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Items: 1 to 20 of 114


KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

Duis J, Dean S, Applegate C, Harper A, Xiao R, He W, Dollar JD, Sun LR, Biderman Waberski M, Crawford TO, Hamosh A, Stafstrom CE.

Ann Neurol. 2016 Jul 27. doi: 10.1002/ana.24744. [Epub ahead of print]


Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.

Lefton-Greif MA, Perlman AL, He X, Lederman HM, Crawford TO.

Dev Med Child Neurol. 2016 May 23. doi: 10.1111/dmcn.13156. [Epub ahead of print]


Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.

Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.


SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR.

Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME.

Mol Genet Genomic Med. 2015 Jul;3(4):248-57. doi: 10.1002/mgg3.141. Epub 2015 Mar 21.


Astrocytes influence the severity of spinal muscular atrophy.

Rindt H, Feng Z, Mazzasette C, Glascock JJ, Valdivia D, Pyles N, Crawford TO, Swoboda KJ, Patitucci TN, Ebert AD, Sumner CJ, Ko CP, Lorson CL.

Hum Mol Genet. 2015 Jul 15;24(14):4094-102. doi: 10.1093/hmg/ddv148. Epub 2015 Apr 24.


Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy.

Miller N, Feng Z, Edens BM, Yang B, Shi H, Sze CC, Hong BT, Su SC, Cantu JA, Topczewski J, Crawford TO, Ko CP, Sumner CJ, Ma L, Ma YC.

J Neurosci. 2015 Apr 15;35(15):6038-50. doi: 10.1523/JNEUROSCI.3716-14.2015.


Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.

Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.

Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691.


Motor and cognitive delay in Duchenne muscular dystrophy: implication for early diagnosis.

Mirski KT, Crawford TO.

J Pediatr. 2014 Nov;165(5):1008-10. doi: 10.1016/j.jpeds.2014.07.006. Epub 2014 Aug 19.


Susceptibility-weighted imaging for calcification in Cockayne syndrome.

Wagner MW, Poretti A, Wang T, Crawford TO, Huisman TA, Bosemani T.

J Pediatr. 2014 Aug;165(2):416-416.e1. doi: 10.1016/j.jpeds.2014.04.030. Epub 2014 May 22. No abstract available.


Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives.

Volkow ND, Tomasi D, Wang GJ, Studentsova Y, Margus B, Crawford TO.

Brain. 2014 Jun;137(Pt 6):1753-61. doi: 10.1093/brain/awu092. Epub 2014 Apr 17.


High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report.

Wolf DS, Golden WC, Hoover-Fong J, Applegate C, Cohen BA, Germain-Lee EL, Goldberg MF, Crawford TO, Gauda EB.

J Child Neurol. 2015 Jan;30(1):100-6. doi: 10.1177/0883073813517509. Epub 2014 Mar 28.


SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs.

Tisdale S, Lotti F, Saieva L, Van Meerbeke JP, Crawford TO, Sumner CJ, Mentis GZ, Pellizzoni L.

Cell Rep. 2013 Dec 12;5(5):1187-95. doi: 10.1016/j.celrep.2013.11.012.


Cerebral abnormalities in adults with ataxia-telangiectasia.

Lin DD, Barker PB, Lederman HM, Crawford TO.

AJNR Am J Neuroradiol. 2014 Jan;35(1):119-23. doi: 10.3174/ajnr.A3646. Epub 2013 Jul 25.


Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia.

Shaikh AG, Marti S, Tarnutzer AA, Palla A, Crawford TO, Zee DS, Straumann D.

J Neurol. 2013 Nov;260(11):2728-35. doi: 10.1007/s00415-013-7046-4. Epub 2013 Jul 25.


Disorders of Upper Limb Movements in Ataxia-Telangiectasia.

Shaikh AG, Zee DS, Mandir AS, Lederman HM, Crawford TO.

PLoS One. 2013 Jun 27;8(6):e67042. doi: 10.1371/journal.pone.0067042. Print 2013.


SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.

Kissel JT, Elsheikh B, King WM, Freimer M, Scott CB, Kolb SJ, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators Network.

Muscle Nerve. 2014 Feb;49(2):187-92.


SMA-MAP: a plasma protein panel for spinal muscular atrophy.

Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C; Biomarkers for Spinal Muscular Atrophy Study Group, Chung WK, Kaufmann P, Darras BT, Finkel RS, Sproule DM, Martens WB, McDermott MP, De Vivo DC; Pediatric Neuromuscular Clinical Research Network, Walker MG, Chen KS.

PLoS One. 2013;8(4):e60113. doi: 10.1371/journal.pone.0060113. Epub 2013 Apr 2.


Pulmonary function in children and young adults with ataxia telangiectasia.

McGrath-Morrow SA, Lederman HM, Aherrera AD, Lefton-Greif MA, Crawford TO, Ryan T, Wright J, Collaco JM.

Pediatr Pulmonol. 2014 Jan;49(1):84-90. doi: 10.1002/ppul.22760. Epub 2013 Feb 8.


A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF Jr, Jabs EW, Hunter DG, Grant PE, Engle EC.

Brain. 2013 Feb;136(Pt 2):522-35. doi: 10.1093/brain/aws345. Epub 2013 Jan 31.


Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study.

Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P, Li X, Guo Y, Li RH, Trachtenberg F, Forrest SJ, Kobayashi DT, Chen KS, Joyce CL, Plasterer T; Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group.

PLoS One. 2012;7(4):e35462. doi: 10.1371/journal.pone.0035462. Epub 2012 Apr 27.

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