Zobrazeno 1 - 10
of 336
pro vyhledávání: '"E. Bittner"'
Publikováno v:
Condensed Matter Physics, Vol 12, Iss 4, Pp 739-752 (2009)
The outcome of football games, as well as matches of most other popular team sports, depends on a combination of the skills of players and coaches and a number of external factors which, due to their complex nature, are presumably best viewed as rand
Externí odkaz:
https://doaj.org/article/fd47b7436bc64df9b68db43cd78fa89c
Autor:
Ingrid Bader, M. Freilinger, F. Landauer, S. Waldmüller, W. Mueller-Felber, C. Rauscher, W. Sperl, R. E. Bittner, W. M. Schmidt, J. A. Mayr
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of
Externí odkaz:
https://doaj.org/article/3788b27f1fac4656b0974f853cbcc19d
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee14a60e4da4c55fabc3032863b3f765
https://pubmed.ncbi.nlm.nih.gov/36603837
https://pubmed.ncbi.nlm.nih.gov/36603837
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a744de3a812f67a56c0b131fc380a3f6
https://doi.org/10.1007/s00112-021-01319-1
https://doi.org/10.1007/s00112-021-01319-1
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f737a9349481b574b8b9b9eb0054fca1
https://pubmed.ncbi.nlm.nih.gov/35790299
https://pubmed.ncbi.nlm.nih.gov/35790299
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56ae6ff71c96037aa49f1bae47a9ffd
http://europepmc.org/articles/PMC6774999
http://europepmc.org/articles/PMC6774999
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c97aae97a9e73407e038d8b53c6f033f
https://doi.org/10.1097/iae.0000000000001987
https://doi.org/10.1097/iae.0000000000001987
Autor:
R.R.D.S. Santiago, M. Teggia Droghi, F. Marrazzo, J. Fumagalli, G. Florio, L. Grassi, S. Gomes, C.A. Morais, O.P.S. Ramos, M. Bottiroli, R. Pinciroli, D. Imber, A. Bagchi, K. Shelton, A. Sonny, E. Bittner, M.B.P. Amato, R.M. Kacmarek, L. Berra, null Lung Rescue Team
Publikováno v:
TP52. TP052 ARDS STUDIES.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5cb95c38ca907e6edc5516a02ccee446
https://doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a2692
https://doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a2692
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a8459623841d3954d8e83d532569db
https://pubmed.ncbi.nlm.nih.gov/33511595
https://pubmed.ncbi.nlm.nih.gov/33511595