Newcomb TM - Search Results

1

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: newcomb tm. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19. Neurology. 2014. PMID: 24647030 Free PMC article.

2

New therapeutic approaches to spinal muscular atrophy.

Lewelt A, Newcomb TM, Swoboda KJ. Lewelt A, et al. Among authors: newcomb tm. 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.

3

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Sweney MT, Newcomb TM, Swoboda KJ. Sweney MT, et al. Among authors: newcomb tm. Pediatr Neurol. 2015 Jan;52(1):56-64. doi: 10.1016/j.pediatrneurol.2014.09.015. Epub 2014 Oct 13. Pediatr Neurol. 2015. PMID: 25447930 Free PMC article. Review.

4

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Bend EG, Si Y, Stevenson DA, Bayrak-Toydemir P, Newcomb TM, Jorgensen EM, Swoboda KJ. Bend EG, et al. Among authors: newcomb tm. Neurology. 2016 Sep 13;87(11):1131-9. doi: 10.1212/WNL.0000000000003095. Epub 2016 Aug 24. Neurology. 2016. PMID: 27558372 Free PMC article.

5

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: newcomb tm. Child Neurol Open. 2018 Jul 23;5:2329048X18789282. doi: 10.1177/2329048X18789282. eCollection 2018. Child Neurol Open. 2018. PMID: 30046645 Free PMC article.

6

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. PLoS One. 2016 Mar 8;11(3):e0150640. doi: 10.1371/journal.pone.0150640. eCollection 2016. PLoS One. 2016. PMID: 26953792 Free PMC article.

7

Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy.

Lemke D, Rothwell E, Newcomb TM, Swoboda KJ. Lemke D, et al. Among authors: newcomb tm. Pediatr Phys Ther. 2014 Summer;26(2):237-44. doi: 10.1097/PEP.0000000000000027. Pediatr Phys Ther. 2014. PMID: 24675128 Free PMC article.

8

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.

Ostrander BEP, Butterfield RJ, Pedersen BS, Farrell AJ, Layer RM, Ward A, Miller C, DiSera T, Filloux FM, Candee MS, Newcomb T, Bonkowsky JL, Marth GT, Quinlan AR. Ostrander BEP, et al. NPJ Genom Med. 2018 Aug 13;3:22. doi: 10.1038/s41525-018-0061-8. eCollection 2018. NPJ Genom Med. 2018. PMID: 30109124 Free PMC article.

9

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM. Swoboda KJ, et al. Among authors: newcomb tm. Am J Med Genet A. 2014 Jan;164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259288 Free PMC article.

10

Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program.

Johnson NE, Butterfield RJ, Mayne K, Newcomb T, Imburgia C, Dunn D, Duval B, Feldkamp ML, Weiss RB. Johnson NE, et al. Neurology. 2021 Feb 16;96(7):e1045-e1053. doi: 10.1212/WNL.0000000000011425. Epub 2021 Jan 20. Neurology. 2021. PMID: 33472919 Free PMC article.

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