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Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.

Sze SK, Lederman HM, Crawford TO, Wangler MF, Lewis AM, Kastan MB, Dibra HK, Taylor AMR, Wechsler DS.

J Pediatr Hematol Oncol. 2019 Nov 14. doi: 10.1097/MPH.0000000000001672. [Epub ahead of print]


Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.

De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W; NURTURE Study Group.

Neuromuscul Disord. 2019 Nov;29(11):842-856. doi: 10.1016/j.nmd.2019.09.007. Epub 2019 Sep 12.


Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.

Ramos DM, d'Ydewalle C, Gabbeta V, Dakka A, Klein SK, Norris DA, Matson J, Taylor SJ, Zaworski PG, Prior TW, Snyder PJ, Valdivia D, Hatem CL, Waters I, Gupte N, Swoboda KJ, Rigo F, Bennett CF, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ.

J Clin Invest. 2019 Nov 1;129(11):4817-4831. doi: 10.1172/JCI124120.


Chromosome instability syndromes.

Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, Smogorzewska A, Pietrucha B, Weemaes C, Stewart GS.

Nat Rev Dis Primers. 2019 Sep 19;5(1):64. doi: 10.1038/s41572-019-0113-0. Review.


Neurofilament as a potential biomarker for spinal muscular atrophy.

Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W, Sumner CJ.

Ann Clin Transl Neurol. 2019 Apr 17;6(5):932-944. doi: 10.1002/acn3.779. eCollection 2019 May.


Description of Restrictively Defined Acute Flaccid Myelitis-Reply.

Elrick MJ, Crawford TO, Pardo CA.

JAMA Pediatr. 2019 Jul 1;173(7):702-703. doi: 10.1001/jamapediatrics.2019.1272. No abstract available.


Clinical Subpopulations in a Sample of North American Children Diagnosed With Acute Flaccid Myelitis, 2012-2016.

Elrick MJ, Gordon-Lipkin E, Crawford TO, Van Haren K, Messacar K, Thornton N, Dee E, Voskertchian A, Nance JR, Muñoz LS, Gorman MP, Benson LA, Thomas DL, Pardo CA, Milstone AM, Duggal P.

JAMA Pediatr. 2019 Feb 1;173(2):134-139. doi: 10.1001/jamapediatrics.2018.4890.


Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain.

Sumner CJ, Crawford TO.

J Clin Invest. 2018 Aug 1;128(8):3219-3227. doi: 10.1172/JCI121658. Epub 2018 Jul 9. Review.


Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening.

Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J.

J Neuromuscul Dis. 2018;5(2):145-158. doi: 10.3233/JND-180304.


An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members.

Belter L, Cook SF, Crawford TO, Jarecki J, Jones CC, Kissel JT, Schroth M, Hobby K.

J Neuromuscul Dis. 2018;5(2):167-176. doi: 10.3233/JND-170292.


Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group.

Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.


Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group.

Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. Review.


Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A.

McCray BA, Hurst W, Crawford TO, Lloyd TE.

Muscle Nerve. 2018 May;57(5):E126-E128. doi: 10.1002/mus.26047. Epub 2018 Jan 26. No abstract available.


Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.

Jerath NU, Mankodi A, Crawford TO, Grunseich C, Baloui H, Nnamdi-Emeratom C, Schindler AB, Heiman-Patterson T, Chrast R, Shy ME.

Muscle Nerve. 2018 May;57(5):749-755. doi: 10.1002/mus.25981. Epub 2017 Oct 24.


Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Krosschell KJ, Kissel JT, Townsend EL, Simeone SD, Zhang RZ, Reyna SP, Crawford TO, Schroth MK, Acsadi G, Kishnani PS, Von Kleist-Retzow JC, Hero B, D'Anjou G, Smith EC, Elsheikh B, Simard LR, Prior TW, Scott CB, Lasalle B, Sakonju A, Wirth B, Swoboda KJ; Project Cure SMA Investigator's Network.

Muscle Nerve. 2018 Feb;57(2):193-199. doi: 10.1002/mus.25776. Epub 2017 Sep 18.


Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.

Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER.

Neuromuscul Disord. 2017 May;27(5):439-446. doi: 10.1016/j.nmd.2017.02.002. Epub 2017 Feb 6.


Ataxia telangiectasia: a review.

Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM.

Orphanet J Rare Dis. 2016 Nov 25;11(1):159. Review.


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, Waberski MB, Crawford TO, Hamosh A, Stafstrom CE.

