Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Reginald E. Bittner"'
Autor:
Fabian Dorninger, Attila Kiss, Peter Rothauer, Alexander Stiglbauer-Tscholakoff, Stefan Kummer, Wedad Fallatah, Mireia Perera-Gonzalez, Ouafa Hamza, Theresa König, Michael B. Bober, Tiscar Cavallé-Garrido, Nancy E. Braverman, Sonja Forss-Petter, Christian Pifl, Jan Bauer, Reginald E. Bittner, Thomas H. Helbich, Bruno K. Podesser, Hannes Todt, Johannes Berger
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 1884 (2023)
Inherited deficiency in ether lipids, a subgroup of glycerophospholipids with unique biochemical and biophysical properties, evokes severe symptoms in humans resulting in a multi-organ syndrome. Mouse models with defects in ether lipid biosynthesis h
Externí odkaz:
https://doaj.org/article/27f6c1f4349e423a9d4986b66977275c
Autor:
Melanie T. Achleitner, Katja Steinbrücker, Susanne L. Oswald, Elisabeth Göschl, Reginald E. Bittner, Wolfgang M. Schmidt, Elke Tiefenthaler, Emma Hammerl, Anna Eisl, Doris Mayr, Johannes A. Mayr, Saskia B. Wortmann
Publikováno v:
Neuropediatrics.
Objective By loading transfer RNAs with their cognate amino acids, aminoacyl-tRNA synthetases (ARS) are essential for protein translation. Both cytosolic ARS1-deficiencies and mitochondrial ARS2 deficiencies can cause severe diseases. Amino acid supp
Publikováno v:
Monatsschrift Kinderheilkunde. 169:1093-1103
Die primaren Erkrankungen der Muskulatur (Myopathien) im Kindesalter sind uberwiegend genetisch bedingt und bedurfen meist einer raschen Abklarung, da eine prazise Diagnose Voraussetzung fur die Einschatzung der Prognose, fur die optimale individuell
Autor:
Lilli Winter, Monika Kustermann, Büsra Ernhofer, Harald Höger, Reginald E Bittner, Wolfgang M Schmidt
Publikováno v:
Life science alliance. 5(11)
Aberrant expression of dystrophin, utrophin, dysferlin, or calpain-3 was originally identified in muscular dystrophies (MDs). Increasing evidence now indicates that these proteins might act as tumor suppressors in myogenic and non-myogenic cancers. A
Autor:
Hannu Tuominen, Päivi Vieira, Yaping Yang, Silvana van Koningsbruggen, Simone Weiss, Johanna Uusimaa, Matti Myllykoski, Jonne Westermann, Reginald E. Bittner, Marja-Leena Väisänen, Jukka S. Moilanen, Lauri A. Aaltonen, Wolfgang M. Schmidt, Astrid S Plomp, Reetta Hinttala, Andrea M. Lewis, Outi Kuismin, Hannaleena Kokkonen, Elisa Rahikkala, Peppi Koivunen, G. Bernert, Xia Wang, Mitja I. Kurki, Aarno Palotie, Naemeh Nayebzadeh, Lorraine Potocki
Publikováno v:
Genetics in Medicine
Genetics in medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
Genetics in Medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
Genetics in medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
Genetics in Medicine, 21(10), 2355-2363. Lippincott Williams and Wilkins
A new syndrome with hypotonia, intellectual disability, and eye abnormalities (HIDEA) was previously described in a large consanguineous family. Linkage analysis identified the recessive disease locus, and genome sequencing yielded three candidate ge
Autor:
Stefan Zotter, Ursula Schmidt-Erfurth, Bernhard Baumann, Michael Pircher, Wolfgang M. Schmidt, Christoph K. Hitzenberger, Reginald E. Bittner, Markus Ritter, Philipp Roberts, Gabor Deak, Georgios Mylonas
Publikováno v:
Retina. 39:558-569
PURPOSE To examine the involvement of the retinal pigment epithelium (RPE) in the presence of vitelliform macular lesions (VML) in Best vitelliform macular dystrophy (BVMD), autosomal recessive bestrophinopathy, and adult-onset vitelliform macular de
Autor:
Reginald E. Bittner, Sonja Gobara, Wolfgang M. Schmidt, Sandy Siegert, Michael Freilinger, Thomas Pletschko
Publikováno v:
Neuropediatrics. 52(5)
Background Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel HPCA gene variant in a pediatric patient an
Autor:
Anna Schossig, Wolfgang H. Muss, Wolfgang M. Schmidt, Stephan Wenninger, Reginald E. Bittner, Simone Weiss, Benedikt Schoser, Sabine Rudnik-Schöneborn, Matthias Baumann, Ulrich A. Schatz
Publikováno v:
Neurology. 91:e1690-e1694
ObjectiveTo expand the clinical and genetic spectrum of nemaline myopathy 10 by a series of Austrian and German patients with a milder disease course and missense mutations in LMOD3.MethodsWe characterized the clinical features and the genetic status
Autor:
Wolfgang M Schmidt, Mohammed H Uddin, Sandra Dysek, Karin Moser-Thier, Christine Pirker, Harald Höger, Inge M Ambros, Peter F Ambros, Walter Berger, Reginald E Bittner
Publikováno v:
PLoS Genetics, Vol 7, Iss 4, p e1002042 (2011)
Albeit genetically highly heterogeneous, muscular dystrophies (MDs) share a convergent pathology leading to muscle wasting accompanied by proliferation of fibrous and fatty tissue, suggesting a common MD-pathomechanism. Here we show that mutations in
Externí odkaz:
https://doaj.org/article/cd2f6af390884feda24df1499b8b54d0
Autor:
Xaver Koenig, Sandra Dysek, Stefanie Kimbacher, Agnes K Mike, Rene Cervenka, Peter Lukacs, Katrin Nagl, Xuan B Dang, Hannes Todt, Reginald E Bittner, Karlheinz Hilber
Publikováno v:
PLoS ONE, Vol 6, Iss 5, p e20300 (2011)
Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including cardiomyopathy and cardiac arrhythmias. Recent research suggests that impaired voltage-gated ion channels in dyst
Externí odkaz:
https://doaj.org/article/d7a93c7b1197432bb45bbd1e4537d328