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Results: 1-9 |
Results: 9
MATERNALLY INHERITED ENCEPHALOPATHY ASSOCIATED WITH A SINGLE-BASE INSERTION IN THE MITOCHONDRIAL TRNA(TRP) GENE
Authors: SANTORELLI FM TANJI K SANO M SHANSKE S ELSHAHAWI M KRANZEBLE P DIMAURO S DEVIVO DC
Citation: Fm. Santorelli et al., MATERNALLY INHERITED ENCEPHALOPATHY ASSOCIATED WITH A SINGLE-BASE INSERTION IN THE MITOCHONDRIAL TRNA(TRP) GENE, Annals of neurology, 42(2), 1997, pp. 256-260
COMPARATIVE BIOCHEMICAL-STUDIES IN FIBROBLASTS FROM PATIENTS WITH DIFFERENT FORMS OF LEIGH-SYNDROME
Authors: VAZQUEZMEMIJE ME SHANSKE S SANTORELLI FM KRANZEBLE P DAVIDSON E DEVIVO DC DIMAURO S
Citation: Me. Vazquezmemije et al., COMPARATIVE BIOCHEMICAL-STUDIES IN FIBROBLASTS FROM PATIENTS WITH DIFFERENT FORMS OF LEIGH-SYNDROME, Journal of inherited metabolic disease, 19(1), 1996, pp. 43-50
CLINICAL HETEROGENEITY ASSOCIATED WITH THE MITOCHONDRIAL-DNA T8993C POINT MUTATION
Authors: SANTORELLI FM MAK SC VAZQUEZMEMIJE ME SHANSKE S KRANZEBLE P JAIN KD BLUESTONE DL DEVIVO DC DIMAURO S
Citation: Fm. Santorelli et al., CLINICAL HETEROGENEITY ASSOCIATED WITH THE MITOCHONDRIAL-DNA T8993C POINT MUTATION, Pediatric research, 39(5), 1996, pp. 914-917
MOLECULAR-GENETICS OF HUMAN PYRUVATE-CARBOXYLASE DEFICIENCY
Authors: ODRISCOLL KR ALVAREZ MBG PONS R KRANZEBLE P DEVIVO DC
Citation: Kr. Odriscoll et al., MOLECULAR-GENETICS OF HUMAN PYRUVATE-CARBOXYLASE DEFICIENCY, Annals of neurology, 38(3), 1995, pp. 545-545
CLINICAL HETEROGENEITY OF THE NT-8993 POINT MUTATIONS IN THE MITOCHONDRIAL-DNA
Authors: SANTORELLI FM MAK B THYAGARAJAN D SHANSKE S KRANZEBLE P DEVIVO DC DIMAURO S
Citation: Fm. Santorelli et al., CLINICAL HETEROGENEITY OF THE NT-8993 POINT MUTATIONS IN THE MITOCHONDRIAL-DNA, Neurology, 45(4), 1995, pp. 401-401
COMPARATIVE BIOCHEMICAL-STUDIES IN CELLS FROM PATIENTS WITH MUTATIONSIN THE ATPASE 6 GENE OF MITOCHONDRIAL-DNA
Authors: VAZQUERMEMIJE ME SHANSKE S SANTORELLI FM KRANZEBLE P DEVIVO DC DIMAURO S
Citation: Me. Vazquermemije et al., COMPARATIVE BIOCHEMICAL-STUDIES IN CELLS FROM PATIENTS WITH MUTATIONSIN THE ATPASE 6 GENE OF MITOCHONDRIAL-DNA, Neurology, 45(4), 1995, pp. 402-402
ABNORMAL CALCIUM HOMEOSTASIS AND MITOCHONDRIAL POLARIZATION IN A HUMAN ENCEPHALOMYOPATHY
Authors: MOUDY AM HANDRAN SD GOLDBERG MP RUFFIN N KARL I KRANZEBLE P DEVIVO DC ROTHMAN SM
Citation: Am. Moudy et al., ABNORMAL CALCIUM HOMEOSTASIS AND MITOCHONDRIAL POLARIZATION IN A HUMAN ENCEPHALOMYOPATHY, Proceedings of the National Academy of Sciences of the United Statesof America, 92(3), 1995, pp. 729-733
PYRUVATE-DEHYDROGENASE DEFICIENCY - MOLECULAR MECHANISMS CONTRIBUTINGTO PHENOTYPIC HETEROGENEITY
Authors: FUJII T GARCIAALVAREZ M SHEU KF KRANZEBLE P DEVIVO DC
Citation: T. Fujii et al., PYRUVATE-DEHYDROGENASE DEFICIENCY - MOLECULAR MECHANISMS CONTRIBUTINGTO PHENOTYPIC HETEROGENEITY, Annals of neurology, 36(3), 1994, pp. 491-491
ATP SYNTHESIS IN FIBROBLASTS FROM PATIENTS WITH MATERNALLY INHERITED LEIGH-SYNDROME
Authors: VAZQUEZMEMIJE ME SANTORELLI FM SHANSKE S KRANZEBLE P DEVIVO DC DIMAURO S
Citation: Me. Vazquezmemije et al., ATP SYNTHESIS IN FIBROBLASTS FROM PATIENTS WITH MATERNALLY INHERITED LEIGH-SYNDROME, Neurology, 44(4), 1994, pp. 10000208-10000208
Risultati: 1-9 |