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Results:
1-21
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Results: 21
Authors:
Hinton, VJ
De Vivo, DC
Nereo, NE
Goldstein, E
Stern, Y
Citation: Vj. Hinton et al., Selective deficits in verbal working memory associated with a known genetic etiology: The neuropsychological profile of Duchenne muscular dystrophy, J INT NEURO, 7(1), 2001, pp. 45-54
Authors:
Brockmann, K
Wang, D
Korenke, CG
von Moers, A
Ho, YY
Pascual, JM
Kuang, K
Yang, H
Ma, L
Kranz-Eble, P
Fischbarg, J
Hanefeld, F
De Vivo, DC
Citation: K. Brockmann et al., Autosomal dominant Glut-1 deficiency syndrome and familial epilepsy, ANN NEUROL, 50(4), 2001, pp. 476-485
Authors:
Nordli, DR
Kuroda, MM
Carroll, J
Koenigsberger, DY
Hirsch, LJ
Bruner, HJ
Seidel, WT
De Vivo, DC
Citation: Dr. Nordli et al., Experience with the ketogenic diet in infants, PEDIATRICS, 108(1), 2001, pp. 129-133
Authors:
Ho, YY
Yang, H
Klepper, J
Fischbarg, J
Wang, D
De Vivo, DC
Citation: Yy. Ho et al., Glucose transporter type 1 deficiency syndrome (Glut1DS): Methylxanthines potentiate GLUT1 haploinsufficiency in vitro, PEDIAT RES, 50(2), 2001, pp. 254-260
Authors:
Musumeci, O
Naini, A
Slonim, AE
Skavin, N
Hadjigeorgiou, GL
Krawiecki, N
Weissman, BM
Tsao, CY
Mendell, JR
Shanske, S
De Vivo, DC
Hirano, M
DiMauro, S
Citation: O. Musumeci et al., Familial cerebellar ataxia with muscle coenzyme Q10 deficiency, NEUROLOGY, 56(7), 2001, pp. 849-855
Authors:
Nordli, DR
De Vivo, DC
Citation: Dr. Nordli et Dc. De Vivo, The ketogenic diet, PEDIATRIC EPILEPSY: DIAGNOSIS AND THERAPY, SECOND EDITION, 2001, pp. 549-554
Authors:
Wang, D
Kranz-Eble, P
De Vivo, DC
Citation: D. Wang et al., Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome (vol 16, pg 224, 2000), HUM MUTAT, 16(6), 2000, pp. 527-527
Authors:
Wang, D
Kranz-Eble, P
De Vivo, DC
Citation: D. Wang et al., Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome, HUM MUTAT, 16(3), 2000, pp. 224-231
Authors:
Sue, CM
Karadimas, C
Checcarelli, N
Tanji, K
Papadopoulou, LC
Pallotti, F
Guo, FL
Shanske, S
Hirano, M
De Vivo, DC
Van Coster, R
Kaplan, P
Bonilla, E
DiMauro, S
Citation: Cm. Sue et al., Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2, ANN NEUROL, 47(5), 2000, pp. 589-595
Authors:
Klepper, J
Santer, R
Baethmann, M
De Vivo, DC
Voit, T
Citation: J. Klepper et al., Congenital defects of glucose transport, MONATS KIND, 148(1), 2000, pp. 2-11
Authors:
Papadopoulou, LC
Sue, CM
Davidson, MM
Tanji, K
Nishino, I
Sadlock, JE
Krishna, S
Walker, W
Selby, J
Glerum, DM
Van Coster, R
Lyon, G
Scalais, E
Lebel, R
Kaplan, P
Shanske, S
De Vivo, DC
Bonilla, E
Hirano, M
DiMauro, S
Schon, EA
Citation: Lc. Papadopoulou et al., Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene, NAT GENET, 23(3), 1999, pp. 333-337
Authors:
Klepper, J
Garcia-Alvarez, M
O'Driscoll, KR
Parides, MK
Wang, D
Ho, YY
De Vivo, DC
Citation: J. Klepper et al., Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome, J CL LAB AN, 13(3), 1999, pp. 116-121
Authors:
De Vivo, DC
Citation: Dc. De Vivo, Diagnostic approach to metabolic encephalopathies, J CHILD NEU, 14, 1999, pp. S1-S3
Authors:
DiMauro, S
Bonilla, E
De Vivo, DC
Citation: S. Dimauro et al., Does the patient have a mitochondrial encephalomyopathy?, J CHILD NEU, 14, 1999, pp. S23-S35
Authors:
De Vivo, DC
Citation: Dc. De Vivo, Solving the COX puzzle, ANN NEUROL, 46(2), 1999, pp. 142-143
Authors:
Klepper, J
Wang, D
Fischbarg, J
Vera, JC
Jarjour, IT
O'Driscoll, KR
De Vivo, DC
Citation: J. Klepper et al., Defective glucose transport across brain tissue barriers: A newly recognized neurological syndrome, NEUROCHEM R, 24(4), 1999, pp. 587-594
Authors:
Sue, CM
Hirano, M
DiMauro, S
De Vivo, DC
Citation: Cm. Sue et al., Neonatal presentations of mitochondrial metabolic disorders, SEM PERINAT, 23(2), 1999, pp. 113-124
Authors:
Klepper, J
Fischbarg, J
Vera, JC
Wang, D
De Vivo, DC
Citation: J. Klepper et al., GLUT1-deficiency: Barbiturates potentiate haploinsufficiency in vitro, PEDIAT RES, 46(6), 1999, pp. 677-683
Authors:
Sue, CM
Bruno, C
Andreu, AL
Cargan, A
Mendell, JR
Tsao, CY
Luquette, M
Paolicchi, J
Shanske, S
DiMauro, S
De Vivo, DC
Citation: Cm. Sue et al., Infantile encephalopathy associated with the MELAS A3243G mutation, J PEDIAT, 134(6), 1999, pp. 696-700
Authors:
Manfred, G
Gupta, N
Vazquez-Memije, ME
Sadlock, JE
Spinazzola, A
De Vivo, DC
Schon, EA
Citation: G. Manfred et al., Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene, J BIOL CHEM, 274(14), 1999, pp. 9386-9391
Authors:
Santorelli, FM
Tanji, K
Shanske, S
Krishna, S
Schmidt, RE
Greenwood, RS
DiMauro, S
De Vivo, DC
Citation: Fm. Santorelli et al., The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past, ANN NEUROL, 44(6), 1998, pp. 962-964
Risultati:
1-21
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