Valeria Orsetti
University of Padua
5 Papers
77 Citations
Valeria Orsetti is an academic researcher from University of Padua. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Genotype. The author has an hindex of 5, co-authored 5 publications.
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Papers
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis
Lucia Corrado,Roberto Del Bo,Barbara Castellotti,Antonia Ratti,Cristina Cereda,Silvana Penco,Gianni Sorarù,Yari Carlomagno,S. Ghezzi,Viviana Pensato,Claudia Colombrita,Stella Gagliardi,Lorena Cozzi,Valeria Orsetti,Michelangelo Mancuso,Gabriele Siciliano,Letizia Mazzini,Giacomo P. Comi,Cinzia Gellera,Mauro Ceroni,Sandra D'Alfonso,Vincenzo Silani +21 more
TL;DR: The results show that FUS missense mutations are present in 0.7% of Italian SALS cases, and confirm the previous mutational frequency reported in FALS (4.4%).
185
Natural history of upper motor neuron-dominant ALS
Gianni Sorarù,Mario Ermani,Giancarlo Logroscino,Arianna Palmieri,Carla D' Ascenzo,Valeria Orsetti,Marco Volpe,Valentina Cima,Gabriella Zara,Elena Pegoraro,Corrado Angelini +10 more
TL;DR: There is both a different pattern of disability and longer survival in UMN-dominant ALS compared to classic ALS patients, and the differences in disease progression between the U MN-Dominant ALS and typical ALS patients proved significant.
35
ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion
Gianni Sorarù,Maurizio Clementi,Monica Forzan,Valeria Orsetti,C. D'Ascenzo,G. Querin,Arianna Palmieri,Mario Ermani,Corrado Angelini,Elena Pegoraro +9 more
TL;DR: The length of the polyQ expansion in 247 patients with ALS was determined and correlated clinical phenotype in the (CAG)24–33 expansion patients with those with a CAG expansion below 24 repeats were correlated with the ATXN2 encoding gene.
32
Genetic Variation in KIFAP3 Is Associated with an Upper Motor Neuron-Predominant Phenotype in Amyotrophic Lateral Sclerosis
Valeria Orsetti,Elena Pegoraro,Valentina Cima,C. D'Ascenzo,Arianna Palmieri,Giorgia Querin,Marco Volpe,Mario Ermani,Corrado Angelini,Gianni Sorarù +9 more
TL;DR: The incidence of the UMN-ALS phenotype in the CC patients of this cohort supports the hypothesis that the SNP rs1541160 within the KIFAP3 gene is a potential modifier of the ALS phenotype.
17
TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis.
Gianni Sorarù,Valeria Orsetti,Emanuele Buratti,Francisco E. Baralle,Valentina Cima,Marco Volpe,C. D'Ascenzo,Arianna Palmieri,Kostantinos Koutsikos,Elena Pegoraro,Corrado Angelini +10 more
TL;DR: The results suggest that TDP-43 pathology is probably confined to the central nervous system in ALS.