Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Elke, Hobbiebrunken"'
Autor:
Nadja Minopoli, Hans Hartmann, Sabine Borrel, Charlotte Pfrimmer, Nicole Muschol, Bernd A. Neubauer, Martin Smitka, Janbernd Kirschner, Johanna Holzwarth, Elke Hobbiebrunken, Andreas Hahn, Ralf A. Husain, Julia B. Hennermann
Publikováno v:
Neuropediatrics. 53:039-045
Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a21e25c0fd2bb04c3a7d22d14de6585
https://doi.org/10.1055/s-0041-1735250
https://doi.org/10.1055/s-0041-1735250
Autor:
Anna G Mayhew, Dionne Moat, Michael P. McDermott, Michelle Eagle, Robert C. Griggs, Wendy M. King, Meredith K. James, Robert Muni-Lofra, Alison Shillington, Sarah Gregson, Lindsey Pallant, Christy Skura, Loretta A. Staudt, Katy Eichinger, Heather McMurchie, Rosanna Rabb, Marina Di Marco, Sarah Brown, Riccardo Zanin, Maria Teresa Arnoldi, Melissa McIntyre, Amelia Wilson, Lindsay N. Alfano, Linda P. Lowes, Colleen Blomgren, Evelin Milev, Mario Iodice, Amy Pasternak, Angela Chiu, Ilka Lehnert, Nicole Claus, Kathy A. Dieruf, Enrica Rolle, Alina Nicorici, Barbara Andres, Elke Hobbiebrunken, Gerda Roetmann, Victoria Kern, Matthew Civitello, Sibylle Vogt, Melissa J. Hayes, Cheryl Scholtes, Catherine Lacroix, Tara Gunn, Sinead Warner, Jennifer Newman, Andrea Barp, Katherine Kundrat, Staci Kovelman, Penny J. Powers, Michela Guglieri
The purpose of this study was to quantitate motor performance in 196 genetically confirmed steroid-naïve boys with Duchenne muscular dystrophy (DMD), to evaluate the test-retest reliability of measures of motor performance in young DMD boys, and to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e14527315758d1386a2c3218e74632
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85131130448
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85131130448
Autor:
Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover
Publikováno v:
Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Mutations in the sarcomeric protein titin, encoded byTTN, are emerging as a common cause of myopathies. The diagnosis of aTTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432f
http://hdl.handle.net/2066/231686
http://hdl.handle.net/2066/231686
Autor:
Wolfgang Wittmann, Oswald Hasselmann, Ulrike Schara, Elisabeth Steiner, Gudrun Schreiber, Matthias Baumann, Veronka Horber, Elke Hobbiebrunken, Marina Flotats-Bastardas, Benedikt Winter, Claudia Weiß, Oliver Schwartz, Gert Wiegand, Manuela Theophil, Barbara Plecko, Arpad von Moers, G. Bernert, Corinna Stoltenburg, Astrid Pechmann, Anna Kellersmann, Jessika Johannsen, Kurt Schlachter, Martin Smitka, Ekkehard Wilichowski, Janbernd Kirschner, Burkhard Stüve, Wolfgang Müller-Felber, C. Köhler, Maja von der Hagen, Ursula Gruber-Sedlmayr, Christof Reihle
Publikováno v:
Journal of neuromuscular diseases. 7(1)
The natural history of patients with spinal muscular atrophy (SMA) has changed due to advances in standard care and development of targeted treatments. Nusinersen was the first drug approved for the treatment of all SMA patients. The transfer of clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1120c9e95d0e7d5dcc8a5981b95afcfc
https://pubmed.ncbi.nlm.nih.gov/31744015
https://pubmed.ncbi.nlm.nih.gov/31744015
Publikováno v:
Nervenheilkunde.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4fe893ad8d511158d06da39ab453922
https://doi.org/10.1055/s-0039-1685108
https://doi.org/10.1055/s-0039-1685108
Autor:
Ingrid Kühnle, Lena Braunschweig, Konstantinos Tsaknakis, Jan Edler, Heiko M. Lorenz, Bernd Wilken, Anna K. Hell, Ekkehard Wilichowski, Elke Hobbiebrunken
Publikováno v:
Klinische Pädiatrie. 230:231-233
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::858aa0a407d6c4fcaabff767f8615219
https://doi.org/10.1055/s-0044-100621
https://doi.org/10.1055/s-0044-100621
Publikováno v:
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad28cfebba485dbd283190d007848c85
https://doi.org/10.1055/s-0038-1675901
https://doi.org/10.1055/s-0038-1675901
Autor:
Heiko M, Lorenz, Ingrid, Kühnle, Jan, Edler, Elke, Hobbiebrunken, Ekkehard, Wilichowski, Konstantinos, Tsaknakis, Bernd, Wilken, Lena, Braunschweig, Anna K, Hell
Publikováno v:
Klinische Padiatrie. 230(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7144799aff19e33a1cf81c388c431a1f
https://pubmed.ncbi.nlm.nih.gov/29378349
https://pubmed.ncbi.nlm.nih.gov/29378349
Autor:
Ulrike Schara, Rudolf Korinthenberg, David Schorling, Janbernd Kirschner, S. Thiele, Gudrun Schottmann, Ulrike Grieben, Ekkehard Wilichowski, Georg M. Stettner, Wolfgang Müller-Felber, C. Rensing-Zimmermann, U. Wein, Elke Hobbiebrunken, K. Konrad, D. Hauschke
Publikováno v:
Neuromuscular Disorders. 24:134-142
In preclinical studies growth hormone and its primary mediator IGF-1 have shown potential to increase muscle mass and strength. A single patient with spinal muscular atrophy reported benefit after compassionate use of growth hormone. Therefore we eva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::994ecb337394c40e4d4baf0500c8aeec
https://doi.org/10.1016/j.nmd.2013.10.011
https://doi.org/10.1016/j.nmd.2013.10.011
Publikováno v:
Deutsches Ärzteblatt international.
Background Until now, there has been no comprehensive long-term study in Germany on the development of extremely premature infants up to school age. Methods From October 2004 to September 2008, in the German federal state of Lower Saxony, 437 infants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d39843e4f5d29db3c36eb328f3e73f24
https://doi.org/10.3238/arztebl.2016.0871
https://doi.org/10.3238/arztebl.2016.0871