Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)
Horváth, R, Abicht, A, Holinski-Feder, E, Laner, A, Gempel, K, Prokisch, H, Lochmüller, H, Klopstock, T, Jaksch, M
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2006)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2006)
Get full text
Journal Article
Coenzyme Q10 deficiency and isolated myopathy
Horvath, R, Schneiderat, P, Schoser, B G H, Gempel, K, Neuen-Jacob, E, Plöger, H, Müller-Höcker, J, Pongratz, D E, Naini, A, DiMauro, S, Lochmüller, H
Published in Neurology (24.01.2006)
Published in Neurology (24.01.2006)
Get more information
Journal Article
Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation
Prestel, J., Gempel, K., Hauser, T. K., Schweitzer, K., Prokisch, H., Ahting, U., Freudenstein, D., Bueltmann, E., Naegele, T., Berg, D., Klopstock, T., Gasser, T.
Published in Journal of neurology (01.05.2008)
Published in Journal of neurology (01.05.2008)
Get full text
Journal Article
Screening for Carnitine Palmitoyltransferase II Deficiency by Tandem Mass Spectrometry
Gempel, K., Kiechl, S., Hofmann, S., Lochmüller, H., Kiechl‐Kohlendorfer, U., Willeit, J., Sperl, W., Rettinger, A., Bieger, I., Pongratz, D., Gerbitz, K. D., Bauer, M. F.
Published in Journal of inherited metabolic disease (01.02.2002)
Published in Journal of inherited metabolic disease (01.02.2002)
Get full text
Journal Article
M.P.3.01 Clinical, morphological, biochemical and genetic variability in pure mitochondrial myopathies of childhood onset
Wilichowski, E, Hobbiebrunken, E, Schulz-Schaeffer, W, Gempel, K, Sperl, W, Goebel, H, Hanefeld, F, Gärtner, J
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
Get full text
Journal Article
M.O.2 Mutations in the electron-transferring-flavoprotein dehydrogenase ( ETFDH ) gene cause myopathic form of coenzyme Q10 deficiency
Topaloglu, H, Gempel, K, Talim, B, Schneiderat, P, Schoser, B, Volkmar, H, Kale, G, Tokatli, A, Quinzii, C, Hirano, M, Naini, A, Di Mauro, S, Prokisch, H, Lochmüller, H, Horvath, R
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
Get full text
Journal Article
M.P.3.03 Treatment of myopathic form of coenzyme Q10 deficiency caused by electron-transferring-flavoprotein dehydrogenase ( ETFDH ) gene mutations
Topaloglu, H, Gempel, K, Talim, B, Schneiderat, P, Schoser, B, Volkmar, H, Kale, G, Tokatli, A, Quinzii, C, Hirano, M, Naini, A, Di Mauro, S, Prokisch, H, Lochmüller, H.H, Horvath, R
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
Get full text
Journal Article
Biological clearance of HEMA in guinea pigs
Reichl, F.X, Durner, J, Manhart, J, Spahl, W, Gempel, K, Kehe, K, Liebl, B, Walther, U.I, Hume, W.R, Hickel, R
Published in Biomaterials (01.05.2002)
Published in Biomaterials (01.05.2002)
Get full text
Journal Article
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry
Stadler, S., Gempel, K., Bieger, I., Pontz, B. F., Gerbitz, K.‐D., Bauer, M. F., Hofmann, S.
Published in Journal of inherited metabolic disease (01.06.2001)
Published in Journal of inherited metabolic disease (01.06.2001)
Get full text
Journal Article
Lipopolysaccharide and ceramide docking to CD14 provokes ligand‐specific receptor clustering in rafts
Pfeiffer, Alexandra, Böttcher, Alfred, Orsó, Evelyn, Kapinsky, Michael, Nagy, Peter, Bodnár, Andrea, Spreitzer, Ingo, Liebisch, Gerhard, Drobnik, Wolfgang, Gempel, Klaus, Horn, Markus, Holmer, Stefan, Hartung, Thomas, Multhoff, Gabriele, Schütz, Gerhard, Schindler †, Hansgeorg, Ulmer, Artur J., Heine, Holger, Stelter, Felix, Schütt, Christine, Rothe, Gregor, Szöllôsi, János, Damjanovich, Sándor, Schmitz, Gerd
Published in European journal of immunology (01.11.2001)
Published in European journal of immunology (01.11.2001)
Get full text
Journal Article
Acute valproate poisoning: pharmacokinetics, alteration in fatty acid metabolism, and changes during therapy
Eyer, Florian, Felgenhauer, Norbert, Gempel, Klaus, Steimer, Werner, Gerbitz, Klaus-Dieter, Zilker, Thomas
Published in Journal of clinical psychopharmacology (01.08.2005)
Published in Journal of clinical psychopharmacology (01.08.2005)
Get more information
Journal Article
Treatment of glycogenosis type V with ketogenic diet
Busch, Verena, Gempel, Klaus, Hack, Alexandra, Müller, Klaus, Vorgerd, Matthias, Lochmüller, Hanns, Baumeister, Friedrich A. M.
Published in Annals of neurology (01.08.2005)
Published in Annals of neurology (01.08.2005)
Get full text
Journal Article
Genetic and structural characterization of the human mitochondrial inner membrane translocase
Bauer, M F, Gempel, K, Reichert, A S, Rappold, G A, Lichtner, P, Gerbitz, K D, Neupert, W, Brunner, M, Hofmann, S
Published in Journal of molecular biology (28.05.1999)
Published in Journal of molecular biology (28.05.1999)
Get full text
Journal Article