M
Maria Lieto
Researcher at University of Naples Federico II
Publications - 30
Citations - 359
Maria Lieto is an academic researcher from University of Naples Federico II. The author has contributed to research in topics: Ataxia & Parkinsonism. The author has an hindex of 9, co-authored 29 publications receiving 218 citations. Previous affiliations of Maria Lieto include University of Oxford.
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Journal ArticleDOI
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study
Angelica D'Amore,Alessandra Tessa,Carlo Casali,Maria Teresa Dotti,Alessandro Filla,Gabriella Silvestri,Antonella Antenora,Guja Astrea,Melissa Barghigiani,Roberta Battini,Carla Battisti,Irene Bruno,Cristina Cereda,Clemente Dato,Giuseppe Di Iorio,Vincenzo Donadio,Monica Felicori,Nicola Fini,Chiara Fiorillo,Salvatore Gallone,Federica Gemignani,Gian Luigi Gigli,Claudio Graziano,Renzo Guerrini,Fiorella Gurrieri,Ariana Kariminejad,Maria Lieto,Charles Marques Lourenḉo,Alessandro Malandrini,Paola Mandich,Christian Marcotulli,Francesco Mari,Luca Massacesi,Maria A B Melone,Andrea Mignarri,Roberta Milone,Olimpia Musumeci,Elena Pegoraro,Alessia Perna,Antonio Petrucci,Antonella Pini,Francesca Pochiero,Maria Roser Pons,Ivana Ricca,Salvatore Rossi,Marco Seri,Franco Stanzial,Francesca Tinelli,Antonio Toscano,Mariarosaria Valente,Antonio Federico,Anna Rubegni,Filippo M. Santorelli +52 more
TL;DR: This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings, and its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP.
Journal ArticleDOI
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.
Giovanna De Michele,Maria Lieto,Daniele Galatolo,Elena Salvatore,Sirio Cocozza,Melissa Barghigiani,Alessandra Tessa,Jacopo Baldacci,Sabina Pappatà,Alessandro Filla,Giuseppe De Michele,Filippo M. Santorelli +11 more
TL;DR: The similarity of the described clinical picture with that of SCAR16, an autosomal recessive ataxia caused by biallelic mutations in the same gene, and of spinocerebellar ataxIA type 17, which is considered the main Huntington's disease-like syndrome is emphasized.
Journal ArticleDOI
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Maria Lieto,Vittorio Riso,Daniele Galatolo,G. De Michele,Salvatore Rossi,Melissa Barghigiani,Sirio Cocozza,Giuseppe Pontillo,Rosanna Trovato,Francesco Saccà,Elena Salvatore,Alessandra Tessa,A. Filla,Filippo M. Santorelli,Gabriella Silvestri +14 more
TL;DR: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia associated with cerebellar cognitive‐affective syndrome (CCAS), named SCA48.
Journal ArticleDOI
Degenerative and acquired sporadic adult onset ataxia.
Maria Lieto,Alessandro Roca,Filippo M. Santorelli,Tommasina Fico,Giovanna De Michele,Marta Bellofatto,Francesco Saccà,Giuseppe De Michele,Alessandro Filla +8 more
TL;DR: The diagnosis of sporadic adult onset ataxia is a challenging task since a large collection of hereditary and non-hereditary disorders should be taken into consideration.
Journal ArticleDOI
The Multiple Faces of Spinocerebellar Ataxia type 2.
Antonella Antenora,Carlo Rinaldi,Alessandro Roca,Chiara Pane,Maria Lieto,Maria Lieto,Francesco Saccà,Silvio Peluso,Giuseppe De Michele,Alessandro Filla +9 more
TL;DR: Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families, and occurrence is higher in specific populations such as the Cuban and Southern Italian.