The changing natural history of spinal muscular atrophy type 1 von OSKOUI, M, LEVY, G, GARLAND, C. J, GRAY, J. M, O'HAGEN, J, DE VIVO, D. C, KAUFMANN, P

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Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype von KAUFMANN, P, ENGELSTAD, K, SANO, M, MAO, X, HIRANO, M, SHUNGU, D. C, DIMAURO, S, DE VIVO, D. C, WEI, Y, KULIKOVA, R, OSKOUI, M, SPROULE, D. M, BATTISTA, V, KOENIGSBERGER, D. Y, PASCUAL, J. M, SHANSKE, S

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Dichloroacetate causes toxic neuropathy in MELAS : A randomized, controlled clinical trial von KAUFMANN, P, ENGELSTAD, K, PASCUAL, J. M, HIRANO, M, STACPOOLE, P. W, DIMAURO, S, DE VIVO, D. C, WEI, Y, JHUNG, S, SANO, M. C, SHUNGU, D. C, MILLAR, W. S, HONG, X, GOOCH, C. L, MAO, X

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Cerebral lactic acidosis correlates with neurological impairment in MELAS von KAUFMANN, P, SHUNGU, D. C, DE VIVO, D. C, SANO, M. C, JHUNG, S, ENGELSTAD, K, MITSIS, E, MAO, X, SHANSKE, S, HIRANO, M, DIMAURO, S

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Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy von MONTES, J, MCDERMOTT, M. P, CHUNG, W. K, DARRAS, B. T, DE VIVO, D. C, KAUFMANN, P, FINKEL, R. S, MARTENS, W. B, DUNAWAY, S, GLANZMAN, A. M, RILEY, S, QUIGLEY, J, MONTGOMERY, M. J, SPROULE, D, TAWIL, R

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GLUT1 DEFICIENCY AND ALTERNATING HEMIPLEGIA OF CHILDHOOD von ROTSTEIN, M, DORAN, J, YANG, H, ULLNER, P. M, ENGELSTAD, K, DE VIVO, D. C

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Cerebellar ataxia and coenzyme Q10 deficiency von LAMPERTI, C, NAINI, A, DUBROVSKY, T, CHIRIBOGA, C, ANGELINI, C, PEGORARO, E, DIMAURO, S, HIRANO, M, DE VIVO, D. C, BERTINI, E, SERVIDEI, S, VALERIANI, M, LYNCH, D, BANWELL, B, BERG, M

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Aromatic L-amino acid decarboxylase deficiency: Clinical features, treatment, and prognosis von PONS, R, FORD, B, CHIRIBOGA, C. A, CLAYTON, P. T, HINTON, V, HYLAND, K, SHARMA, R, DE VIVO, D. C

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Zinner syndrome diagnosed by magnetic resonance imaging and computed tomography: role of imaging to identify and evaluate the uncommon variation in development of the male genital... von Fiaschetti, V., MD, PhD, Greco, L., MD, Giuricin, V., MD, De Vivo, D., MD, Di Caprera, E., MD, Di Trapano, R., MD, Castellani, F., MD, Floris, R., MD

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Familial cerebellar ataxia with muscle coenzyme Q10 deficiency von MUSUMECI, O, NAINI, A, DE VIVO, D. C, HIRANO, M, DIMAURO, S, SLONIM, A. E, SKAVIN, N, HADJIGEORGIOU, G. L, KRAWIECKI, N, WEISSMAN, B. M, TSAO, C.-Y, MENDELL, J. R, SHANSKE, S

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Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis von Oskoui, M, Jacobson, L, Chung, W K, Haddad, J, Vincent, A, Kaufmann, P, De Vivo, D C

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2 , a COX assembly gene von 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

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l‐Carnitine Supplementation in Childhood Epilepsy: Current Perspectives von 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

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Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2 von 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.

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Poor Facial Affect Recognition among Boys with Duchenne Muscular Dystrophy von Hinton, V. J, Fee, R. J, De Vivo, D. C, Goldstein, E

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Molecular findings in symptomatic and pre-symptomatic Alexander disease patients von GOROSPE, J. R, NAIDU, S, DE VIVO, D, VAN DER KNAAP, M. S, MESSING, A, BRENNER, M, HOFFMAN, E. P, JOHNSON, A. B, PURI, V, RAYMOND, G. V, JENKINS, S. D, PEDERSEN, R. C, LEWIS, D, KNOWLES, P, FERNANDEZ, R

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Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy von HINTON, VERONICA J., DE VIVO, DARRYL C., NEREO, NANCY E., GOLDSTEIN, EDWARD, STERN, YAAKOV

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Measurement of ATP production in mitochondrial disorders von Shepherd, R. K., Checcarelli, N., Naini, A., De Vivo, D. C., DiMauro, S., Sue, C. M.

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Congenital myasthenic syndrome caused by low-expressor fast-channel AChR δ subunit mutation von SHEN, X.-M, OHNO, K, FUKUDOME, T, TSUJINO, A, BRENGMAN, J. M, DE VIVO, D. C, PACKER, R. J, ENGEL, A. G

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Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy von 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.

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