Sfoglia per AUTORE
DIMARTINO P
Collezione AOU Città della Salute di Torino

  

Items : 7

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease. in Alzheimer's research & therapy / Alzheimers Res Ther. 2025 Jan 14;17(1):21. doi: 10.1186/s13195-024-01661-y.
2025
AOU Città della Salute di Torino

Rubino E; Italia M; Giorgio E; Boschi S; Dimartino P; Pippucci T; Roveta F; Cambria CM; Elia G; Marcinnò A; Gallone S; Rogaeva E; Antonucci F; Brusco A; Gardoni F; Rainero I;

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy. in Annals of neurology / Ann Neurol. 2024 Nov;96(5):855-870. doi: 10.1002/ana.27038. Epub 2024 Jul 30.
2024
AOU Città della Salute di Torino

Cortelli P; Vaula G; Delatycki MB; Pinto E Vairo F; Ratti S; Manzoli L; Ramazzotti G; Boschetti E; Koufi FD; Pippucci T; Brusco A; Lodi R; Tonon C; Henck J; Breur M; Melo US; Cani I; Basile A; Yumiceba V; Zadorozhna M; Dimartino P; Bugiani M; Spielmann M; Giorgio E;

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mussa A; Banka S; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rooney K; Rzasa J; Dimartino P; Pippucci T; Giorgio E; Rinninella A; Pullano V; Cardaropoli S; Carestiato S; Mandrile G; Palermo F; Marinoni R; Carli D; Di Gregorio E; Ferrero E; Giovenino C; Pavinato L; Rossi Sebastiano M; Trajkova S; Kerkhof J; et alii...

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. in Journal of medical genetics / J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15.
2022
AOU Città della Salute di Torino

Ferrero GB; Buxbaum JD; Dimartino P; De Rubeis S; Colson C; Ranguin K; Giuffrè M; Antona V; Radio FC; Giorgio E; Carli D; Prota V; Pippucci T; Bruselles A; Ciolfi A; Arauz-Garofalo G; Vilaseca M; Gay M; Andreoli C; Sanchiz-Calvo M; Pavinato L; Villamor-Payà M; Tartaglia M; Martinelli S; Stracker TH; Brusco A;

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6.
2021
ASL Città di Torino
AOU Città della Salute di Torino

Brusco A; Keller R; Buxbaum J; Ferrero GB; De Rubeis S; Tartaglia M; Petlichkovski A; Pippucci T; Dimartino P; Radio FC; Bruselles A; Giorgio E; Grosso E; Trajkova S; Pavinato L;

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation. in British journal of haematology / Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20.
2019
AOU Città della Salute di Torino

Dianzani I; Pippucci T; Dimartino P; Carella M; Palumbo O; Crescenzio N; Di Gregorio E; Mancini C; Menegatti E; Carando A; Giorgio E; Quarello P; Garelli E; Ramenghi U; Brusco A; Garelli E; Quarello P; Giorgio E; Carando A; Menegatti E; Mancini C; Di Gregorio E; Crescenzio N; Palumbo O; Carella M; Dimartino P; Pippucci T; Dianzani I; Ramenghi U; et alii...