AAAAAA

   
Results: 1-6 |
Results: 6

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

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

Authors: KLEINLE S SCHNEIDER V MOOSMANN P BRANDNER S KRAHENBUHL S LIECHTIGALLATI S
Citation: S. Kleinle et al., A NOVEL MITOCHONDRIAL TRNA(PHE) MUTATION INHIBITING ANTICODON STEM FORMATION ASSOCIATED WITH A MUSCLE DISEASE, Biochemical and biophysical research communications, 247(1), 1998, pp. 112-115

Authors: KLEINLE S WIESMANN U SUPERTIFURGA A KRAHENBUHL S BOLTSHAUSER E REICHEN J LIECHTIGALLATI S
Citation: S. Kleinle et al., DETECTION AND CHARACTERIZATION OF MITOCHONDRIAL-DNA REARRANGEMENTS INPEARSON AND KEARNS-SAYRE SYNDROMES BY LONG PCR, Human genetics, 100(5-6), 1997, pp. 643-650

Authors: KLEINLE S RAMELLI GP LIECHTIGALLATI S
Citation: S. Kleinle et al., MATERNALLY INHERITED HEARING-LOSS AND MYOCLONIC EPILEPSY WITH A POINTMUTATION IN THE MITOCHONDRIAL TRANSFER-RNA SER(UCN) GENE, American journal of human genetics, 61(4), 1997, pp. 1822-1822

Authors: RUESCH S KRAHENBUHL S KLEINLE S LIECHTIGALLATI S SCHAFFNER T WERMUTH B WEBER J WIESMANN UN
Citation: S. Ruesch et al., COMBINED 3-METHYLGLUTACONIC AND 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA WITH ENDOCARDIAL FIBROELASTOSIS AND DILATATIVE CARDIOMYOPATHY IN MALE AND FEMALE SIBLINGS WITH PARTIAL DEFICIENCY OF COMPLEX II III IN FIBROBLASTS/, Enzyme & protein, 49(5-6), 1996, pp. 321-329
Risultati: 1-6 |