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Francesco Tiziano

Research Profile

Disorders

Chemicals & Drugs

Physiology

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Publications

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A Capalbo; A Cappai; C Carcassi; A Ciardulli; A Farcomeni; Anna Maria Fulghesu; Maria Francesca Gangale; Antonio Lanzone; D Martinez; A Morciano; F Moro; G Neri; C Palla; Francesca Sagnella; F Spettu; Rosanna Apa; M L Uras; Francesco D Tiziano
The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population.
Adele D'Amico; Eugenio Mercuri; Francesco D Tiziano; Enrico Bertini
Spinal muscular atrophy.
Francesco D Tiziano; Rosa Lomastro; Anna Maria Pinto; Sonia Messina; Adele D'Amico; Stefania Fiori; Carla Angelozzi; Marika Pane; Eugenio Mercuri; Enrico Bertini; Giovanni Neri; Christina Brahe
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.

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All Publications

2012: A Capalbo; A Cappai; C Carcassi; A Ciardulli; A Farcomeni; Anna Maria Fulghesu; Maria Francesca Gangale; Antonio Lanzone; D Martinez; A Morciano; F Moro; G Neri; C Palla; Francesca Sagnella; F Spettu; Rosanna Apa; M L Uras; Francesco D Tiziano
The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2·7-fold increased risk of polycystic ovary syndrome in a Sardinian population.
Clinical endocrinology 2012;77(1):113-9.
2011: Adele D'Amico; Eugenio Mercuri; Francesco D Tiziano; Enrico Bertini
Spinal muscular atrophy.
Orphanet journal of rare diseases 2011;6():71.
2010: Francesco D Tiziano; Rosa Lomastro; Anna Maria Pinto; Sonia Messina; Adele D'Amico; Stefania Fiori; Carla Angelozzi; Marika Pane; Eugenio Mercuri; Enrico Bertini; Giovanni Neri; Christina Brahe
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.
Journal of medical genetics 2010;47(12):856-8.
2010: Alessandra Bizzarro; V Guglielmi; R Lomastro; Alessandro Valenza; A Lauria; Camillo Marra; M C Silveri; Francesco D Tiziano; Christina Brahe; C Masullo
BuChE K variant is decreased in Alzheimer's disease not in fronto-temporal dementia.
Journal of neural transmission (Vienna, Austria : 1996) 2010;117(3):377-83.
2010: Francesco D Tiziano; Giovanni Neri; Christina Brahe
Biomarkers in rare disorders: the experience with spinal muscular atrophy.
International journal of molecular sciences 2010;12(1):24-38.
2010: Francesco D Tiziano; Anna Maria Pinto; Stefania Fiori; Rosa Lomastro; Sonia Messina; Claudio Bruno; Antonella Pini; Marika Pane; Adele D'Amico; Alessandro Ghezzo; Enrico Bertini; Eugenio Mercuri; Giovanni Neri; Christina Brahe
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.
European journal of human genetics : EJHG 2010;18(1):52-8.
2009: Alessandra Bizzarro; Davide Seripa; Adele Acciarri; Maria Giovanna Matera; Alberto Pilotto; Francesco D Tiziano; Christina Brahe; Carlo Masullo
The complex interaction between APOE promoter and AD: an Italian case-control study.
European journal of human genetics : EJHG 2009;17(7):938-45.
2008: Carla Angelozzi; F Borgo; Francesco D Tiziano; A Martella; Giovanni Neri; Christina Brahe
Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells.
Journal of medical genetics 2008;45(1):29-31.
2007: Jeremie Vitte; Coralie Fassier; Francesco D Tiziano; Cécile Dalard; Sabrina Soave; Natacha Roblot; Christina Brahe; Pascale Saugier-Veber; Jean Paul Bonnefont; Judith Melki
Refined characterization of the expression and stability of the SMN gene products.
The American journal of pathology 2007;171(4):1269-80.
2007: Francesco Bussu; Francesco D Tiziano; Arianna Giorgio; Anna Maria Pinto; Eugenio De Corso; Carla Angelozzi; Christina Brahe; Gaetano Paludetti
Argl6gly polymorphism of the beta2-adrenoceptor gene (ADRBeta2) as a susceptibility factor for nasal polyposis.
American journal of rhinology 2007;21(3):378-82.
2007: Francesco D Tiziano; Enrico Bertini; Sonia Messina; Carla Angelozzi; Marika Pane; Adele D'Amico; P Alfieri; S Fiori; R Battini; Angela Berardinelli; P Boffi; Claudio Bruno; Claudio Cini; Carlo Minetti; Tiziana Mongini; Lucia Morandi; Simona Orcesi; Marco Pelliccioni; Antonella Pini; Marcello Villanova; Giuseppe Vita; M Locatelli; Eugenio Mercuri; Christina Brahe
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.
Neuromuscular disorders : NMD 2007;17(5):400-3.
