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Results: 1-9 |
Results: 9
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
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
SUCCESSFUL TREATMENT OF HEART-FAILURE WITH ENOXIMONE IN A PATIENT WITH CYTOCHROME-C-OXIDASE DEFICIENCY
Authors: TIMNIK A MUHLBAUER S MERKENSCHLAGER A REITER K LINDNER W PAETZKE J OBERMAIERKUSSER B ROSCHER A NICOLAI T
Citation: A. Timnik et al., SUCCESSFUL TREATMENT OF HEART-FAILURE WITH ENOXIMONE IN A PATIENT WITH CYTOCHROME-C-OXIDASE DEFICIENCY, European journal of pediatrics, 155(6), 1996, pp. 525-525
NEUROLOGICAL DISORDERS IN MEMBERS OF FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY (LHON) CAUSED BY DIFFERENT MITOCHONDRIAL MUTATIONS
Authors: MEIRE FM VANCOSTER R COCHAUX P OBERMAIERKUSSER B CANDAELE C MARTIN JJ
Citation: Fm. Meire et al., NEUROLOGICAL DISORDERS IN MEMBERS OF FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY (LHON) CAUSED BY DIFFERENT MITOCHONDRIAL MUTATIONS, Ophthalmic genetics, 16(3), 1995, pp. 119-126
LEBER-ASSOCIATED DYSTONIA WITH PUTAMEN NECROSIS
Authors: VANCOSTER R MISSON JP MEIRE F OBERMAIERKUSSER B
Citation: R. Vancoster et al., LEBER-ASSOCIATED DYSTONIA WITH PUTAMEN NECROSIS, Annals of neurology, 36(3), 1994, pp. 522-523
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
ALTERED PATTERN OF INSULIN-RECEPTOR ISOTYPES IN SKELETAL-MUSCLE MEMBRANES OF TYPE-2 (NON-INSULIN-DEPENDENT) DIABETIC SUBJECTS
Authors: KELLERER M SESTI G SEFFER E OBERMAIERKUSSER B PONGRATZ DE MOSTHAF L HARING HU
Citation: M. Kellerer et al., ALTERED PATTERN OF INSULIN-RECEPTOR ISOTYPES IN SKELETAL-MUSCLE MEMBRANES OF TYPE-2 (NON-INSULIN-DEPENDENT) DIABETIC SUBJECTS, Diabetologia, 36(7), 1993, pp. 628-632
Risultati: 1-9 |