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Results: 1-10 |
Results: 10
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
Authors: Grohmann, K Schuelke, M Diers, A Hoffmann, K Lucke, B Adams, C Bertini, E Leonhardt-Horti, H Muntoni, F Ouvrier, R Pfeufer, A Rossi, R Van Maldergem, L Wilmshurst, JM Wienker, TR Sendtner, M Rudnik-Schoneborn, S Zerres, K Hubner, C
Citation: K. Grohmann et al., Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1, NAT GENET, 29(1), 2001, pp. 75-77
An economic method for the fluorescent labeling of PCR fragments
Authors: Schuelke, M
Citation: M. Schuelke, An economic method for the fluorescent labeling of PCR fragments, NAT BIOTECH, 18(2), 2000, pp. 233-234
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Backer muscular dystrophy
Authors: Kerst, B Mennerich, D Schuelke, M Stoltenburg-Didinger, G von Moers, A Gossrau, R van Landeghem, FKH Speer, A Braun, T Hubner, C
Citation: B. Kerst et al., Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Backer muscular dystrophy, NEUROMUSC D, 10(8), 2000, pp. 572-577
Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy
Authors: Schuelke, M Finckh, B Sistermans, EA Ausems, MGEM Hubner, C von Moers, A
Citation: M. Schuelke et al., Ataxia with vitamin E deficiency: Biochemical effects of malcompliance with vitamin E therapy, NEUROLOGY, 55(10), 2000, pp. 1584-1586
Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients
Authors: Schuelke, M Elsner, A Finckh, B Kohlschutter, A Hubner, C Brigelius-Flohe, R
Citation: M. Schuelke et al., Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients, J LIPID RES, 41(10), 2000, pp. 1543-1551
Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
Authors: Schuelke, M Smeitink, J Mariman, E Loeffen, J Plecko, B Trijbels, F Stockler-Ipsiroglu, S van den Heuvel, L
Citation: M. Schuelke et al., Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy, NAT GENET, 21(3), 1999, pp. 260-261
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency
Authors: Rubio-Gozalbo, ME Smeitink, JAM Ruitenbeek, W Ter Laak, H Mullaart, RA Schuelke, M Mariman, ECM Sengers, RCA Gabreels, FJM
Citation: Me. Rubio-gozalbo et al., Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency, NEUROLOGY, 52(2), 1999, pp. 383-386
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency
Authors: Schuelke, M Mayatepek, E Inter, M Becker, M Pfeiffer, E Speer, A Hubner, C Finckh, B
Citation: M. Schuelke et al., Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency, J PEDIAT, 134(2), 1999, pp. 240-244
cDNA of eight nuclear encoded subunits of NADH : ubiquinone oxidoreductase: Human complex I cDNA characterization completed
Authors: Loeffen, JLCM Triepels, RH van den Heuvel, LP Schuelke, M Buskens, CAF Smeets, RJP Trijbels, JMF Smeitink, JAM
Citation: Jlcm. Loeffen et al., cDNA of eight nuclear encoded subunits of NADH : ubiquinone oxidoreductase: Human complex I cDNA characterization completed, BIOC BIOP R, 253(2), 1998, pp. 415-422
The first nuclear-encoded complex I mutation in a patient with leigh syndrome
Authors: Loeffen, J Smeitink, A Triepels, R Smeets, R Schuelke, M Sengers, R Trijbels, F Hamel, B Mullaart, R van den Heuvel, L
Citation: J. Loeffen et al., The first nuclear-encoded complex I mutation in a patient with leigh syndrome, AM J HU GEN, 63(6), 1998, pp. 1598-1608
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