AAAAAA

   
Results: 1-20 |
Results: 20
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction
Authors: Hutchin, TP Navarro-Coy, NC Van Camp, G Tiranti, V Zeviani, M Schuelkes, M Jaksch, M Newton, V Mueller, RF
Citation: Tp. Hutchin et al., Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction, EUR J HUM G, 9(5), 2001, pp. 385-387
Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency
Authors: Kottlors, M Jaksch, M Ketelsen, UP Weiner, S Glocker, FX Lucking, CH
Citation: M. Kottlors et al., Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency, NEUROMUSC D, 11(8), 2001, pp. 757-759
Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy
Authors: Finsterer, J Stollberger, C Kopsa, W Jaksch, M
Citation: J. Finsterer et al., Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathy, CAN J CARD, 17(4), 2001, pp. 464-466
Phenotype variability in 130 adult patients with respiratory chain disorders
Authors: Finsterer, J Jarius, C Eichberger, H Jaksch, M
Citation: J. Finsterer et al., Phenotype variability in 130 adult patients with respiratory chain disorders, J INH MET D, 24(5), 2001, pp. 560-576
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
A mutation in mt tRNALeu ((UUR)) causing a neuropsychiatric syndrome with depression and cataract
Authors: Jaksch, M Lochmuller, H Schmitt, F Volpel, B Obermaier-Kusser, B Horvath, R
Citation: M. Jaksch et al., A mutation in mt tRNALeu ((UUR)) causing a neuropsychiatric syndrome with depression and cataract, NEUROLOGY, 57(10), 2001, pp. 1930-1931
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
Nail-patella syndrome associated with respiratory chain disorder
Authors: Finsterer, J Stollberger, C Wanschitz, J Jaksch, M Budka, H
Citation: J. Finsterer et al., Nail-patella syndrome associated with respiratory chain disorder, EUR NEUROL, 46(2), 2001, pp. 92-95
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle
Authors: Thirion, C Stucka, R Mendel, B Gruhler, A Jaksch, M Nowak, KJ Binz, N Laing, NG Lochmuller, H
Citation: C. Thirion et al., Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle, EUR J BIOCH, 268(12), 2001, pp. 3473-3482
The significance of graft-versus-host disease and pretransplantation minimal residual disease status to outcome after allogeneic stem cell transplantation in patients with acute lymphoblastic leukemia
Authors: Uzunel, M Mattsson, J Jaksch, M Remberger, M Ringden, O
Citation: M. Uzunel et al., The significance of graft-versus-host disease and pretransplantation minimal residual disease status to outcome after allogeneic stem cell transplantation in patients with acute lymphoblastic leukemia, BLOOD, 98(6), 2001, pp. 1982-1984
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
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
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Authors: Scharfe, C Hauschild, M Klopstock, T Janssen, AJM Heidemann, PH Meitinger, T Jaksch, M
Citation: C. Scharfe et al., A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I, J MED GENET, 37(9), 2000, pp. 669-673
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
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
Age and cause of death in mitochondrial diseases
Authors: Klopstock, T Jaksch, M Gasser, T
Citation: T. Klopstock et al., Age and cause of death in mitochondrial diseases, NEUROLOGY, 53(4), 1999, pp. 855-857
Different clinical aspects of debrancher deficiency myopathy
Authors: Kiechl, S Kohlendorfer, U Thaler, C Skladal, D Jaksch, M Obermaier-Kusser, B Willeit, J
Citation: S. Kiechl et al., Different clinical aspects of debrancher deficiency myopathy, J NE NE PSY, 67(3), 1999, pp. 364-368
Risultati: 1-20 |