RE-BVS – Piemonte Repository

Sfoglia per AUTORE
MASSA R
Collezione AOU Città della Salute di Torino

Items : 4

Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients. in Clinical epigenetics / Clin Epigenetics. 2024 Oct 22;16(1):148. doi: 10.1186/s13148-024-01747-2.

2024
AOU Città della Salute di Torino
ASL Vercelli

Strafella C; Megalizzi D; Trastulli G; Proietti Piorgo E; Colantoni L; Tasca G; Monforte M; Zampatti S; Primiano G; Sancricca C; Bortolani S; Torchia E; Ravera B; Torri F; Gadaleta G; Risi B; Caria F; Gerardi F; Carraro E; Gioiosa V; Garibaldi M; Tufano L; Frezza E; Massa R; Caltagirone C; Pennisi EM; Petrucci A; Pane M; Frongia A; et alii...

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. in International journal of molecular sciences / Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567.

2022
AOU Città della Salute di Torino

Marinella G; Astrea G; Buchignani B; Cassandrini D; Doccini S; Filosto M; Galatolo D; Gallone S; Giannini F; Lopergolo D; Maioli MA; Magri F; Malandrini A; Mandich P; Mari F; Massa R; Mata S; Melani F; Moggio M; Mongini TE; Pasquariello R; Pegoraro E; Ricci F; Ricci G; Rodolico C; Rubegni A; Siciliano G; Sperti M; Ticci C; et alii...

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...

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification. in Journal of human genetics / J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9.

2019
AOU Alessandria
AOU Città della Salute di Torino

Pasini B; Grosso E; Gallone S; Marrama F; Sirchia F; Quarello P; Rubino E; Bellora S; Carando A; Garelli E; Giorgio E; Massa R; Brussino A; Brusco A;