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POLAK M
Collezione AOU Città della Salute di Torino

Items : 5

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. in Nature communications / Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w.

2025
AOU Città della Salute di Torino

Groeneweg S; van Geest FS; Martín M; Dias M; Frazer J; Medina-Gomez C; Sterenborg RBTM; Wang H; Dolcetta-Capuzzo A; de Rooij LJ; Teumer A; Abaci A; van den Akker ELT; Ambegaonkar GP; Armour CM; Bacos I; Bakhtiani P; Barca D; Bauer AJ; van den Berg SAA; van den Berge A; Bertini E; van Beynum IM; Brunetti-Pierri N; Brunner D; Cappa M; Cappuccio G; Castellotti B; Castiglioni C; et alii...

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. in The Journal of clinical endocrinology and metabolism / J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750.

2022
AOU Città della Salute di Torino

van Geest FS; Groeneweg S; van den Akker ELT; Bacos I; Barca D; van den Berg SAA; Bertini E; Brunner D; Brunetti-Pierri N; Cappa M; Cappuccio G; Chatterjee K; Chesover AD; Christian P; Coutant R; Craiu D; Crock P; Dewey C; Dica A; Dimitri P; Dubey R; Enderli A; Fairchild J; Gallichan J; Garibaldi LR; George B; Hackenberg A; Heinrich B; Huynh T; et alii...

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. in JAMA neurology / JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.

2021
AOU Città della Salute di Torino
AOU Novara

Tremolizzo L; Trojsi F; Torriello A; Tranquilli S; Tedeschi G; Ticca A; Tanel R; Simonini C; Spataro R; Simone I; Sbaiz L; Sideri R; Santarelli M; Salivetto M; Salvi F; Sabatelli M; Salamone P; Riolo G; Riva N; Russo M; Ricci C; Pugliatti M; Quattrini A; Pozzi S; Petrelli C; Petrucci A; Passaniti C; Origone P; Murru MR; et alii...

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. in The lancet. Diabetes & endocrinology / Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4.

2020
AOU Città della Salute di Torino

Groeneweg S; van Geest FS; Abac? A; Alcantud A; Ambegaonkar GP; Armour CM; Bakhtiani P; Barca D; Bertini ES; van Beynum IM; Brunetti-Pierri N; Bugiani M; Cappa M; Cappuccio G; Castellotti B; Castiglioni C; Chatterjee K; de Coo IFM; Coutant R; Craiu D; Crock P; DeGoede C; Demir K; Dica A; Dimitri P; Dolcetta-Capuzzo A; Dremmen MHG; Dubey R; Enderli A; et alii...

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. in Nature genetics / Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.

2016
AOU Città della Salute di Torino
AOU Novara

Casale F; Leigh PN; Hübner CA; Kurth I; Stubendorff B; Prell T; Ringer T; Witte OW; Grosskreutz J; Kiernan MC; Pamphlett R; Rowe DB; Nicholson GA; Fifita JA; McCann EP; Zhang K; Stuit RJ; Blair I; Muller B; Filosto M; Padovani A; Riva N; Penco S; Lunetta C; Zecca C; Capozzo R; Brunetti M; Arcuti S; Moglia C; et alii...