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8. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Vill K; Schwartz O; Blaschek A; Gläser D; Nennstiel U; Wirth B; Burggraf S; Röschinger W; Becker M; Czibere L; Durner J; Eggermann K; Olgemöller B; Harms E; Schara U; Kölbel H; Müller-Felber W Orphanet J Rare Dis; 2021 Mar; 16(1):153. PubMed ID: 33789695 [TBL] [Abstract][Full Text] [Related]
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12. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy. Vidal-Folch N; Gavrilov D; Raymond K; Rinaldo P; Tortorelli S; Matern D; Oglesbee D Clin Chem; 2018 Dec; 64(12):1753-1761. PubMed ID: 30352867 [TBL] [Abstract][Full Text] [Related]
13. Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion. Niba ETE; Rochmah MA; Harahap NIF; Awano H; Morioka I; Iijima K; Takeshima Y; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Matsuo M; Nishio H; Shinohara M Kobe J Med Sci; 2019 Jul; 65(2):E44-E48. PubMed ID: 31956255 [TBL] [Abstract][Full Text] [Related]
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17. Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis. Abiusi E; Vaisfeld A; Fiori S; Novelli A; Spartano S; Faggiano MV; Giovanniello T; Angeloni A; Vento G; Santoloci R; Gigli F; D'Amico A; Costa S; Porzi A; Panella M; Ticci C; Daniotti M; Sacchini M; Boschi I; Dani C; Agostiniani R; Bertini E; Lanzone A; Lamarca G; Genuardi M; Pane M; Donati MA; Mercuri E; Tiziano FD; J Med Genet; 2023 Jul; 60(7):697-705. PubMed ID: 36414255 [TBL] [Abstract][Full Text] [Related]
18. Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis. Wijaya YOS; Nishio H; Niba ETE; Shiroshita T; Kato M; Bouike Y; Tode C; Ar Rochmah M; Harahap NIF; Nurputra DK; Okamoto K; Saito T; Takeuchi A; Lai PS; Yamaguchi S; Shinohara M Genet Test Mol Biomarkers; 2021 Apr; 25(4):293-301. PubMed ID: 33877896 [No Abstract] [Full Text] [Related]
19. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. De Vivo DC; Bertini E; Swoboda KJ; Hwu WL; Crawford TO; Finkel RS; Kirschner J; Kuntz NL; Parsons JA; Ryan MM; Butterfield RJ; Topaloglu H; Ben-Omran T; Sansone VA; Jong YJ; Shu F; Staropoli JF; Kerr D; Sandrock AW; Stebbins C; Petrillo M; Braley G; Johnson K; Foster R; Gheuens S; Bhan I; Reyna SP; Fradette S; Farwell W; Neuromuscul Disord; 2019 Nov; 29(11):842-856. PubMed ID: 31704158 [TBL] [Abstract][Full Text] [Related]