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IDENTIFICATION AND CHARACTERIZATION OF THE HUMAN PREPROTEIN TRANSLOCASE OF THE MITOCHONDRIAL INNER MEMBRANE
Authors: HOFMANN S BRUNNER M GEMPEL K NEUPERT W GERBITZ KD BAUER MF
Citation: S. Hofmann et al., IDENTIFICATION AND CHARACTERIZATION OF THE HUMAN PREPROTEIN TRANSLOCASE OF THE MITOCHONDRIAL INNER MEMBRANE, Molecular biology of the cell, 9, 1998, pp. 456-456
MITOP-DATABASE FOR MITOCHONDRIA-RELATED PROTEINS, GENES AND DISEASES
Authors: SCHARFE C ZACCARIA P LILL R HOERTNAGEL K GERBITZ KD MEWES HW MEITINGER T
Citation: C. Scharfe et al., MITOP-DATABASE FOR MITOCHONDRIA-RELATED PROTEINS, GENES AND DISEASES, European journal of human genetics, 6, 1998, pp. 4238-4238
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
PARTICIPATION OF CREATINE-KINASE IN CONTROL OF INSULIN-SECRETION
Authors: GEMPEL K BRDICZKA D KADDURAHDAOUK R WALLIMANN T KAUFHOLD P GERBITZ KD
Citation: K. Gempel et al., PARTICIPATION OF CREATINE-KINASE IN CONTROL OF INSULIN-SECRETION, Diabetologia, 40, 1997, pp. 427-427
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
MITOBASE - A MITOCHONDRIAL GENE DATABASE
Authors: SCHARFE C ZACCARIA P LILL R HOFMANN S GERBITZ KD MEWES HW MEITINGER T
Citation: C. Scharfe et al., MITOBASE - A MITOCHONDRIAL GENE DATABASE, American journal of human genetics, 61(4), 1997, pp. 1410-1410
SPERMINE DEFICIENCY IN GY MICE CAUSED BY DELETION OF THE SPERMINE SYNTHASE GENE
Authors: LORENZ B FRANCIS F GEMPEL K BODDRICH A JOSTEN M SCHMAHL W GERBITZ KD LEHRACH H MEITINGER T STROM TM
Citation: B. Lorenz et al., SPERMINE DEFICIENCY IN GY MICE CAUSED BY DELETION OF THE SPERMINE SYNTHASE GENE, American journal of human genetics, 61(4), 1997, pp. 1982-1982
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
POSSIBLE SIGNIFICANCE OF ADVANCED GLYCATION END-PRODUCTS IN SERUM IN END-STAGE RENAL-DISEASE AND IN LATE COMPLICATIONS OF DIABETES
Authors: DOLHOFERBLIESENER R LECHNER B GERBITZ KD
Citation: R. Dolhoferbliesener et al., POSSIBLE SIGNIFICANCE OF ADVANCED GLYCATION END-PRODUCTS IN SERUM IN END-STAGE RENAL-DISEASE AND IN LATE COMPLICATIONS OF DIABETES, European journal of clinical chemistry and clinical biochemistry, 34(4), 1996, pp. 355-361
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
THE CREATINE ANALOG CYCLOCREATINE INCREASES INSULIN-SECRETION IN INS-1 CELLS VIA A K-INDEPENDENT MECHANISM( CHANNEL)
Authors: GEMPEL K BRDICZKA D KADDURAHDAOUK R WALLIMANN T KAUFHOLD P GERBITZ KD
Citation: K. Gempel et al., THE CREATINE ANALOG CYCLOCREATINE INCREASES INSULIN-SECRETION IN INS-1 CELLS VIA A K-INDEPENDENT MECHANISM( CHANNEL), Diabetologia, 39, 1996, pp. 109-109
MITOCHONDRIA AND DIABETES - GENETIC, BIOCHEMICAL, AND CLINICAL IMPLICATIONS OF THE CELLULAR-ENERGY CIRCUIT
Authors: GERBITZ KD GEMPEL K BRDICZKA D
Citation: Kd. Gerbitz et al., MITOCHONDRIA AND DIABETES - GENETIC, BIOCHEMICAL, AND CLINICAL IMPLICATIONS OF THE CELLULAR-ENERGY CIRCUIT, Diabetes, 45(2), 1996, pp. 113-126
IMMUNOLOGICAL DETERMINATION OF ADVANCED GLYCOSYLATION END-PRODUCTS INHUMAN BLOOD AND URINE
Authors: DOLHOFERBLIESENER R LECHNER B DEPPISCH R RITZ E GERBITZ KD
Citation: R. Dolhoferbliesener et al., IMMUNOLOGICAL DETERMINATION OF ADVANCED GLYCOSYLATION END-PRODUCTS INHUMAN BLOOD AND URINE, Nephrology, dialysis, transplantation, 10(5), 1995, pp. 657-664
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
MATERNALLY INHERITED DIABETES AND DEAFNESS (MIDD) - A DISTINCT SUBTYPE OF DIABETES-ASSOCIATED WITH A MITOCHONDRIAL TRNA(LEU(UUR)) GENE POINT MUTATION
Authors: VANDENOUWELAND JMW LEMKES HHPJ GERBITZ KD MAASSEN JA
Citation: Jmw. Vandenouweland et al., MATERNALLY INHERITED DIABETES AND DEAFNESS (MIDD) - A DISTINCT SUBTYPE OF DIABETES-ASSOCIATED WITH A MITOCHONDRIAL TRNA(LEU(UUR)) GENE POINT MUTATION, Muscle & nerve, 1995, pp. 124-130
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
IMPAIRED IMMUNOGLOBULIN-G FC FRAGMENT FUNCTION IN DIABETICS IS CAUSEDBY A MECHANISM DIFFERENT FROM GLYCATION
Authors: DOLHOFERBLIESENER R LECHNER B GERBITZ KD
Citation: R. Dolhoferbliesener et al., IMPAIRED IMMUNOGLOBULIN-G FC FRAGMENT FUNCTION IN DIABETICS IS CAUSEDBY A MECHANISM DIFFERENT FROM GLYCATION, European journal of clinical chemistry and clinical biochemistry, 32(5), 1994, pp. 329-336
HEPARIN INDUCES ENDOTHELIAL EXTRACELLULAR-MATRIX ALTERATIONS AND BARRIER DYSFUNCTION
Authors: GURETZKI HJ SCHLEICHER E GERBITZ KD OLGEMOLLER B
Citation: Hj. Guretzki et al., HEPARIN INDUCES ENDOTHELIAL EXTRACELLULAR-MATRIX ALTERATIONS AND BARRIER DYSFUNCTION, American journal of physiology. Cell physiology, 36(4), 1994, pp. 30000946-30000954
Risultati: 1-25 | 26-33