Slow target-directed eye movements in ataxia-telangiectasiaLEWIS, Richard F; CRAWFORD, Thomas O.Investigative ophthalmology & visual science. 2002, Vol 43, Num 3, pp 686-691, issn 0146-0404Article

Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial diseaseLIN, Doris D. M; CRAWFORD, Thomas O; BARKER, Peter B et al.American journal of neuroradiology. 2003, Vol 24, Num 1, pp 33-41, issn 0195-6108, 9 p.Article

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA miceWORKMAN, Eileen; SAIEVA, Luciano; CARREL, Tessa L et al.Human molecular genetics (Print). 2009, Vol 18, Num 12, pp 2215-2229, issn 0964-6906, 15 p.Article

Ocular manifestations of ataxia-telangiectasiaFARR, Arman K; SHALEV, Benjamin; CRAWFORD, Thomas O et al.American journal of ophthalmology. 2002, Vol 134, Num 6, pp 891-896, issn 0002-9394, 6 p.Article

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effectGAVRILINA, Tatiana O; MCGOVERN, Vicki L; WORKMAN, Eileen et al.Human molecular genetics (Print). 2008, Vol 17, Num 8, pp 1063-1075, issn 0964-6906, 13 p.Article

Immunodeficiency and infections in Ataxia-TelangiectasiaNOWAK-WEGRZYN, Anna; CRAWFORD, Thomas O; WINKELSTEIN, Jerry A et al.The Journal of pediatrics. 2004, Vol 144, Num 4, pp 505-511, issn 0022-3476, 7 p.Article

Evaluation and Management of Pulmonary Disease in Ataxia-TelangiectasiaMCGRATH-MORROW, Sharon A; GOWER, W. Adam; AUWAERTER, Paul G et al.Pediatric pulmonology. 2010, Vol 45, Num 9, pp 847-859, issn 8755-6863, 13 p.Article

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1JOHNSTON, Jennifer J; KELLEY, Richard I; CRAWFORD, Thomas O et al.American journal of human genetics. 2000, Vol 67, Num 4, pp 814-821, issn 0002-9297Article

Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relativesVOLKOW, Nora D; TOMASI, Dardo; WANG, Gene-Jack et al.Brain. 2014, Vol 137, pp 1753-1761, issn 0006-8950, 9 p., 6Article

Anti-myelin-associated glycoprotein antibodies alter neurofilament spacingLUNN, Michael P. T; CRAWFORD, Thomas O; HUGHES, Richard A. C et al.Brain. 2002, Vol 125, pp 904-911, issn 0006-8950, 4Article

Bilateral diaphragm paralysis following lung transplantation and cardiac surgery in a 17-year-oldMOGAYZEL, Peter J; COLOMBANI, Paul M; CRAWFORD, Thomas O et al.The Journal of heart and lung transplantation. 2002, Vol 21, Num 6, pp 710-712, issn 1053-2498Article

Growing Rods for Scoliosis in Spinal Muscular Atrophy: Structural Effects, Complications, and Hospital StaysMCELROY, Mark J; SHANER, Adam C; CRAWFORD, Thomas O et al.Spine (Philadelphia, PA. 1976). 2011, Vol 36, Num 16, pp 1305-1311, issn 0362-2436, 7 p.Article

Elevated Serum IL-8 Levels in Ataxia TelangiectasiaMCGRATH-MORROW, Sharon A; COLLACO, J. Michael; CRAWFORD, Thomas O et al.The Journal of pediatrics. 2010, Vol 156, Num 4, pp 682-684, issn 0022-3476, 3 p.Article

Recurrent pneumothoraces associated with nocturnal noninvasive ventilation in a patient with muscular dystrophyCHOO-KANG, Lee R; OGUNLESI, Folasade O; MCGRATH-MORROW, Sharon A et al.Pediatric pulmonology. 2002, Vol 34, Num 1, pp 73-78, issn 8755-6863Article

Quantitative proton MR spectroscopic imaging in acute disseminated encephalomyelitisBIZZI, Alberto; ULUG, Aziz M; CRAWFORD, Thomas O et al.American journal of neuroradiology. 2001, Vol 22, Num 6, pp 1125-1130, issn 0195-6108Article

A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3CHEW, Sheena; BALASUBRAMANIAN, Ravikumar; GERAGHTY, Michael et al.Brain. 2013, Vol 136, pp 522-535, issn 0006-8950, 14 p., 2Article

COMPOUND MUSCLE ACTION POTENTIAL AND MOTOR FUNCTION IN CHILDREN WITH SPINAL MUSCULAR ATROPHYLEWELT, Aga; KROSSCHELL, Kristin J; SCHROTH, Mary K et al.Muscle & nerve. 2010, Vol 42, Num 5, pp 703-708, issn 0148-639X, 6 p.Article

Electroconvulsive Therapy for Pediatric Malignant Catatonia With Cerebellar DysgenesisWACHTEL, Lee E; CRAWFORD, Thomas O; DHOSSCHE, Dirk M et al.Pediatric neurology. 2010, Vol 43, Num 6, pp 427-430, issn 0887-8994, 4 p.Article

Ataxia-telangiectasia : Mild neurological presentation despite null ATM mutation and severe cellular phenotypeALTERMAN, Neora; FATTAL-VALEVSKI, Aviva; MOYAL, Lilach et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 16, pp 1827-1834, issn 1552-4825, 8 p.Article

Robust quantification of the SMN gene copy number by real-time TaqMan PCRGOMEZ-CURET, Ilsa; ROBINSON, Karyn G; FUNANAGE, Vicky L et al.Neurogenetics (Oxford. Print). 2007, Vol 8, Num 4, pp 271-278, issn 1364-6745, 8 p.Article

Myelin-associated glycoprotein and complementary axonal ligands, gangliosides, mediate axon stability in the CNS and PNS : Neuropathology and behavioral deficits in single- and double-null miceBAOHAN PAN; FROMHOLT, Susan E; HESS, Ellen J et al.Experimental neurology (Print). 2005, Vol 195, Num 1, pp 208-217, issn 0014-4886, 10 p.Article