Zobrazeno 1 - 10
of 139
pro vyhledávání: '"U.-P. Ketelsen"'
Autor:
U.-P. Ketelsen
Publikováno v:
Acta Neurologica Scandinavica
In Duchenne muscular dystrophy (DMD), morphological abnormalities in freeze fractured plasma membranes of skeletal muscle cells (decrease of intramembraneous particles and orthogonal particle arrays) led to the hypothesis that a defect of the plasmal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58e926f26b06f38bb699175693c68880
http://europepmc.org/articles/PMC7159638
http://europepmc.org/articles/PMC7159638
Histopathological changes of the external eye muscles and of the peripheral skeletal muscles of 2 patients with Kearns-Sayre syndrome are demonstrated histochemically and electron microscopically. In one case the progression of the mitochondrial anom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8e52dfba45f43810c3c045cb652f46e
https://doi.org/10.1159/000406257
https://doi.org/10.1159/000406257
Autor:
U.-P. Ketelsen, Heymut Omran, Heike Olbrich, R. Korinthenberg, N. Boehm, A. Geibel-Zehender, Judit Horvath
Publikováno v:
Neuropediatrics. 34:270-273
Danon disease (DD) is a rare lysosomal glycogen storage disease with normal acid maltase activity, which is characterised clinically by cardiomyopathy and myopathy, and a variable degree of mental retardation. The causative gene, LAMP2, has been mapp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd5acc50713f67b7a60749b513b70afd
https://doi.org/10.1055/s-2003-43262
https://doi.org/10.1055/s-2003-43262
Autor:
U.-P. Ketelsen, Matthias Brandis, Heymut Omran, Uwe-Henning Ross, Thomas F. Wienker, Nikolaus Konietzko, Joachim Kuehr, Karsten Häffner, Friedhelm Hildebrandt, Alexander Völkel
Publikováno v:
American Journal of Respiratory Cell and Molecular Biology. 23:696-702
Reduced mucociliary clearance in primary ciliary dyskinesia (PCD) causes recurrent infections of the upper and lower respiratory tract. The disease is usually inherited as an autosomal recessive trait. To identify a gene locus for PCD, we studied a l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e5f7aa4a49a85c1d63a563ebfb38e6a
https://doi.org/10.1165/ajrcmb.23.5.4257
https://doi.org/10.1165/ajrcmb.23.5.4257
Autor:
U.-P. Ketelsen, Mechthild Stötter, Antje Bornemann, Sven Laule, Richard Meyermann, Lars Wöckel
Publikováno v:
Acta Neuropathologica. 95:547-551
Centronuclear myopathy (CNM) is a congenital myopathy which manifests itself as a severe neonatal (also termed myotubular myopathy), early-onset, or adult form. The histological pattern of each is marked by a considerable number of nuclei of muscle f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c95b165a207c597e93e412efbaf31c8
https://doi.org/10.1007/s004010050836
https://doi.org/10.1007/s004010050836
Autor:
T. Krause, Markus Uhl, U.-P. Ketelsen, J. von Kempis, Bodo Grimbacher, P. Kalden, Hans-Hartmut Peter, E. Röther, P. Vaith, Benedikt Volk, J. Gutfleisch
Publikováno v:
Rheumatology International. 17:207-213
Our objective was to study the value of 99mtechnetium-pyrophosphate (99mTc-PYP) muscle scintigraphy and magnetic resonance imaging (MRI) in detecting areas of likely muscle inflammation and in increasing the rate of positive muscle biopsies in patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f44054b8c2a68209ed65b7cbcbecf35
https://doi.org/10.1007/s002960050036
https://doi.org/10.1007/s002960050036
Autor:
Brunhilde Wirth, Klaus Zerres, Guido Stoll, Sabine Rudnik-Schöneborn, A. Baborie, Benedikt Volk, U.-P. Ketelsen, M. Graf, M. Sauer, Rudolf Korinthenberg, Clemens Oliver Hanemann
Publikováno v:
Annals of Neurology. 42:364-368
Three newborn siblings presented with generalized weakness, asphyxia, facial diplegia, and external ophthalmoplegia. Electrophysiological testing showed inexcitability of motor and sensory nerves and myographic signs of denervation. Nerve biopsies an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3c9ba9bd1c874309a488b9d422e0c77
https://doi.org/10.1002/ana.410420314
https://doi.org/10.1002/ana.410420314
Publikováno v:
Der Internist. 38:688-691
Es wird uber einen 56jahrigen Patienten berichtet, der im Dezember 1994 wegen Odemen der Extremitaten mit anschliesender Ausbildung einer verdickten, indurierten und erythematosen Haut, Myalgien, einem starken Gewichtsverlust und Krankheitsgefuhl sta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9cb4f84376469e6a32f111eb14e2b81
https://doi.org/10.1007/s001080050081
https://doi.org/10.1007/s001080050081
Autor:
Thomas Klopstock, Günther Deuschl, F. Bischof, Peter Seibel, U.-P. Ketelsen, K Gerok, Heinz Reichmann
Publikováno v:
Acta Neuropathologica. 90:126-129
Mitochondrial DNA (mtDNA) deletions have been found in the majority of patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. A large number of different mtDNA deletions have been identified. They generally spare the tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0928c23ab338ab236b92c5f178feb5b
https://doi.org/10.1007/bf00294310
https://doi.org/10.1007/bf00294310