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Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
Neurology. 2022 Oct 3;99(14):e1527-e1537. doi: 10.1212/WNL.0000000000200986.
Neurology. 2022.
PMID: 35835557
Free PMC article.
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Kay DM, Stevens CF, Parker A, Saavedra-Matiz CA, Sack V, Chung WK, Chiriboga CA, Engelstad K, Laureta E, Farooq O, Ciafaloni E, Lee BH, Malek S, Treidler S, Anziska Y, Delfiner L, Sakonju A, Caggana M.
Kay DM, et al.
Genet Med. 2020 Aug;22(8):1296-1302. doi: 10.1038/s41436-020-0824-3. Epub 2020 May 18.
Genet Med. 2020.
PMID: 32418989
Free article.
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Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation.
Deeb R, Veerapandiyan A, Tawil R, Treidler S.
Deeb R, et al.
Neurol Genet. 2018 Oct 25;4(6):e284. doi: 10.1212/NXG.0000000000000284. eCollection 2018 Dec.
Neurol Genet. 2018.
PMID: 30533530
Free PMC article.
No abstract available.
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Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene.
Nwebube C, Bulancea S, Marchidann A, Bello-Espinosa L, Treidler S.
Nwebube C, et al.
Neurol Genet. 2021 Mar 1;7(2):e570. doi: 10.1212/NXG.0000000000000570. eCollection 2021 Apr.
Neurol Genet. 2021.
PMID: 33688580
Free PMC article.
No abstract available.
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