RE-BVS – Piemonte Repository

Sfoglia per AUTORE
DURR A
Collezione AOU Città della Salute di Torino

Items : 5

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. in Nature genetics / Nat Genet. 2022 Mar;54(3):361. doi: 10.1038/s41588-022-01020-3.

2022
AOU Città della Salute di Torino
AOU Novara
ASL Torino 4
ASL Asti
ASL Biella
ASL Vercelli

Silani V; Weber M; Rouleau GA; Pinto S; de Carvalho M; Petri S; Wallace L; Henders AK; Curtis CJ; Breen G; Sachdev PS; Mather KA; Williams KL; Steyn FJ; Rowe DB; Pamphlett R; Nicholson GA; Ngo ST; Needham M; McCombe PA; Mathers S; Furlong S; Henderson RD; Benyamin B; Kiernan MC; Blair IP; Povedano M; Stevi? Z; Drory V; et alii...

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology. in Nature genetics / Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6.

2021
AOU Città della Salute di Torino
AOU Novara
ASL Torino 4
ASL Asti
ASL Biella
ASL Vercelli

Sachdev PS; Mather KA; Williams KL; Steyn FJ; Rowe DB; Pamphlett R; Nicholson GA; Ngo ST; Needham M; McCombe PA; Mathers S; Furlong S; Henderson RD; Benyamin B; Kiernan MC; Blair IP; Povedano M; Stevi? Z; Drory V; Glava? D; Ravnik-Glava? M; Zidar J; Koritnik B; Rogelj B; Ataulina A; Demeshonok V; Fominykh V; Brylev L; Hübner CA; et alii...

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. in American journal of human genetics / Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.

2015
AOU Città della Salute di Torino

Coutelier M; Blesneac I; Monteil A; Monin ML; Ando K; Mundwiller E; Brusco A; Le Ber I; Anheim M; Castrioto A; Duyckaerts C; Brice A; Durr A; Lory P; Stevanin G;

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. in Brain : a journal of neurology / Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.

2014
AOU Città della Salute di Torino

Tezenas du Montcel S; Durr A; Bauer P; Figueroa KP; Ichikawa Y; Brussino A; Forlani S; Rakowicz M; Schöls L; Mariotti C; van de Warrenburg BP; Orsi L; Giunti P; Filla A; Szymanski S; Klockgether T; Berciano J; Pandolfo M; Boesch S; Melegh B; Timmann D; Mandich P; Camuzat A; Goto J; Ashizawa T; Cazeneuve C; Tsuji S; Pulst SM; Brusco A; et alii...

ELOVL5 mutations cause spinocerebellar ataxia 38. in American journal of human genetics / Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24.

2014
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Boccone L; Caruso D; Funaro A; Tempia F; Brice A; Durr A; Maillet-Vioud M; Giunti P; Padovani A; Costanzi C; Deleuze JF; Imbert J; Papotti MG; Orsi L; Duregon E; Couarch P; Vaula G; Tesson C; Moon YA; Mitro N; Hoxha E; Mura I; Coviello DA; Calcia A; Gaussen M; Mancini C; Ragusa N; Borroni B; Giorgio E; et alii...