Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Werner Stenzel"'
Publikováno v:
Current Opinion in Neurology. 33:590-603
Purpose of review Discoveries of myositis-specific antibodies, transcriptomic signatures, and clinicoseropathological correlation support classification of idiopathic inflammatory myopathies (IIM) into four major subgroups: dermatomyositis, immune-me
Autor:
Daniel J. Salchow, Joanna Schneider, Werner Stenzel, Susanne Morales-Gonzalez, Markus Schuelke, Akio Kihara, Takayuki Sassa, Ellen Knierim, Dominik Seelow, Noomi Mueller
Publikováno v:
Journal of Medical Genetics. 56:164-175
BackgroundVery long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two patients with a dominantELOVL1mutat
Autor:
Werner Stenzel, Christian Hagel, Alfried Kohlschütter, Randi Koll, Josefine Radke, Esther Gill, Hans H. Goebel, Angela Schulz, Lars Wiese, Markus Schuelke
Publikováno v:
Annals of Clinical and Translational Neurology
Objective The neuronal ceroid lipofuscinoses (NCL) are genetic degenerative disorders of brain and retina. NCL with juvenile onset (JNCL) is genetically heterogeneous but most frequently caused by mutations of CLN3. Classical juvenile CLN3 includes a
Autor:
Christin Lorenz, Vietxuan Phan, Vitali Matyash, Burkhard Gess, Jens Schmidt, Michaela Thanisch, Werner Stenzel, Jörg B. Schulz, Sebastian Malchow, Andreas Roos, Irmgard Diepolder
Publikováno v:
Journal of Proteome Research. 17:2925-2936
Schwann cells (SCs) are essential in the production of the axon-wrapping myelin sheath and provide trophic function and repair mechanisms in the peripheral nerves. Consequently, well-characterized SC in vitro models are needed to perform preclinical
Autor:
Arpad von Moers, M. Radke, Hans H. Goebel, Werner Stenzel, Angela Abicht, Josefine Radke, Mona Dreesmann
Publikováno v:
Seminars in Pediatric Neurology. 26:56-58
A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of ty
Publikováno v:
Seminars in pediatric neurology. 29
Congenital myopathies (CM) are a large and heterogeneous group of disorders. Many new myopathies with congenital onset have recently been described phenotypically, and their molecular elucidation has rapidly ensued consecutively. CM reported between
Autor:
Markus Schuelke, Tomasz Zemojtel, Werner Stenzel, Denise Horn, Björn Fischer-Zirnsak, Bernhard Weschke, Ellen Knierim
Publikováno v:
American Journal of Medical Genetics Part A. 170:2274-2281
We describe two siblings who were affected with early onset focal seizures, severe progressive postnatal microcephaly, muscular hypertonia, feeding problems and bouts of apnea, only minimal psychomotor development, as well as death in infancy and chi
Autor:
Nikolaus Deigendesch, Werner Stenzel
Pathogen-induced inflammatory diseases mostly involving, but sometimes exclusively affecting, the central nervous system (CNS) manifest with a plethora of signs and symptoms. The different diseases are still difficult to cure despite modern diagnosti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::261c6a0fae5e7efd724c49c3665b2587
https://doi.org/10.1016/b978-0-12-802395-2.00016-x
https://doi.org/10.1016/b978-0-12-802395-2.00016-x
Publikováno v:
Brain : a journal of neurology. 139(Pt 12)
Sir, With great interest, we read the article by Sevilla et al. (2016) delineating mutations in MORC 2 as a novel genetic cause for axonal Charcot-Marie-Tooth (CMT) disease type 2Z (OMIM #616688) with dominant inheritance. The authors detected MORC2
Autor:
Andreas Schulze, Werner Stenzel, Michel Mittelbronn, Patrick N. Harter, Matthias Kieslich, Anne K. Braczynski, Ulrich Drott, Klaus Müller, Rita Horvath, Karl H. Plate, Dominique S. Tews, Angela Abicht, Stefan Vlaho, Stephanie Kleinle, Anna-Eva Blank, Hans H. Goebel, Ilka Wittig
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2015 (2015)
BioMed Research International, Vol 2015 (2015)
TMEM70 is involved in the biogenesis of mitochondrial ATP synthase and mutations in theTMEM70gene impair oxidative phosphorylation. Herein, we report on pathology and treatment of ATP synthase deficiency in four siblings. A consanguineous family of R