Ann Neurol. 2016 Oct;80(4):633-7. doi: 10.1002/ana.24744. Epub 2016 Aug 24.


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 Oct;58(10):1069-75. doi: 10.1111/dmcn.13156. Epub 2016 May 23.


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.


Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.

Crawford TO, Paushkin SV, Kobayashi DT, Forrest SJ, Joyce CL, Finkel RS, Kaufmann P, Swoboda KJ, Tiziano D, Lomastro R, Li RH, Trachtenberg FL, Plasterer T, Chen KS; Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group.

PLoS One. 2012;7(4):e33572. doi: 10.1371/journal.pone.0033572. Epub 2012 Apr 27.


Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia.

Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S, Easley RB.

Paediatr Anaesth. 2012 Mar;22(3):256-62. doi: 10.1111/j.1460-9592.2011.03739.x. Epub 2011 Nov 21.


Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology.

Dzieciatkowska M, Qi G, You J, Bemis KG, Sahm H, Lederman HM, Crawford TO, Gelbert LM, Rothblum-Oviatt C, Wang M.

Int J Proteomics. 2011;2011:578903. doi: 10.1155/2011/578903. Epub 2011 Jun 23.


Functional consequences and structural interpretation of mutations of human choline acetyltransferase.

Shen XM, Crawford TO, Brengman J, Acsadi G, Iannaconne S, Karaca E, Khoury C, Mah JK, Edvardson S, Bajzer Z, Rodgers D, Engel AG.

Hum Mutat. 2011 Nov;32(11):1259-67. doi: 10.1002/humu.21560. Epub 2011 Sep 23.


SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.

Kissel JT, Scott CB, Reyna SP, Crawford TO, Simard LR, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson S, Maczulski JA, Bromberg MB, Chan GM, Swoboda KJ; Project Cure Spinal Muscular Atrophy Investigators' Network.

PLoS One. 2011;6(7):e21296. doi: 10.1371/journal.pone.0021296. Epub 2011 Jul 6.


Growing rods for scoliosis in spinal muscular atrophy: structural effects, complications, and hospital stays.

McElroy MJ, Shaner AC, Crawford TO, Thompson GH, Kadakia RV, Akbarnia BA, Skaggs DL, Emans JB, Sponseller PD.

Spine (Phila Pa 1976). 2011 Jul 15;36(16):1305-11. doi: 10.1097/BRS.0b013e3182194937.


Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia.

Lefton-Greif MA, Crawford TO, McGrath-Morrow S, Carson KA, Lederman HM.

Orphanet J Rare Dis. 2011 May 15;6:23. doi: 10.1186/1750-1172-6-23.


The critically ill patient with ataxia-telangiectasia: a case series.

Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S, Easley RB.

Pediatr Crit Care Med. 2012 Mar;13(2):e84-90. doi: 10.1097/PCC.0b013e318219281c.


Ataxia telangiectasia: a "disease model" to understand the cerebellar control of vestibular reflexes.

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

J Neurophysiol. 2011 Jun;105(6):3034-41. doi: 10.1152/jn.00721.2010. Epub 2011 Apr 6.


Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders.

Finanger Hedderick EL, Simmers JL, Soleimani A, Andres-Mateos E, Marx R, Files DC, King L, Crawford TO, Corse AM, Cohn RD.

Neurology. 2011 Mar 15;76(11):960-7. doi: 10.1212/WNL.0b013e31821043c8.


Prevalence and distribution of regional scar in dysfunctional myocardial segments in Duchenne muscular dystrophy.

Bilchick KC, Salerno M, Plitt D, Dori Y, Crawford TO, Drachman D, Thompson WR.

J Cardiovasc Magn Reson. 2011 Mar 11;13:20. doi: 10.1186/1532-429X-13-20.


Electroconvulsive therapy for pediatric malignant catatonia with cerebellar dysgenesis.

Wachtel LE, Crawford TO, Dhossche DM, Reti IM.

Pediatr Neurol. 2010 Dec;43(6):427-30. doi: 10.1016/j.pediatrneurol.2010.06.009.


SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

Swoboda KJ, Scott CB, Crawford TO, Simard LR, Reyna SP, Krosschell KJ, Acsadi G, Elsheik B, Schroth MK, D'Anjou G, LaSalle B, Prior TW, Sorenson SL, Maczulski JA, Bromberg MB, Chan GM, Kissel JT; Project Cure Spinal Muscular Atrophy Investigators Network.

PLoS One. 2010 Aug 19;5(8):e12140. doi: 10.1371/journal.pone.0012140.

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