Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4
Stendel, Claudia, Roos, Andreas, Deconinck, Tine, Pereira, Jorge, Castagner, François, Niemann, Axel, Kirschner, Janbernd, Korinthenberg, Rudolf, Ketelsen, Uwe-Peter, Battaloglu, Esra, Parman, Yesim, Nicholson, Garth, Ouvrier, Robert, Seeger, Jürgen, De Jonghe, Peter, Weis, Joachim, Krüttgen, Alexander, Rudnik-Schöneborn, Sabine, Bergmann, Carsten, Suter, Ueli, Zerres, Klaus, Timmerman, Vincent, Relvas, João B., Senderek, Jan
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Journal Article
The 6‐maleimidocaproyl hydrazone derivative of doxorubicin (DOXO‐EMCH) is superior to free doxorubicin with respect to cardiotoxicity and mitochondrial damage
Lebrecht, Dirk, Geist, Andrea, Ketelsen, Uwe‐Peter, Haberstroh, Jörg, Setzer, Bernhard, Kratz, Felix, Walker, Ulrich A.
Published in International journal of cancer (15.02.2007)
Published in International journal of cancer (15.02.2007)
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Journal Article
Evidence of nucleoside analogue reverse transcriptase inhibitor--associated genetic and structural defects of mitochondria in adipose tissue of HIV-infected patients
Walker, Ulrich A, Bickel, Markus, Lütke Volksbeck, Severine I, Ketelsen, Uwe-Peter, Schöfer, Helmut, Setzer, Bernhard, Venhoff, Nils, Rickerts, Volker, Staszewski, Schlomo
Published in Journal of acquired immune deficiency syndromes (1999) (01.02.2002)
Published in Journal of acquired immune deficiency syndromes (1999) (01.02.2002)
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p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria
Kirschner, Janbernd, Brune, Thomas, Wehnert, Manfred, Denecke, Jonas, Wasner, Christina, Feuer, Anja, Marquardt, Thorsten, Ketelsen, Uwe-Peter, Wieacker, Peter, Bönnemann, Carsten G., Korinthenberg, Rudolf
Published in Annals of neurology (01.01.2005)
Published in Annals of neurology (01.01.2005)
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Journal Article
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations
Kubisch, Christian, Ketelsen, Uwe-Peter, Goebel, Ingrid, Omran, Heymut
Published in Annals of neurology (01.02.2005)
Published in Annals of neurology (01.02.2005)
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Journal Article
Myogenin (Myf4) upregulation in trans-differentiating fibroblasts from a congenital myopathy with arrest of myogenesis and defects of myotube formation
Weise, Claudia, Dai, Fangping, Pröls, Felicitas, Ketelsen, Uwe-Peter, Dohrmann, Ulrike, Kirsch, Mathias, Brand-Saberi, Beate
Published in Anatomy and Embryology (01.11.2006)
Published in Anatomy and Embryology (01.11.2006)
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Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation
Ibañez-Tallon, Inés, Pagenstecher, Axel, Fliegauf, Manfred, Olbrich, Heike, Kispert, Andreas, Ketelsen, Uwe-Peter, North, Alison, Heintz, Nathaniel, Omran, Heymut
Published in Human molecular genetics (15.09.2004)
Published in Human molecular genetics (15.09.2004)
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Journal Article
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
Kley, Rudolf A., Hellenbroich, Yorck, van der Ven, Peter F. M., Fürst, Dieter O., Huebner, Angela, Bruchertseifer, Vera, Peters, Sören A., Heyer, Christoph M., Kirschner, Janbernd, Schröder, Rolf, Fischer, Dirk, Müller, Klaus, Tolksdorf, Karen, Eger, Katharina, Germing, Alfried, Brodherr, Turgut, Reum, Conny, Walter, Maggie C., Lochmüller, Hanns, Ketelsen, Uwe-Peter, Vorgerd, Matthias
Published in Brain (London, England : 1878) (01.12.2007)
Published in Brain (London, England : 1878) (01.12.2007)
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Journal Article
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15
Senderek, Jan, Bergmann, Carsten, Weber, Susanne, Ketelsen, Uwe-Peter, Schorle, Hubert, Rudnik-Schöneborn, Sabine, Büttner, Reinhard, Buchheim, Eckhard, Zerres, Klaus
Published in Human molecular genetics (01.02.2003)
Published in Human molecular genetics (01.02.2003)
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Journal Article
Axonal Neuropathy and Predominance of Type II Myofibers in Infantile Spinal Muscular Atrophy
Omran, Heymut, Ketelsen, Uwe-Peter, Heinen, Florian, Sauer, Manfred, Rudnik-Schönebom, Sabine, Wirth, Brunhilde, Zerres, Klaus, Kratzer, Wilfried, Korinthenberg, Rudolf
Published in Journal of child neurology (01.07.1998)
Published in Journal of child neurology (01.07.1998)
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Journal Article
Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1
Janecke, Andreas R., Dertinger, Susanne, Ketelsen, Uwe-Peter, Bereuter, Lothar, Simma, Burkhard, Müller, Thomas, Vogel, Wolfgang, Offner, Felix A.
Published in The Journal of pediatrics (01.11.2004)
Published in The Journal of pediatrics (01.11.2004)
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Journal Article
Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH5 as a Candidate Gene
Omran, Heymut, Haffner, Karsten, Volkel, Alexander, Kuehr, Joachim, Ketelsen, Uwe-Peter, Ross, Uwe-Henning, Konietzko, Nikolaus, Wienker, Thomas, Brandis, Matthias, Hildebrandt, Friedhelm
Published in American journal of respiratory cell and molecular biology (01.11.2000)
Published in American journal of respiratory cell and molecular biology (01.11.2000)
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Journal Article
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15
Senderek, Jan, Bergmann, Carsten, Weber, Susanne, Ketelsen, Uwe-Peter, Schorle, Hubert, Rudnik-Schöneborn, Sabine, Büttner, Reinhard, Buchheim, Eckhard, Zerres, Klaus
Published in Human molecular genetics (01.02.2004)
Published in Human molecular genetics (01.02.2004)
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Journal Article
Abundant minute myotubes in a patient who later developed centronuclear myopathy
WÖCKEL, L, KETELSEN, U.-P, STÖTTER, M, LAULE, S, MEYERMANN, R, BORNEMANN, A
Published in Acta neuropathologica (01.05.1998)
Published in Acta neuropathologica (01.05.1998)
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Journal Article
Early diagnosis of Duchenne muscular dystrophy
Beckmann, R, Sauer, M, Ketelsen, U P, Scheuerbrandt, G
Published in The Lancet (British edition) (08.07.1978)
Published in The Lancet (British edition) (08.07.1978)
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Journal Article
Rare combination of Becker muscular dystrophy and Klinefelter's syndrome in one patient
Zeitoun, Omeima, Ketelsen, Uwe-Peter, Wolff, Gerhard, Müller, Clemens R., Korinthenberg, Rudolf
Published in Brain & development (Tokyo. 1979) (01.07.1997)
Published in Brain & development (Tokyo. 1979) (01.07.1997)
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