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International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, Moriyón-Iglesias T, Márquez S, Markham L, Twede H, Lortz A, Olson L, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A, López-Granados E; Wolf-Hirschhorn Spain's Working Group; Douglas D, Lapunzina P. Nevado J, et al. Among authors: newcomb t. Am J Med Genet A. 2020 Jan;182(1):257-267. doi: 10.1002/ajmg.a.61406. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769173
New therapeutic approaches to spinal muscular atrophy.
Lewelt A, Newcomb TM, Swoboda KJ. Lewelt A, et al. 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. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19. Neurology. 2014. PMID: 24647030 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: newcomb tm. PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. PLoS One. 2015. PMID: 25996915 Free PMC article.
77 results