RE-BVS – Piemonte Repository

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

Items : 5

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;

Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. in Nature communications / Nat Commun. 2023 Oct 9;14(1):6301. doi: 10.1038/s41467-023-42123-7.

2023
AOU Città della Salute di Torino

Melo US; Jatzlau J; Prada-Medina CA; Flex E; Hartmann S; Ali S; Schöpflin R; Bernardini L; Ciolfi A; Moeinzadeh MH; Klever MK; Altay A; Vallecillo-García P; Carpentieri G; Delledonne M; Ort MJ; Schwestka M; Ferrero GB; Tartaglia M; Brusco A; Gossen M; Strunk D; Geißler S; Mundlos S; Stricker S; Knaus P; Giorgio E; Spielmann M;

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. in Nature communications / Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8.

2023
AOU Città della Salute di Torino

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. in Clinical genetics / Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.

2017
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

De Rubeis S; Pasini B; Grosso E; Buxbaum JD; Cirillo Silengo M; Provero P; De Marchi M; Restagno G; Pelle A; Giachino DF; Savin E; Gandione M; Brussino A; Ferrero M; Mancini C; Giorgio E; Cavalieri S; Talarico F; Pappi P; Zacchetti G; Zonta A; Ungari S; Sirchia F; Sorasio L; Naretto VG; Maffè A; Arduino C; Mandrile G; Keller R; et alii...

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). in Human molecular genetics / Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.

2015
AOU Città della Salute di Torino

Giorgio E; Robyr D; Spielmann M; Ferrero E; Di Gregorio E; Imperiale D; Vaula G; Stamoulis G; Santoni F; Atzori C; Gasparini L; Ferrera D; Canale C; Guipponi M; Pennacchio LA; Antonarakis SE; Brussino A; Brusco A;