Rosalucia Mazzei - Dissemin

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All papers authored by Rosalucia Mazzei

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2024 Rosalucia Mazzei

ORCID

, Claudia Genovese

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, Angela Magariello, Alessandra Patitucci, Giampiero Russo, Giuseppe Tagarelli

ORCID

Plants in Menstrual Diseases: A Systematic Study from Italian Folk Medicine on Current Approaches

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2018 Carmine Ungaro

ORCID

, Rosalucia Mazzei

ORCID

, Teresa Sprovieri

Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

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Antonio Qualtieri, Carmine Ungaro, Angelo Bagalà, Silvia Bianchi, Leonardo Pantoni

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, Marcello Moccia, Rosalucia Mazzei

ORCID

Notch3 protein expression in skin fibroblasts from CADASIL patients

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Rosalucia Mazzei

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, Elvira V. De Marco, Olivier Gallo, Giuseppe Tagarelli

Italian folk plant-based remedies to heal headache (XIX-XX century)

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2017 Carmine Ungaro, Sergio Valentini, Antonio Cerasa, Pier Luigi Lanza, Rosalucia Mazzei

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Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case

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2016 Valeria Colaianni, Rosalucia Mazzei

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, Sebastiano Cavallaro

Copy number variations and stroke

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2015 Traynor Bj, Adriano Chiò, La Bella, Johnson Jo, Gabriele Mora, Nalls Ma, F. Giannini, Mario Sabatelli

ORCID

, C. Ricci, G. Mancardi, I. Bartolomei, Claudia Caponnetto, M. Corbo, A. Conte, Bryan J. Traynor and 80 other authors

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients

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2014 M. Muglia, L. Citrigno, E. D'Errico, A. Magariello, E. Distaso, A. A. Gasparro, A. Scarafino, A. Patitucci, F. L. Conforti, R. Mazzei

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ORCID

, R. Tortelli, I. L. Simone

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness

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A. Magariello, L. Citrigno, S. Zuchner, M. Gonzalez, A. Patitucci, V. Sofia, F. L. Conforti, I. Pappalardo, R. Mazzei

ORCID

, C. Ungaro, M. Zappia, M. Muglia

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

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2013 Rosanna Tortelli, Francesca Luisa Conforti, Rosa Cortese

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, Eustachio D'Errico, Eugenio Distaso, Rosalucia Mazzei

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, Carmine Ungaro, Angela Magariello, Antonio Gambardella

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, Giancarlo Logroscino, Isabella Laura Simone

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

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2012 A. Magariello, C. Tortorella, A. Patitucci, R. Tortelli, M. Liguori

ORCID

, R. Mazzei

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, F. L. Conforti, Conforti Fl, L. Citrigno, C. Ungaro, I. L. Simone, M. Muglia

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia

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Francesca L. Conforti, Rossella Spataro, William Sproviero, Rosalucia Mazzei

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, Francesca Cavalcanti, Francesca Condino, Isabella L. Simone, Giancarlo Logroscino, Alessandra Patitucci, Angela Magariello, Maria Muglia, Carmelo Rodolico, Paola Valentino, Francesco Bono, Tiziana Colletti and 3 other authors

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

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Angela Magariello, Carla Tortorella, Luigi Citrigno, Alessandra Patitucci, Rosanna Tortelli, Rosalucia Mazzei

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, Francesca Luisa Conforti, Carmine Ungaro, William Sproviero, Antonio Gambardella

ORCID

, Maria Muglia

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia

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William Sproviero, Vincenzo La Bella, Rosalucia Mazzei

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, Paola Valentino, Carmelo Rodolico, Isabella Laura Simone, Giancarlo Logroscino, Carmine Ungaro, Angela Magariello, Alessandra Patitucci, Gioacchino Tedeschi, Francesca Condino, Rossella Spataro, Francesco Bono, Luigi Citrigno and 5 other authors

Fus Mutations in Sporadic Amyotrophic Lateral Sclerosis: Clinical and Genetic Analysis

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2010 Anna Lia Gabriele, Martino Ruggieri, Alessandra Patitucci, Angela Magariello, Francesca Luisa Conforti, Rosalucia Mazzei

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, Maria Muglia, Carmine Ungaro, Gemma Di Palma, Luigi Citrigno, William Sproviero, Antonio Gambardella

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, Aldo Quattrone

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A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1

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F. L. Conforti, W. Sproviero, I. L. Simone, R. Mazzei

ORCID

, P. Valentino, C. Ungaro, A. Magariello, A. Patitucci, V. La Bella, T. Sprovieri, G. Tedeschi, L. Citrigno, A. L. Gabriele, F. Bono, M. R. Monsurrò and 3 other authors

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

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Rosalucia Mazzei

ORCID

, Carmine Ungaro, Girolamo Garreffa, Francesca Luisa Conforti, Antonella Mollo, Teresa Sprovieri, Pasquale Servillo, Vincenzo Blasi, Olivier Gallo, Antonio Cerasa, Pier Luigi Lanza, Aldo Quattrone

ORCID

Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria.

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2009 Angela Magariello, Maria Muglia, Alessandra Patitucci, Carmine Ungaro, Rosalucia Mazzei

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, Anna Lia Gabriele, Teresa Sprovieri, Luigi Citrigno, Francesca Luisa Conforti, Maria Liguori

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, Antonio Gambardella

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, Francesco Bono, Francesco Patti, Tommaso Piccoli, Mario Zappia and 3 other authors

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

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C. Ungaro, P. Servillo, Rosalucia Mazzei

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, D. Consoli, F. L. Conforti, T. Sprovieri, P. L. Lanza, A. Quattrone

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A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL

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T. Sprovieri, F. L. Conforti, A. Fiumara, R. Mazzei

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, C. Ungaro, L. Citrigno, M. Muglia, A. Arena, A. Quattrone

ORCID

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype

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