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Results: 1-21 |
Results: 21
"Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child
Authors: Gempel, K von Praun, C Baumkotter, J Lehnert, W Ensenauer, R Gerbitz, KD Bauer, MF
Citation: K. Gempel et al., "Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child, EUR J PED, 160(9), 2001, pp. 548-551
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry
Authors: Stadler, S Gempel, K Bieger, I Pontz, BF Gerbitz, KD Bauer, MF Hofmann, S
Citation: S. Stadler et al., Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry, J INH MET D, 24(3), 2001, pp. 370-378
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
Authors: Jaksch, M Horvath, R Horn, N Auer, DP Macmillan, C Peters, J Gerbitz, KD Kraegeloh-Mann, I Muntau, A Karcagi, V Kalmanchey, R Lochmuller, H Shoubridge, EA Freisinger, P
Citation: M. Jaksch et al., Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy, NEUROLOGY, 57(8), 2001, pp. 1440-1446
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Authors: Jaksch, M Kleinle, S Scharfe, C Klopstock, T Pongratz, D Muller-Hocker, J Gerbitz, KD Liechti-Gallati, S Lochmuller, H Horvath, R
Citation: M. Jaksch et al., Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies, J MED GENET, 38(10), 2001, pp. 665-673
Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria
Authors: Rothbauer, U Hofmann, S Muhlenbein, N Paschen, SA Gerbitz, KD Neupert, W Brunner, M Bauer, MF
Citation: U. Rothbauer et al., Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria, J BIOL CHEM, 276(40), 2001, pp. 37327-37334
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
Authors: Jaksch, M Ogilvie, I Yao, JB Kortenhaus, G Bresser, HG Gerbitz, KD Shoubridge, EA
Citation: M. Jaksch et al., Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency, HUM MOL GEN, 9(5), 2000, pp. 795-801
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
Authors: Borner, GV Zeviani, M Tiranti, V Carrara, F Hoffmann, S Gerbitz, KD Lochmuller, H Pongratz, D Klopstock, T Melberg, A Holme, E Paabo, S
Citation: Gv. Borner et al., Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients, HUM MOL GEN, 9(4), 2000, pp. 467-475
MITOP, the mitochondrial proteome database: 2000 update
Authors: Scharfe, C Zaccaria, P Hoertnagel, K Jaksch, M Klopstock, T Dembowski, M Lill, R Prokisch, H Gerbitz, KD Neupert, W Mewes, HW Meitinger, T
Citation: C. Scharfe et al., MITOP, the mitochondrial proteome database: 2000 update, NUCL ACID R, 28(1), 2000, pp. 155-158
Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry
Authors: Gempel, K Gerbitz, KD Casetta, B Bauer, MF
Citation: K. Gempel et al., Rapid determination of total homocysteine in blood spots by liquid chromatography-electrospray ionization-tandem mass spectrometry, CLIN CHEM, 46(1), 2000, pp. 122-123
Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency
Authors: Horvath, R Lochmuller, H Stucka, R Yao, JB Shoubridge, EA Kim, SH Gerbitz, KD Jaksch, M
Citation: R. Horvath et al., Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency, BIOC BIOP R, 276(2), 2000, pp. 530-533
Genetics of mitochondria-related forms of syndromic diabetes mellitus
Authors: Hofmann, S Bauer, MF Gerbitz, KD
Citation: S. Hofmann et al., Genetics of mitochondria-related forms of syndromic diabetes mellitus, ENDOC UPD S, 10, 2000, pp. 91-108
Mitochondrial disorders. A diagnostic challenge in clinical chemistry
Authors: Bauer, MF Gempel, K Hofmann, S Jaksch, M Philbrook, C Gerbitz, KD
Citation: Mf. Bauer et al., Mitochondrial disorders. A diagnostic challenge in clinical chemistry, CLIN CH L M, 37(9), 1999, pp. 855-876
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
Authors: Tiranti, V Jaksch, M Hofmann, S Galimberti, C Hoertnagel, K Lulli, L Freisinger, P Bindoff, L Gerbitz, KD Comi, GP Uziel, G Zeviani, M Meitinger, T
Citation: V. Tiranti et al., Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency, ANN NEUROL, 46(2), 1999, pp. 161-166
MITOP: database for mitochondria-related proteins, genes and diseases
Authors: Scharfe, C Zaccaria, P Hoertnagel, K Jaksch, M Klopstock, T Lill, R Prokisch, H Gerbitz, KD Mewes, HW Meitinger, T
Citation: C. Scharfe et al., MITOP: database for mitochondria-related proteins, genes and diseases, NUCL ACID R, 27(1), 1999, pp. 153-155
Adult carnitine palmitoyltransferase II deficiency: Detection of characteristic carnitine esters in serum by tandem mass spectrometry
Authors: Gempel, K Kottlors, M Jaksch, M Gerbitz, KD Bauer, MF
Citation: K. Gempel et al., Adult carnitine palmitoyltransferase II deficiency: Detection of characteristic carnitine esters in serum by tandem mass spectrometry, J INH MET D, 22(8), 1999, pp. 941-942
Genetic and structural characterization of the human mitochondrial inner membrane translocase
Authors: Bauer, MF Gempel, K Reichert, AS Rappold, GA Lichtner, P Gerbitz, KD Neupert, W Brunner, M Hofmann, S
Citation: Mf. Bauer et al., Genetic and structural characterization of the human mitochondrial inner membrane translocase, J MOL BIOL, 289(1), 1999, pp. 69-82
The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom
Authors: Bauer, MF Rothbauer, U Muhlenbein, N Smith, RJH Gerbitz, KD Neupert, W Brunner, M Hofmann, S
Citation: Mf. Bauer et al., The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom, FEBS LETTER, 464(1-2), 1999, pp. 41-47
Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1)
Authors: Gerbitz, KD
Citation: Kd. Gerbitz, Reflexions on a newly discovered diabetogenic gene, wolframin (WFS1), DIABETOLOG, 42(5), 1999, pp. 627-630
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality
Authors: Burwinkel, B Kreuder, J Schweitzer, S Vorgerd, M Gempel, K Gerbitz, KD Kilimann, MW
Citation: B. Burwinkel et al., Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality, BIOC BIOP R, 261(2), 1999, pp. 484-487
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
Authors: Strom, TM Hortnagel, K Hofmann, S Gekeler, F Scharfe, C Rabl, W Gerbitz, KD Meitinger, T
Citation: Tm. Strom et al., Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein, HUM MOL GEN, 7(13), 1998, pp. 2021-2028
Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), Vlc (COX6C) and Vllc (COX7C) to chromosome bands 15q25, 8q22 -> q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14 -> q21 by FISH and radiation hybrid mapping
Authors: Hofmann, S Lichtner, P Schuffenhauer, S Gerbitz, KD Meitinger, T
Citation: S. Hofmann et al., Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), Vlc (COX6C) and Vllc (COX7C) to chromosome bands 15q25, 8q22 -> q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14 -> q21 by FISH and radiation hybrid mapping, CYTOG C GEN, 83(3-4), 1998, pp. 226-227
Risultati: 1-21 |