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Results: 1 to 20 of 106

1.

Susceptibility-Weighted Imaging for Calcification in Cockayne Syndrome.

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

J Pediatr. 2014 May 22. pii: S0022-3476(14)00383-7. doi: 10.1016/j.jpeds.2014.04.030. [Epub ahead of print] No abstract available.

PMID:
24857520
[PubMed - as supplied by publisher]
2.

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.

PMID:
24747834
[PubMed - in process]
3.

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. 2014 Mar 28. [Epub ahead of print]

PMID:
24682289
[PubMed - as supplied by publisher]
4.

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.

PMID:
24332368
[PubMed - in process]
Free Article
5.

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.

PMID:
23886747
[PubMed - in process]
6.

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.

PMID:
23884713
[PubMed - indexed for MEDLINE]
7.

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. Print 2013.

PMID:
23826191
[PubMed - as supplied by publisher]
Free PMC Article
8.

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.

PMID:
23681940
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
23565191
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
23401357
[PubMed - in process]
11.

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.

PMID:
23378218
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
22558154
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
22558076
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
22098343
[PubMed - indexed for MEDLINE]
15.

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.

PMID:
22084690
[PubMed]
Free PMC Article
16.

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.

PMID:
21786365
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
21754985
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
21730818
[PubMed - indexed for MEDLINE]
19.

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.

PMID:
21569628
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

PMID:
21478798
[PubMed - indexed for MEDLINE]

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