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Results: 1-11 |
Results: 11
MECHANISMS OF EXPRESSION OF PYRUVATE-DEHYDROGENASE DEFICIENCY CAUSED BY AN E1-ALPHA SUBUNIT MUTATION
Authors: MORTEN KJ CAKY M MATTHEWS PM
Citation: Kj. Morten et al., MECHANISMS OF EXPRESSION OF PYRUVATE-DEHYDROGENASE DEFICIENCY CAUSED BY AN E1-ALPHA SUBUNIT MUTATION, Neurology, 51(5), 1998, pp. 1324-1330
STABILIZATION OF THE PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT BY DICHLOROACETATE
Authors: MORTEN KJ CAKY M MATTHEWS PM
Citation: Kj. Morten et al., STABILIZATION OF THE PYRUVATE-DEHYDROGENASE E1-ALPHA SUBUNIT BY DICHLOROACETATE, Neurology, 51(5), 1998, pp. 1331-1335
FUNCTIONAL MTDNA REPLICATION DEFECT IN A FIBROBLAST LINE FROM A PATIENT WITH MTDNA DEPLETION
Authors: MORTEN KJ EMMERSON CF POULTON J
Citation: Kj. Morten et al., FUNCTIONAL MTDNA REPLICATION DEFECT IN A FIBROBLAST LINE FROM A PATIENT WITH MTDNA DEPLETION, Journal of inherited metabolic disease, 19(2), 1996, pp. 123-126
MULTIPLE INDEPENDENT OCCURRENCE OF THE 3243-MUTATION IN MITOCHONDRIALTRNA(LEUUUR) IN PATIENTS WITH THE MELAS PHENOTYPE
Authors: MORTEN KJ POULTON J SYKES B
Citation: Kj. Morten et al., MULTIPLE INDEPENDENT OCCURRENCE OF THE 3243-MUTATION IN MITOCHONDRIALTRNA(LEUUUR) IN PATIENTS WITH THE MELAS PHENOTYPE, Human molecular genetics, 4(9), 1995, pp. 1689-1691
DUPLICATIONS OF MITOCHONDRIAL-DNA IN KEARNS-SAYRE SYNDROME
Authors: POULTON J MORTEN KJ MARCHINGTON D WEBER K BROWN GK ROTIG A BINDOFF L
Citation: J. Poulton et al., DUPLICATIONS OF MITOCHONDRIAL-DNA IN KEARNS-SAYRE SYNDROME, Muscle & nerve, 1995, pp. 154-158
VARIATION IN MITOCHONDRIAL-DNA LEVELS IN MUSCLE FROM NORMAL CONTROLS - IS DEPLETION OF MTDNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHY A DISTINCT CLINICAL SYNDROME
Authors: POULTON J SEWRY C POTTER CG BOUGERON T CHRETIEN D WIJBURG FA MORTEN KJ BROWN G
Citation: J. Poulton et al., VARIATION IN MITOCHONDRIAL-DNA LEVELS IN MUSCLE FROM NORMAL CONTROLS - IS DEPLETION OF MTDNA IN PATIENTS WITH MITOCHONDRIAL MYOPATHY A DISTINCT CLINICAL SYNDROME, Journal of inherited metabolic disease, 18(1), 1995, pp. 4-20
MITOCHONDRIAL-DNA, DIABETES AND PANCREATIC PATHOLOGY IN KEARNS-SAYRE SYNDROME
Authors: POULTON J ORAHILLY S MORTEN KJ CLARK A
Citation: J. Poulton et al., MITOCHONDRIAL-DNA, DIABETES AND PANCREATIC PATHOLOGY IN KEARNS-SAYRE SYNDROME, Diabetologia, 38(7), 1995, pp. 868-871
ARE DUPLICATIONS OF MITOCHONDRIAL-DNA CHARACTERISTIC OF KEARNS-SAYRE SYNDROME
Authors: POULTON J MORTEN KJ WEBER K BROWN GK BINDOFF L
Citation: J. Poulton et al., ARE DUPLICATIONS OF MITOCHONDRIAL-DNA CHARACTERISTIC OF KEARNS-SAYRE SYNDROME, Human molecular genetics, 3(6), 1994, pp. 947-951
A NEW POINT MUTATION ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOMYOPATHY
Authors: MORTEN KJ COOPER JM BROWN GK LAKE BD PIKE D POULTON J
Citation: Kj. Morten et al., A NEW POINT MUTATION ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOMYOPATHY, Human molecular genetics, 2(12), 1993, pp. 2081-2087
ABNORMAL RNA PROCESSING ASSOCIATED WITH A NOVEL TRANSFER-RNA MUTATIONIN MITOCHONDRIAL-DNA - A POTENTIAL DISEASE MECHANISM
Authors: BINDOFF LA HOWELL N POULTON J MCCULLOUGH DA MORTEN KJ LIGHTOWLERS RN TURNBULL DM WEBER K
Citation: La. Bindoff et al., ABNORMAL RNA PROCESSING ASSOCIATED WITH A NOVEL TRANSFER-RNA MUTATIONIN MITOCHONDRIAL-DNA - A POTENTIAL DISEASE MECHANISM, The Journal of biological chemistry, 268(26), 1993, pp. 19559-19564
A MTDNA MUTATION ASSOCIATED WITH AN RNA PROCESSING DEFECT AND BIOCHEMICAL-ABNORMALITIES IN SKELETAL-MUSCLE (LIMITATIONS OF RHO ZERO LINES)
Authors: MORTEN KJ HALDANE F WEBER K POULTON J BINDOFF L
Citation: Kj. Morten et al., A MTDNA MUTATION ASSOCIATED WITH AN RNA PROCESSING DEFECT AND BIOCHEMICAL-ABNORMALITIES IN SKELETAL-MUSCLE (LIMITATIONS OF RHO ZERO LINES), American journal of human genetics, 53(3), 1993, pp. 1743-1743
Risultati: 1-11 |