The changing natural history of spinal muscular atrophy type 1
Oskoui, M, Levy, G, Garland, C J, Gray, J M, O'Hagen, J, De Vivo, D C, Kaufmann, P
Published in Neurology (13.11.2007)
Published in Neurology (13.11.2007)
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Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
Kaufmann, P, Engelstad, K, Wei, Y, Jhung, S, Sano, M C, Shungu, D C, Millar, W S, Hong, X, Gooch, C L, Mao, X, Pascual, J M, Hirano, M, Stacpoole, P W, DiMauro, S, De Vivo, D C
Published in Neurology (14.02.2006)
Published in Neurology (14.02.2006)
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Glut1 deficiency and alternating hemiplegia of childhood
Rotstein, M, Doran, J, Yang, H, Ullner, P M, Engelstad, K, De Vivo, D C
Published in Neurology (08.12.2009)
Published in Neurology (08.12.2009)
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Cerebral lactic acidosis correlates with neurological impairment in MELAS
Kaufmann, P, Shungu, D C, Sano, M C, Jhung, S, Engelstad, K, Mitsis, E, Mao, X, Shanske, S, Hirano, M, DiMauro, S, De Vivo, D C
Published in Neurology (27.04.2004)
Published in Neurology (27.04.2004)
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Cerebellar ataxia and coenzyme Q10 deficiency
Lamperti, C, Naini, A, Hirano, M, De Vivo, D C, Bertini, E, Servidei, S, Valeriani, M, Lynch, D, Banwell, B, Berg, M, Dubrovsky, T, Chiriboga, C, Angelini, C, Pegoraro, E, DiMauro, S
Published in Neurology (08.04.2003)
Published in Neurology (08.04.2003)
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Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis
Pons, R, Ford, B, Chiriboga, C A, Clayton, P T, Hinton, V, Hyland, K, Sharma, R, De Vivo, D C
Published in Neurology (13.04.2004)
Published in Neurology (13.04.2004)
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Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
Musumeci, O, Naini, A, Slonim, A E, Skavin, N, Hadjigeorgiou, G L, Krawiecki, N, Weissman, B M, Tsao, C Y, Mendell, J R, Shanske, S, De Vivo, D C, Hirano, M, DiMauro, S
Published in Neurology (10.04.2001)
Published in Neurology (10.04.2001)
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Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
Kaufmann, P, Engelstad, K, Wei, Y, Kulikova, R, Oskoui, M, Sproule, D M, Battista, V, Koenigsberger, D Y, Pascual, J M, Shanske, S, Sano, M, Mao, X, Hirano, M, Shungu, D C, Dimauro, S, De Vivo, D C
Published in Neurology (29.11.2011)
Published in Neurology (29.11.2011)
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Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy
Montes, J, McDermott, M P, Martens, W B, Dunaway, S, Glanzman, A M, Riley, S, Quigley, J, Montgomery, M J, Sproule, D, Tawil, R, Chung, W K, Darras, B T, De Vivo, D C, Kaufmann, P, Finkel, R S
Published in Neurology (09.03.2010)
Published in Neurology (09.03.2010)
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Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis
Oskoui, M, Jacobson, L, Chung, W K, Haddad, J, Vincent, A, Kaufmann, P, De Vivo, D C
Published in Neurology (09.12.2008)
Published in Neurology (09.12.2008)
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Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
Sue, C. M., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L. C., Pallotti, F., Guo, F. L., Shanske, S., Hirano, M., De Vivo, D. C., Van Coster, R., Kaplan, P., Bonilla, E., DiMauro, S.
Published in Annals of neurology (01.05.2000)
Published in Annals of neurology (01.05.2000)
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Measurement of ATP production in mitochondrial disorders
Shepherd, R. K., Checcarelli, N., Naini, A., De Vivo, D. C., DiMauro, S., Sue, C. M.
Published in Journal of inherited metabolic disease (01.02.2006)
Published in Journal of inherited metabolic disease (01.02.2006)
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Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation
Shen, X-M, Ohno, K, Fukudome, T, Tsujino, A, Brengman, J M, De Vivo, D C, Packer, R J, Engel, A G
Published in Neurology (24.12.2002)
Published in Neurology (24.12.2002)
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GLUT‐1 deficiency without epilepsy—an exceptional case
Overweg‐Plandsoen, W. C. G., Groener, J. E. M., Wang, D., Onkenhout, W., Brouwer, O. F., Bakker, H. D., De Vivo, D. C.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy
HINTON, VERONICA J., DE VIVO, DARRYL C., NEREO, NANCY E., GOLDSTEIN, EDWARD, STERN, YAAKOV
Published in Journal of the International Neuropsychological Society (01.01.2001)
Published in Journal of the International Neuropsychological Society (01.01.2001)
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l‐Carnitine Supplementation in Childhood Epilepsy: Current Perspectives
Vivo, Darryl C., Bohan, Timothy P., Coulter, David L., Dreifuss, Fritz E., Greenwood, Robert S., Nordli, Douglas R., Shields, W. Donald, Stafstrom, Carl E., Tein, Ingrid
Published in Epilepsia (Copenhagen) (01.11.1998)
Published in Epilepsia (Copenhagen) (01.11.1998)
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Poor Facial Affect Recognition among Boys with Duchenne Muscular Dystrophy
Hinton, V. J, Fee, R. J, De Vivo, D. C, Goldstein, E
Published in Journal of autism and developmental disorders (01.11.2007)
Published in Journal of autism and developmental disorders (01.11.2007)
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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2 , a COX assembly gene
Schon, Eric A, Papadopoulou, Lefkothea C, Sue, Carolyn M, Davidson, Mercy M, Tanji, Kurenai, Nishino, Ichizo, Sadlock, James E, Krishna, Sindu, Walker, Winsome, Selby, Jeanette, Glerum, D. Moira, Coster, Rudy Van, Lyon, Gilles, Scalais, Emmanuel, Lebel, Roger, Kaplan, Paige, Shanske, Sara, De Vivo, Darryl C, Bonilla, Eduardo, Hirano, Michio, DiMauro, Salvatore
Published in Nature genetics (01.11.1999)
Published in Nature genetics (01.11.1999)
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Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome
Coman, David J, Sinclair, KG, Burke, CJ, Appleton, DB, Pelekanos, JT, O'Neil, CM, Wallace, GB, Bowling, FG, Wang, D, De Vivo, DC, McGill, JJ
Published in Journal of paediatrics and child health (01.05.2006)
Published in Journal of paediatrics and child health (01.05.2006)
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Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy
Brockmann, Knut, Wang, Dong, Korenke, Christoph G., Von Moers, Arpad, Ho, Yuan-Yuan, Pascual, Juan M., Kuang, Kunyan, Yang, Hong, Ma, Li, Kranz-Eble, Pamela, Fischbarg, Jorge, Hanefeld, Folker, De Vivo, Darryl C.
Published in Annals of neurology (01.10.2001)
Published in Annals of neurology (01.10.2001)
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