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CITRIGNO, LUIGI

CITRIGNO, LUIGI  

Istituto per la Ricerca e l'Innovazione Biomedica -IRIB  

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Titolo Data di pubblicazione Autore(i) File
A 71-nucleotide Deletion in the Periaxin Gene in an Italian Patient With Late-Onset Slowly Progressive Demyelinating CMT 1-gen-2020 Citrigno, Luigi; Zoccolella, Stefano; Lastella, Patrizia; Laura Simone, Isabella; Muglia, Maria
A Blood-Based Molecular Clock for Biological Age Estimation 1-gen-2022 Paparazzo, Ersilia; Geracitano, Silvana; Lagani, Vincenzo; Bartolomeo, Denise; Aurora Aceto, Mirella; D'Aquila, Patrizia; Citrigno, Luigi; Bellizzi, Dina; Passarino, Giuseppe; Montesanto, Alberto
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 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 Angiogenin mutation a sporadic patient Amyotrophic Lateral Sclerosis from southern Italy 1-gen-2007 T. Sprovieri; M. Fusaro; C. Ungaro; R. Mazzei; A. Magariello; A. Patitucci; L. Citrigno; V. La Bella;A. Gabriele; M. Muglia; F.L. Conforti
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 novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness 1-gen-2014 Muglia M.; Citrigno L.; D'Errico E.; Magariello A.; Distaso E.; Gasparro A.A.; Scarafino A.; Patitucci A.; Conforti F.L.; Mazzei R.; Cortese R.; Tortelli R.; L. Simone I.
A novel locus for Autosomal Dominant Distal Motor Neuronopathy maps to chromosome 4q-ter 1-gen-2007 Muglia, Maria; Magariello, Angela; Citrigno, Luigi; Passamonti, Luca; Patitucci, Alessandra; Conforti, FRANCESCA LUISA; Gabriele, ANNA LIA; Mazzei, Rosalucia; Sprovieri, Teresa; Ungaro, Carmine; Bellesi, Michele; Quattrone, Aldo
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. 1-gen-2008 Muglia, M; Magariello, A; Citrigno, L; Passamonti, L; Sprovieri, T; Conforti, Fl; Mazzei, R; Patitucci, A; Gabriele, Al; Ungaro, C; Bellesi, M; Quattrone, A
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia 1-gen-2012 A. Magariello; C. Tortorella; A. Patitucci; R. Tortelli; M. Liguori; R. Mazzei; F. L. Conforti; L. Citrigno; C. Ungaro; I. L. Simone; M. Muglia
A NOVEL MUTATION IN CX32 IDENTIFIED IN A PATIENT WITH DEMYELINATING SENSORY-MOTOR NEUROPATHY AND SECONDARY AXONOPATHY 1-gen-2011 A. Patitucci; C. Tortorella; M. Liguori; A. Magariello; R. Mazzei; FL. Conforti; W. Sproviero; L. Citrigno; A. Morabito; C. Ungaro; A. Gambardella;M. Muglia
A novel mutation in the 3 UTR of SPG4 gene identified in an apparently sporadic patient affected by spastic paraplegia. 1-gen-2008 A Magariello; L Citrigno; A Patitucci; R. Mazzei; FL Conforti; AL Gabriele; T Sprovieri; C Ungaro; M Muglia.
A novel mutation in the exon 7 of the NOTCH3 gene in a patient affected by CADASIL 1-gen-2011 Mazzei, R; Ungaro, C; Conforti, Fl; Ruscica, F; Muglia, M; Sproviero, W; Patitucci, A; Citrigno, L; Magariello, A; Gambardella, A
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. 1-gen-2009 Sprovieri T; Conforti FL; Fiumara A; Mazzei R; Ungaro C; Citrigno L; Muglia M; Arena A; Quattrone A.
A Novel Mutation In The X-Linked Cyclin-Dependent Kinase-Like 5 (CDKL5) Gene Associated With A Severe Rett Phenotype. 1-gen-2008 Sprovieri, T; Fiumara, A; Mazzei, R; Ungaro, C; Magariello, A; Patitucci, A; Citrigno, L; Arena, A; Gabriele, Al; Muglia, M; Conforti, Fl
A Novel Mutation in the X-Linked Cyclin-Dependent Kinaselike 5 (CDKL5) Gene Associated with a Severe Rett Phenotype 1-gen-2008 F. L. Conforti; T. Sprovieri; A. Fiumara; R. Mazzei; C. Ungaro; A. Magariello; A. Patitucci; L. Citrigno; A. Arena; A. Gabriele; M. Muglia; A. Quattrone.
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1 1-gen-2011 Gabriele, Al; Ruggieri, M; Patitucci, A; Magariello, A; Conforti, Fl; Mazzei, R; Muglia, M; Ungaro, C; Di Palma, G; Citrigno, L; Sproviero, W; Gambardella, A; Quattrone, A
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1. 1-gen-2010 Gabriele, Al; Ruggeri, M; Muglia, M; Patitucci, A; Magariello, A; Mazzei, R; Conforti, Fl; Ungaro, C; Di Palma, G; Citrigno, L; Sproviero, W; Gambardella, A; Quattrone, A
A Novel Notch3 Gene Mutation In A Patient With Cadasil From Southern Italy 1-gen-2007 Ungaro, C; Conforti, Fl; Muglia, M; Lanza, Pl; Patitucci, A; Magariello, A; Gabriele, Al; Citrigno, L; Mazzei, R
A novel NOTCH3 gene mutation in a patient with CADASIL from Southern Italy 1-gen-2007 Mazzei, R; Guidetti, D; Ungaro, C; Conforti, Fl; Muglia, M; G, Cenacchi; Lanza, P; Patitucci, A; Sprovieri, T; Riguzzi, P; Magariello, A; Gabriele, Al; Citrigno, L; Preda, P; Quattrone, A