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Results: 1-16 |
Results: 16
PROGRESSIVE MYOCLONUS EPILEPSY AND MITOCHONDRIAL MYOPATHY ASSOCIATED WITH MUTATIONS IN THE TRNA(SER(UCN)) GENE
Authors: JAKSCH M KLOPSTOCK T KURLEMANN G DORNER M HOFMANN S KLEINLE S HEGEMANN S WEISSERT M MULLERHOCKER J PONGRATZ D GERBITZ KD
Citation: M. Jaksch et al., PROGRESSIVE MYOCLONUS EPILEPSY AND MITOCHONDRIAL MYOPATHY ASSOCIATED WITH MUTATIONS IN THE TRNA(SER(UCN)) GENE, Annals of neurology, 44(4), 1998, pp. 635-640
A SYSTEMATIC MUTATION SCREEN OF 10 NUCLEAR AND 25 MITOCHONDRIAL CANDIDATE GENES IN 21 PATIENTS WITH CYTOCHROME-C-OXIDASE (COX) DEFICIENCY SHOWS TRNA(SER(UCN)) MUTATIONS IN A SUBGROUP WITH SYNDROMAL ENCEPHALOPATHY
Authors: JAKSCH M HOFMANN S KLEINLE S LIECHTIGALLATI S PONGRATZ DE MULLERHOCKER J JEDELE KB MEITINGER T GERBITZ KD
Citation: M. Jaksch et al., A SYSTEMATIC MUTATION SCREEN OF 10 NUCLEAR AND 25 MITOCHONDRIAL CANDIDATE GENES IN 21 PATIENTS WITH CYTOCHROME-C-OXIDASE (COX) DEFICIENCY SHOWS TRNA(SER(UCN)) MUTATIONS IN A SUBGROUP WITH SYNDROMAL ENCEPHALOPATHY, Journal of Medical Genetics, 35(11), 1998, pp. 895-900
POPULATION-GENETICS AND DISEASE SUSCEPTIBILITY - CHARACTERIZATION OF CENTRAL-EUROPEAN HAPLOGROUPS BY MTDNA GENE-MUTATIONS, CORRELATION WITHD-LOOP VARIANTS AND ASSOCIATION WITH DISEASE
Authors: HOFMANN S JAKSCH M BEZOLD R MERTENS S AHOLT S PAPROTTA A GERBITZ KD
Citation: S. Hofmann et al., POPULATION-GENETICS AND DISEASE SUSCEPTIBILITY - CHARACTERIZATION OF CENTRAL-EUROPEAN HAPLOGROUPS BY MTDNA GENE-MUTATIONS, CORRELATION WITHD-LOOP VARIANTS AND ASSOCIATION WITH DISEASE, Human molecular genetics, 6(11), 1997, pp. 1835-1846
WOLFRAM (DIDMOAD) SYNDROME AND LEBER HEREDITARY OPTIC NEUROPATHY (LHON) ARE ASSOCIATED WITH DISTINCT MITOCHONDRIAL-DNA HAPLOTYPES
Authors: HOFMANN S BEZOLD R JAKSCH M OBERMAIERKUSSER B MERTENS S KAUFHOLD P RABL W HECKER W GERBITZ KD
Citation: S. Hofmann et al., WOLFRAM (DIDMOAD) SYNDROME AND LEBER HEREDITARY OPTIC NEUROPATHY (LHON) ARE ASSOCIATED WITH DISTINCT MITOCHONDRIAL-DNA HAPLOTYPES, Genomics, 39(1), 1997, pp. 8-18
ANALYSIS OF THE MITOCHONDRIAL-DNA FROM PATIENTS WITH WOLFRAM (DIDMOAD) SYNDROME
Authors: HOFMANN S BEZOLD R JAKSCH M KAUFHOLD P OBERMAIERKUSSER B GERBITZ KD
Citation: S. Hofmann et al., ANALYSIS OF THE MITOCHONDRIAL-DNA FROM PATIENTS WITH WOLFRAM (DIDMOAD) SYNDROME, Molecular and cellular biochemistry, 174(1-2), 1997, pp. 209-213
A CENTRAL-EUROPEAN POPULATION CAN BE CHARACTERIZED BY CERTAIN MTDNA HAPLOGROUPS - ONE IS ASSOCIATED WITH SYNDROMIC DIABETES (DIDMOAD)
Authors: HOFMANN S JAKSCH M BEZOLD R GERBITZ KD
Citation: S. Hofmann et al., A CENTRAL-EUROPEAN POPULATION CAN BE CHARACTERIZED BY CERTAIN MTDNA HAPLOGROUPS - ONE IS ASSOCIATED WITH SYNDROMIC DIABETES (DIDMOAD), Diabetologia, 40, 1997, pp. 663-663
DISEASE RELEVANCE OF THE SO-CALLED SECONDARY LEBER HEREDITARY OPTIC NEUROPATHY MUTATIONS
Authors: HOFMANN S BEZOLD R JAKSCH M KAUFHOLD P OBERMAIERKUSSER B GERBITZ KD
Citation: S. Hofmann et al., DISEASE RELEVANCE OF THE SO-CALLED SECONDARY LEBER HEREDITARY OPTIC NEUROPATHY MUTATIONS, American journal of human genetics, 60(6), 1997, pp. 1539-1542
