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DI PALMA, GEMMA

DI PALMA, GEMMA  

Istituto per la Ricerca e l'Innovazione Biomedica -IRIB  

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Titolo Data di pubblicazione Autore(i) File
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 1-gen-2024 Citrigno, Luigi; Qualtieri, Antonio; Cerantonio, Annamaria; De Benedittis, Selene; Gallo, Olivier; Di Palma, Gemma; Spadafora, Patrizia; Cavalcanti, Francesca
A new mutation detected by NGS in MT-ATP6 gene associated with MELAS and in silico 3D protein analysis 1-gen-2023 Cavalcanti, Francesca; Citrigno, Luigi; Spadafora, Patrizia; DE BENEDITTIS, Selene; Gallo, Olivier; DI PALMA, Gemma; Qualtieri, Antonio
HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT 1-gen-2023 Patrizia Spadafora; Luigi Citrigno; Selene De Benedittis; Antonio Qualtieri; Francesca Cavalcanti; Gemma Di Palma; Olivier Gallo; Nelide Romeo
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh 1-gen-2023 DE BENEDITTIS, Selene; Spadafora, Patrizia; Gaspari, Marco; I, Gabriele Qualtier; Gallo, Olivier; DI PALMA, Gemma; Cavalcanti, Francesca; Citrigno, Luigi; Qualtieri, Antonio
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
Arg143Ser is the most frequent variant in Limb Girdle Muscular Dystrophy-R9 in southern Italy 1-gen-2022 Spadafora, Patrizia; Citrigno, Luigi; Cavalcanti, Francesca; DI PALMA, Gemma; Gallo, Olivier; Qualtieri, Antonio
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
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
Potential involvement of GRIN2B encoding the NMDA receptor subunit NR2B in the spectrum of Alzheimer's disease 1-gen-2014 Andreoli, Virginia; DE MARCO, ELVIRA VALERIA; Trecroci, Francesca; Cittadella, Rita; DI PALMA, Gemma; Gambardella, Antonio
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
Amyloid beta precursor protein mutation (D678N) in a patient with early-onset familial Alzheimer's disease: clinical characteristics and genetic identification 1-gen-2011 V. Andreoli ; F. Trecroci; A. La Russa; R. Cittadella; M. Liguori; P. Spadafora; G. Di Palma; A. Gambardella; A. Quattrone
D678N mutation in a patient with an early-onset Alzheimer's Disease 1-gen-2011 Trecroci F.; La Russa A.; Cittadella R.; Liguori M.; Spadafora P.; Di Palma G.; Caracciolo M.; Andreoli V
Familial Alzheimer's disease with amyloid precursor protein D678N mutation: a case report 1-gen-2011 Andreoli, V; Trecroci, F; La Russa, A; Liguori, M; Spadafora, P; Di Palma, G; Gambardella, A; Cittadella, R
Molecular characterization of the APP gene in italian patients with familial Alzheimer disease. 1-gen-2011 V. Andreoli; F. Trecroci; A. La Russa; R. Cittadella; P. Spadafora; G. Di Palma; M. Caracciolo; A. Gambardella; A. Quattrone
Presenilin enhancer-2 gene: Identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease 1-gen-2011 Andreoli, Virginia; Trecroci, Francesca; La Russa, Antonella; Cittadella, Rita; Liguori, Maria; Spadafora, Patrizia; Caracciolo, Manuela; Di Palma, Gemma; Colica, Carmela; Gambardella, Antonio; Quattrone, Aldo
A longitudinal observation of brain-derived neurotrophic factor mRNA levels in patients with relapsing-remitting multiple sclerosis. 1-gen-2009 Liguori M; Fera F; Patitucci A; Manna I; Condino F; Valentino P; Telarico P; Cerasa A; Gioia MC; di Palma G; Quattrone A.
NOTCH3 gene mutations in twins with CADASIL 1-gen-2009 Mazzei, R; Ungaro, C; Conforti, Fl; Guidetti, D; Magariello, A; Patitucci, A; DI PALMA, Gemma; Gambardella, A
The DRD2 TaqIA polymorphism associated with changed midbrain volumes in healthy individuals. 1-gen-2009 Cerasa A; Gioia MC; Tarantino P; Labate A; Arabia G; Annesi G; Lanza P; Di Palma G; Blasi V; Quattrone A.
Variations in two lipid metabolizing genes and susceptibility to sporadic Alzheimer s disease. 1-gen-2009 V. Andreoli; F. Trecroci; A. La Russa; R. Cittadella; P. Spadafora; G. Di Palma; M. Caracciolo; A. Quattrone.
Elam-1 genotyping in Italian population with Multiple Sclerosis : molecular characterization of A561C variation. 1-gen-2008 V. Andreoli; R. Cittadella; F. Trecroci; A. La Russa; F. Condino; G. Di Palma; M. Caracciolo; P. Valentino; A. Quattrone.