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Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.
Lee BH, Deng S, Chiriboga CA, Kay DM, Irumudomon O, Laureta E, Delfiner L, Treidler SO, Anziska Y, Sakonju A, Kois C, Farooq O, Engelstad K, Laurenzano A, Hogan K, Caggana M, Saavedra-Matiz CA, Stevens CF, Ciafaloni E. Lee BH, et al. Among authors: ciafaloni e. 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. Among authors: ciafaloni e. 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.
Combination therapy with nusinersen and AVXS-101 in SMA type 1.
Lee BH, Collins E, Lewis L, Guntrum D, Eichinger K, Voter K, Abdel-Hamid HZ, Ciafaloni E. Lee BH, et al. Among authors: ciafaloni e. Neurology. 2019 Oct 1;93(14):640-641. doi: 10.1212/WNL.0000000000008207. Epub 2019 Sep 5. Neurology. 2019. PMID: 31488615 No abstract available.
Newborn screening for Krabbe disease: the New York State model.
Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP. Duffner PK, et al. Among authors: ciafaloni e. Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010. Pediatr Neurol. 2009. PMID: 19302934
128 results