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7. The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. Oliveira J; Martins M; Pinto Leite R; Sousa M; Santos R Clin Genet; 2017 Oct; 92(4):434-439. PubMed ID: 28218388 [TBL] [Abstract][Full Text] [Related]
8. ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Villar-Quiles RN; Catervi F; Cabet E; Juntas-Morales R; Genetti CA; Gidaro T; Koparir A; Yüksel A; Coppens S; Deconinck N; Pierce-Hoffman E; Lornage X; Durigneux J; Laporte J; Rendu J; Romero NB; Beggs AH; Servais L; Cossée M; Olivé M; Böhm J; Duband-Goulet I; Ferreiro A Ann Neurol; 2020 Feb; 87(2):217-232. PubMed ID: 31794073 [TBL] [Abstract][Full Text] [Related]
9. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Töpf A; Pyle A; Griffin H; Matalonga L; Schon K; ; ; Sickmann A; Schara-Schmidt U; Hentschel A; Chinnery PF; Kölbel H; Roos A; Horvath R Eur J Hum Genet; 2021 Sep; 29(9):1348-1353. PubMed ID: 34075209 [TBL] [Abstract][Full Text] [Related]
10. Discovery of a neuromuscular syndrome caused by biallelic variants in Nair D; Li D; Erdogan H; Yoon A; Harr MH; Bergant G; Peterlin B; Škrjanec Pušenjak M; Jayakar P; Pfundt R; Jansen S; McWalter K; Sidhu A; Saliganan S; Agolini E; Jacob A; Pasquier J; Arash R; Kahrizi K; Najmabadi H; Ropers HH; Bhoj EJ HGG Adv; 2021 Apr; 2(2):100024. PubMed ID: 35047834 [TBL] [Abstract][Full Text] [Related]
11. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Davignon L; Chauveau C; Julien C; Dill C; Duband-Goulet I; Cabet E; Buendia B; Lilienbaum A; Rendu J; Minot MC; Guichet A; Allamand V; Vadrot N; Fauré J; Odent S; Lazaro L; Leroy JP; Marcorelles P; Dubourg O; Ferreiro A Hum Mol Genet; 2016 Apr; 25(8):1559-73. PubMed ID: 27008887 [TBL] [Abstract][Full Text] [Related]
12. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). Rosano KK; Wegner DJ; Shinawi M; Baldridge D; Bucelli RC; Dahiya S; White FV; Willing MC; McAllister W; Taft RJ; Bluske K; Buchanan A; Cole FS; Wambach JA Am J Med Genet A; 2021 Jul; 185(7):2190-2197. PubMed ID: 33931933 [TBL] [Abstract][Full Text] [Related]
13. Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene. Sharova M; Guseva D; Kurenkov A; Novoselova O; Murtazina A; Skoblov M Am J Med Genet A; 2022 Oct; 188(10):3100-3105. PubMed ID: 35838082 [TBL] [Abstract][Full Text] [Related]
14. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. Giuffrida MG; Mastromoro G; Guida V; Truglio M; Fabbretti M; Torres B; Mazza T; De Luca A; Roggini M; Bernardini L; Pizzuti A Am J Med Genet A; 2020 Mar; 182(3):508-512. PubMed ID: 31880396 [TBL] [Abstract][Full Text] [Related]
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19. RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage. Soll JM; Brickner JR; Mudge MC; Mosammaparast N J Biol Chem; 2018 Aug; 293(35):13524-13533. PubMed ID: 29997253 [TBL] [Abstract][Full Text] [Related]
20. Expanding the phenotype of DYNC1H1-associated diseases with a rare variant resulting in spinal muscular atrophy with lower extremity predominance (SMA-LED) and upper motor neuron signs. Lee J; Millington P; Dayasiri K; Ramdas S; Jayawant S; Anand G Turk J Pediatr; 2023; 65(3):531-535. PubMed ID: 37395972 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]