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Sfoglia per AUTORE
SERI M
Collezione AOU Città della Salute di Torino

Items : 7

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network. in Neurology. Genetics / Neurol Genet. 2022 Mar 30;8(2):e664. doi: 10.1212/NXG.0000000000000664. eCollection 2022 Apr.

2022
AOU Città della Salute di Torino

Casali C; Melone MAB; Santorelli FM; Silvestri G; Orlacchio A; Vazza G; Ulgheri L; Trovato R; Travaglini L; Tessa A; Straccia G; Stefan C; Seri M; Scarlato M; Sampaolo S; Rumore R; Romano S; Rizzo G; Ricca I; Plumari M; Petrucci A; Pegoraro E; Orsi L; Orologio I; Nicita F; Musumeci O; Moroni R; Mignarri A; Massa R; et alii...

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. in European journal of human genetics : EJHG / Eur J Hum Genet. 2020 Nov;28(11):1602-1614. doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17.

2020
AOU Città della Salute di Torino

Seri M; Furini S; Bruttini M; Asselta R; Brusco A; Baldassarri M; Valentino F; Trezza A; Torella A; Pippucci T; Musacchia F; Marconi C; Giliberti A; Doddato G; Bruselles A; Birolo G; Ciolfi A; Spiga O; Tita R; Benetti E; Nigro V; Matullo G; Tartaglia M; Mari F; Renieri A; Pinto AM;

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families. in Frontiers in genetics / Front Genet. 2020 May 7;11:464. doi: 10.3389/fgene.2020.00464. eCollection 2020.

2020
AOU Città della Salute di Torino

Pasini A; Mencarelli F; Cantone R; Mancini E; Grosso E; Faletra F; Pariali M; De Fanti S; Mattiaccio A; Ambrosini E; Cristalli CP; Aiello V; Minardi R; Capelli I; Graziano C; Bin S; Mantovani V; Wischmeijer A; Sciascia N; Seri M; La Manna G;

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. in Frontiers in genetics / Front Genet. 2018 Dec 21;9:681. doi: 10.3389/fgene.2018.00681. eCollection 2018.

2018
AOU Città della Salute di Torino

Sensi A; Sirchia F; Grosso E; Faletra F; Gajendrarao P; La Bianca M; Brumat M; Ambrosetti U; Ghiselli S; Orzan E; Morgutti M; Pecile V; Cappellani S; Lenarduzzi S; Morgan A; Graziano C; Seri M; Gasparini P; Girotto G; Morgan A; Lenarduzzi S; Cappellani S; Pecile V; Morgutti M; Orzan E; Ghiselli S; Ambrosetti U; Brumat M; Gajendrarao P; et alii...

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study. in Frontiers in neurology / Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.

2018
AOU Città della Salute di Torino

Pons MR; Pochiero F; Pini A; Petrucci A; Perna A; Pegoraro E; Musumeci O; Milone R; Mignarri A; Melone MAB; Massacesi L; Mari F; Marcotulli C; Mandich P; Malandrini A; Marques Louren?o C; Lieto M; Kariminejad A; Gurrieri F; Graziano C; Guerrini R; Gigli GL; Gemignani F; Gallone S; Fini N; Fiorillo C; Felicori M; Di Iorio G; Donadio V; et alii...

Messenger RNA processing is altered in autosomal dominant leukodystrophy. in Human molecular genetics / Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225.

2017
AOU Città della Salute di Torino

Bartoletti-Stella A; Gasparini L; Giacomini C; Corrado P; Terlizzi R; Giorgio E; Magini P; Seri M; Baruzzi A; Parchi P; Brusco A; Cortelli P; Capellari S;

Messenger RNA processing is altered in autosomal dominant leukodystrophy. in Human molecular genetics / Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30.

2015
AOU Città della Salute di Torino

Bartoletti-Stella A; Gasparini L; Giacomini C; Corrado P; Terlizzi R; Giorgio E; Magini P; Seri M; Baruzzi A; Parchi P; Brusco A; Cortelli P; Capellari S;