SPROVIERI, TERESA

SPROVIERI, TERESA  

Istituto sull'Inquinamento Atmosferico - IIA  

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Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis 1-gen-2020 Ungaro Carmine; Sprovieri Teresa; Morello Giovanna; Perrone Benedetta; Spampinato Antonio Gianmaria; Simone Isabella Laura; Trojsi Francesca; Monsurrò Maria Rosaria; Spataro Rossella; La Bella Vincenzo; Andò Sebastiano; Cavallaro Sebastiano; Conforti Francesca Luisa;
A novel S379A TARDBP mutation associated to late-onset sporadic ALS 1-gen-2019 Sprovieri, Teresa; Ungaro, Carmine; Perrone, Benedetta; Naimo, Giuseppina Daniela; Spataro, Rossella; Cavallaro, Sebastiano; La Bella, Vincenzo; Conforti, Francesca Luisa
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy 1-gen-2019 Giuseppina Daniela Naimo; Maria Guarnaccia; Teresa Sprovieri; Carmine Ungaro; Francesca Luisa Conforti; Sebastiano Andò; Sebastiano Cavallaro
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies 1-gen-2019 Perrone, Benedetta; LA COGNATA, Valentina; Sprovieri, Teresa; Ungaro, Carmine; Luisa Conforti, Francesca; Andò, Sebastiano; Cavallaro, Sebastiano
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy 1-gen-2019 Teresa Sprovieri; Carmine Ungaro; Serena Sivo; Michela Quintiliani; Ilaria Contaldo; Chiara Veredice; Luigi Citrigno; Maria Muglia; Francesca Cavalcanti; Sebastiano Cavallaro; Eugenio Mercuri; Domenica Battaglia.
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report 1-gen-2019 Teresa Sprovieri; Carmine Ungaro; Serena Sivo; Michela Quintiliani;, laria Contaldo; Chiara Veredice; Luigi Citrigno; Maria Muglia; Francesca Cavalcanti; Sebastiano Cavallaro; Eugenio Maria Mercuri; Domenica Battaglia
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
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? 1-gen-2018 Ungaro, Carmine; Mazzei, Rosalucia; Sprovieri, Teresa
The spectrum of ROBO3 mutations in Horizontal Gaze Palsy With Progressive Scoliosis: an update 1-gen-2018 Ungaro, Carmine; Mazzei, Rosalucia; Cavallaro, Sebastiano; Sprovieri, Teresa
Contribution of Cerebrospinal fluid Thymosin ?4 levels to the clinical differentiation of Creutzfeldt-Jakob disease. 1-gen-2012 Le Pera, M; Urso, E; Sprovieri, T; Bossio, S; Aguglia, U; Manna, I; Cupidi, C; Ferraro, T; Gambardella, A; Qualtieri, A; Quattrone, A
Contribution of Cerebrospinal Fluid Thymosin beta 4 Levels to the Clinical Differentiation of Creutzfeldt-Jakob Disease 1-gen-2012 Le Pera, Maria; Urso, Elena; Sprovieri, Teresa; Bossio, Sabrina; Aguglia, Umberto; Manna, Ida; Cupidi, Chiara; Ferraro, Tiziana; Gambardella, Antonio; Qualtieri, Antonio; Quattrone, Aldo
TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. 1-gen-2011 Conforti FL; Sproviero W; Simone IL; Mazzei R; Valentino P; Ungaro C; Magariello A; Patitucci A; La Bella V; Sprovieri T; Tedeschi G; Citrigno L; Gabriele AL; Bono F; Monsurrò MR; Muglia M; Gambardella A; Quattrone A.
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia 1-gen-2010 Magariello, A; Muglia, M; Patitucci, A; Ungaro, C; Mazzei, R; Gabriele, Al; Sprovieri, T; Citrigno, L; Conforti, Fl; Liguori, M; Gambardella, A; Bono, F; Piccoli, T; Patti, F; Zappia, M; Mancuso, M; Iemolo, F; Quattrone, A
Proteomic profiling of cerebrospinal fluid in Creutzfeldt-Jakob disease 1-gen-2010 Qualtieri, A; Urso, E; Le Pera, M; Sprovieri, T; Bossio, S; Gambardella, A; Quattrone, A
Quantification of thymosin beta(4) in human cerebrospinal fluid using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry 1-gen-2010 Urso Elena; Le Pera Maria; Bossio Sabrina; Sprovieri Teresa; Qualtieri Antonio.
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 pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL 1-gen-2009 Ungaro, C; Servillo, P; Mazzei, R; Consoli, D; Conforti, Fl; Sprovieri, T; Lanza, Pl; Quattrone, A
Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia 1-gen-2009 Martino, D; Muglia, M; Abbruzzese, G; Berardelli, A; Girlanda, P; Liguori, M; Livrea, P; Quattrone, A; Roselli, F; Sprovieri, T; Valente, Em; Defazio, G
CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. 1-gen-2009 Ungaro, C; Mazzei, R; Conforti, Fl; Sprovieri, T; Servillo, P; Liguori, M; Citrigno, L; Gabriele, Al; Magariello, A; Patitucci, A; Muglia, M; Quattrone, A
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. 1-gen-2009 Luisa Conforti F; Sprovieri T; Mazzei R; Patitucci A; Ungaro C; Zoccolella S; Magariello A; Bella VL; Tessitore A; Tedeschi G; Simone IL; Majorana G; Valentino P; Citrigno L; Gabriele A; Bono F; Monsurrò MR; Muglia M; Quattrone A.