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Page 1
New therapeutic approaches to spinal muscular atrophy.
Lewelt A, Newcomb TM, Swoboda KJ. Lewelt A, et al. Among authors: swoboda kj. Curr Neurol Neurosci Rep. 2012 Feb;12(1):42-53. doi: 10.1007/s11910-011-0240-9. Curr Neurol Neurosci Rep. 2012. PMID: 22134788 Free PMC article. Review.
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ. Butterfield RJ, et al. Among authors: swoboda kj. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19. Neurology. 2014. PMID: 24647030 Free PMC article.
Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.
Margraf RL, Durtschi J, Krock B, Newcomb TM, Bonkowsky JL, Voelkerding KV, Bayrak-Toydemir P, Lutz RE, Swoboda KJ. Margraf RL, et al. Among authors: swoboda kj. Child Neurol Open. 2018 Jul 23;5:2329048X18789282. doi: 10.1177/2329048X18789282. eCollection 2018. Child Neurol Open. 2018. PMID: 30046645 Free PMC article.
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ. Viollet L, et al. Among authors: swoboda kj. PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. PLoS One. 2015. PMID: 25996915 Free PMC article.
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
Viollet LM, Swoboda KJ, Mao R, Best H, Ha Y, Toutain A, Guyant-Marechal L, Laroche-Raynaud C, Ghorab K, Barthez MA, Pedespan JM, Hernandorena X, Lia AS, Deleuze JF, Masson C, Nelson I, Nectoux J, Si Y. Viollet LM, et al. Among authors: swoboda kj. Eur J Med Genet. 2020 Dec;63(12):104063. doi: 10.1016/j.ejmg.2020.104063. Epub 2020 Sep 16. Eur J Med Genet. 2020. PMID: 32947049
SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials.
Zaworski P, von Herrmann KM, Taylor S, Sunshine SS, McCarthy K, Risher N, Newcomb T, Weetall M, Prior TW, Swoboda KJ, Chen KS, Paushkin S. Zaworski P, et al. Among authors: swoboda kj. PLoS One. 2016 Mar 8;11(3):e0150640. doi: 10.1371/journal.pone.0150640. eCollection 2016. PLoS One. 2016. PMID: 26953792 Free PMC article.
164 results