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
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