A NOVEL COMBINATION OF MITOCHONDRIAL TRANSFER-RNA AND ND1 GENE-MUTATIONS IN A SYNDROME WITH MELAS, CARDIOMYOPATHY, AND DIABETES-MELLITUS
Authors: JAKSCH M HOFMANN S KAUFHOLD P OBERMAIERKUSSER B ZIERZ S GERBITZ KD
Citation: M. Jaksch et al., A NOVEL COMBINATION OF MITOCHONDRIAL TRANSFER-RNA AND ND1 GENE-MUTATIONS IN A SYNDROME WITH MELAS, CARDIOMYOPATHY, AND DIABETES-MELLITUS, Human mutation, 7(4), 1996, pp. 358-360
GLUCAGON RECEPTOR GENE MUTATION IN NIDDM
Authors: JAKSCH M HOFMANN S GERBITZ KD
Citation: M. Jaksch et al., GLUCAGON RECEPTOR GENE MUTATION IN NIDDM, Diabetologia, 39(2), 1996, pp. 248-248
MITOCHONDRIAL DIABETES-MELLITUS - A REVIEW
Authors: GERBITZ KD VANDENOUWELAND JMW MAASSEN JA JAKSCH M
Citation: Kd. Gerbitz et al., MITOCHONDRIAL DIABETES-MELLITUS - A REVIEW, Biochimica et biophysica acta. Molecular basis of disease, 1271(1), 1995, pp. 253-260
DIDMOAD OR WOLFRAM-SYNDROME - A MITOCHONDRIAL-MEDIATED DISORDER
Authors: BEZOLD R HOFMANN S JAKSCH M KAUFHOLD P GERBITZ KD
Citation: R. Bezold et al., DIDMOAD OR WOLFRAM-SYNDROME - A MITOCHONDRIAL-MEDIATED DISORDER, Diabetes care, 18(4), 1995, pp. 583-584
SCREENING FOR MITOCHONDRIAL-DNA (MTDNA) POINT MUTATIONS USING NONRADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS
Authors: JAKSCH M GERBITZ KD KILGER C
Citation: M. Jaksch et al., SCREENING FOR MITOCHONDRIAL-DNA (MTDNA) POINT MUTATIONS USING NONRADIOACTIVE SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS, Clinical biochemistry, 28(5), 1995, pp. 503-509
MITOCHONDRIAL-DNA, AGING AND SUDDEN-INFANT-DEATH-SYNDROME
Authors: GERBITZ KD JAKSCH M
Citation: Kd. Gerbitz et M. Jaksch, MITOCHONDRIAL-DNA, AGING AND SUDDEN-INFANT-DEATH-SYNDROME, European journal of clinical chemistry and clinical biochemistry, 32(6), 1994, pp. 487-488
FEATURES OF MTDNA MUTATION PATTERNS IN EUROPEAN PEDIGREES AND SPORADIC CASES WITH LEBER HEREDITARY OPTIC NEUROPATHY
Authors: OBERMAIERKUSSER B LORENZ B SCHUBRING S PAPROTTA A ZERRES K MEITINGER T MEIRE F COCHAUX P BLANKENAGEL A KOMMERELL G JAKSCH M GERBITZ KD
Citation: B. Obermaierkusser et al., FEATURES OF MTDNA MUTATION PATTERNS IN EUROPEAN PEDIGREES AND SPORADIC CASES WITH LEBER HEREDITARY OPTIC NEUROPATHY, American journal of human genetics, 55(5), 1994, pp. 1063-1066
DIABETES-MELLITUS IS ONE OF THE HETEROGENEOUS PHENOTYPIC FEATURES OF A MITOCHONDRIAL-DNA POINT MUTATION WITHIN THE TRANSFER-RNA LEU(UUR) GENE
Authors: GERBITZ KD PAPROTTA A JAKSCH M ZIERZ S DRECHSEL J
Citation: Kd. Gerbitz et al., DIABETES-MELLITUS IS ONE OF THE HETEROGENEOUS PHENOTYPIC FEATURES OF A MITOCHONDRIAL-DNA POINT MUTATION WITHIN THE TRANSFER-RNA LEU(UUR) GENE, FEBS letters, 321(2-3), 1993, pp. 194-196
A MITOCHONDRIAL TRANSFER-RNA POINT MUTATION IS ASSOCIATED WITH DIABETES-MELLITUS
Authors: JAKSCH M PAPROTTA A DRECHSEL J GERBITZ KD
Citation: M. Jaksch et al., A MITOCHONDRIAL TRANSFER-RNA POINT MUTATION IS ASSOCIATED WITH DIABETES-MELLITUS, Diabetologia, 36, 1993, pp. 10000003-10000003
Risultati: 1-16 |