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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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.

Volltext

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

Volltext

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

Volltext

GLUT‐1 deficiency without epilepsy—an exceptional case von Overweg‐Plandsoen, W. C. G., Groener, J. E. M., Wang, D., Onkenhout, W., Brouwer, O. F., Bakker, H. D., De Vivo, D. C.

Volltext

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

Volltext

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

Volltext

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.

Volltext

GLUT1-deficiency : Barbiturates potentiate haploinsufficiency in vitro von KLEPPER, J, FISCHBARG, J, VERA, J. C, DONG WANG, DE VIVO, D. C

Volltext