2007: Eugenio Mercuri; Enrico Bertini; Sonia Messina; A Solari; Adele D'Amico; Carla Angelozzi; R Battini; Angela Berardinelli; P Boffi; Claudio Bruno; Claudio Cini; Francesca Colitto; Maria Kinali; Carlo Minetti; Tiziana Mongini; Lucia Morandi; Giovanni Neri; Simona Orcesi; Marika Pane; Marco Pelliccioni; Antonella Pini; Francesco D Tiziano; Marcello Villanova; Giuseppe Vita; Christina Brahe
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.
Neurology 2007;68(1):51-5.
2006: Adele Acciarri; Carlo Masullo; Alessandra Bizzarro; Alessandro Valenza; Davide Quaranta; Camillo Marra; Francesco D Tiziano; Christina Brahe; Davide Seripa; Maria Giovanna Matera; Vito Michele Fazio; Guido Gainotti; antonio daniele
Apoe epsilon2-epsilon4 genotype is a possible risk factor for primary progressive aphasia.
Annals of neurology 2006;59(2):436-7.
2006: Enrico M Trecarichi; Mario Tumbarello; Katleen de Gaetano Donati; Enrica Tamburrini; Roberto Cauda; Christina Brahe; Francesco D Tiziano
Partial protective effect of CCR5-Delta 32 heterozygosity in a cohort of heterosexual Italian HIV-1 exposed uninfected individuals.
AIDS research and therapy 2006;3():22.
2005: Christina Brahe; Tiziana Vitali; Francesco D Tiziano; Carla Angelozzi; Anna Maria Pinto; Federica Borgo; Umberto Moscato; Enrico Bertini; Eugenio Mercuri; Giovanni Neri
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients.
European journal of human genetics : EJHG 2005;13(2):256-9.
2005: Alessandra Bizzarro; Camillo Marra; Adele Acciarri; Alessandro Valenza; Francesco D Tiziano; Christina Brahe; Carlo Masullo
Apolipoprotein E epsilon4 allele differentiates the clinical response to donepezil in Alzheimer's disease.
Dementia and geriatric cognitive disorders 2005;20(4):254-61.
2004: Eugenio Mercuri; Enrico Bertini; Sonia Messina; Marco Pelliccioni; Adele D'Amico; Francesca Colitto; Massimiliano Mirabella; Francesco D Tiziano; Tiziana Vitali; Carla Angelozzi; Maria Kinali; Marion Main; Christina Brahe
Pilot trial of phenylbutyrate in spinal muscular atrophy.
Neuromuscular disorders : NMD 2004;14(2):130-5.
2004: Camillo Marra; Alessandra Bizzarro; antonio daniele; Lara De Luca; Monica Ferraccioli; Alessandro Valenza; Christina Brahe; Francesco D Tiziano; Guido Gainotti; Carlo Masullo
Apolipoprotein E epsilon4 allele differently affects the patterns of neuropsychological presentation in early- and late-onset Alzheimer's disease patients.
Dementia and geriatric cognitive disorders 2004;18(2):125-31.
2004: Catia Andreassi; Carla Angelozzi; Francesco D Tiziano; Tiziana Vitali; Eleonora De Vincenzi; Alma Boninsegna; Marcello Villanova; Enrico Bertini; Antonella Pini; Giovanni Neri; Christina Brahe
Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy.
European journal of human genetics : EJHG 2004;12(1):59-65.
2001: Carmen Cifuentes-Diaz; Tony Frugier; Francesco D Tiziano; E Lacène; Natacha Roblot; Vandana Joshi; M H Moreau; Judith Melki
Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy.
The Journal of cell biology 2001;152(5):1107-14.
2001: V Sossi; A Giuli; Tiziana Vitali; Francesco D Tiziano; Massimiliano Mirabella; A Antonelli; Giovanni Neri; Christina Brahe
Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.
European journal of human genetics : EJHG 2001;9(2):113-20.
2001: Hélène Puccio; Delphine Simon; Mireille Cossée; Paola Criqui-Filipe; Francesco D Tiziano; Judith Melki; Colette Hindelang; R Matyas; Pierre Rustin; Michel Koenig
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
Nature genetics 2001;27(2):181-6.
2000: Tony Frugier; Francesco D Tiziano; Carmen Cifuentes-Diaz; P Miniou; Natacha Roblot; Andrée Dierich; Marianne Le Meur; Judith Melki
Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy.
Human molecular genetics 2000;9(5):849-58.
1999: Tiziana Vitali; V Sossi; Francesco D Tiziano; S Zappata; A Giuli; M Paravatou-Petsotas; Giovanni Neri; Christina Brahe
Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.
Human molecular genetics 1999;8(13):2525-32.
1999: A L Patrizi; Francesco D Tiziano; S Zappata; M A Donati; Giovanni Neri; Christina Brahe
SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis.
European journal of human genetics : EJHG 1999;7(3):301-9.
1996: Christina Brahe; Olivier Clermont; S Zappata; Francesco D Tiziano; Judith Melki; Giovanni Neri
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I.
Human molecular genetics 1996;5(12):1971-6.
1996: S Zappata; Francesco D Tiziano; Giovanni Neri; Christina Brahe
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family.
Human genetics 1996;97(3):315-8.