William; Phd, ; Mazzei, Rosalucia; Cavalcanti, Francesca; Condino, Francesca; Colletti, Tiziana; La Bella, Vincenzo; L Conforti, Francesca
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis 1-gen-2012 Conforti FL; Spataro R; Sproviero W; Mazzei R; Cavalcanti F; Condino F; Simone IL; Logroscino G; Patitucci A; Magariello A; Muglia M; Rodolico C; Valentino P; Bono F; Colletti T; Monsurrò MR; Gambardella A; La Bella V.
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene 1-gen-2000 De Michele, G.; Filla, Alessandro; Cavalcanti, F.; Tammaro, A.; Monticelli, A.; Pianese, L.; Di Salle, F.; Perretti, A.; Santoro, L.; Caruso, G.; Cocozza, S.
Biomarkers and outcome parameters: A global natural history study on SORD neuropathy 1-gen-2022 Maike Dohrn; Andrea Cortese; Riccardo Curro; Pavel Seeman; Petra Lassuthova; Tanya Stojkovic; Simon Hammans; Stefano Previtali; Alessandra Bolino; Angelo Schenone; Marina Kennerson; Ricardo Rojas Garcia; Teresa Sevilla; Fiore Manganelli; Ruxu Zhang; Katrin Hahn; Beate SchlotterWeigel; Kristl Claeys; Robert Brunkhorst; Yesim Parman; Francesca Cavalcanti; Henry Houlden; Steven Scherer; David Hermann; Davide Pareyson; Mary Reilly; Michael Shy; Stephan Züchner; for the SORD natural history study group
Broadened Friedreich's ataxia phenotype after gene cloning: Minimal GAA expansion causes late-onset spastic ataxia 1-gen-1997 Ragno, M; De Michele, G; Cavalcanti, F; Pianese, L; Monticelli, A; Curatola, L; Bollettini, F; Cocozza, S; Caruso, G; Santoro, L; Filla, Alessandro
CFS levels of myelin basic protein in multiple sclerosis 1-gen-2004 Bastone, L.; Bagala, A.; Ferraro, T.; Casaletto, M.; Romeo, N.; Di Palma, G.; Cavalcanti, F.; Crescibene, L.
Childhood onset of Friedreich ataxia: A clinical and genetic study of 36 cases 1-gen-1996 De Michele, G.; Di Maio, L.; Filla, A.; Majello, M.; Cocozza, S.; Cavalcanti, F.; Mirante, E.; Campanella, G.
CLINICAL AND GENETIC-HETEROGENEITY IN EARLY ONSET CEREBELLAR-ATAXIA WITH RETAINED TENDON REFLEXES 1-gen-1990 Filla, A; Demichele, G; Cavalcanti, F; Perretti, A; Santoro, L; Barbieri, F; Darienzo, G; Campanella, G