Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Rita-Eva Varga"'
Autor:
Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J Christopher Hennings, Patricia Franzka, Antje K Huebner, Michael M Kessels, Christoph Biskup, Thomas J Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A Hübner
Publikováno v:
PLoS Genetics, Vol 11, Iss 8, p e1005454 (2015)
Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs. SPG11 is the most common autosomal-recessive form of HSPs and is caused by mutati
Externí odkaz:
https://doaj.org/article/1fa6a82e141e4992ad336808f0f0fef5
Autor:
Miriam Kokal, Nahal Brocke-Ahmadinejad, Rita-Eva Varga, Milena Zarkovic, Federico Ribaudo, Mukhran Khundadze, Marc Sylvester, Henry Stahlberg, Ian G. Ganley, Adeela Hussain, Patricia Franzka, Christian A. Hübner, Christian Beetz, Thanakorn Pungsrinont
Publikováno v:
Autophagy
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Hereditary spastic paraplegia (HSP) denotes genetically heterogeneous disorders characterized by leg spasticity due to degeneration of corticospinal axons. SPG11 and SPG15 have a similar clinical course and together are the most prevalent autosomal r
Autor:
Malcolm A. Lewis, William G. Newman, Sanjeev S. Bhaskar, Evren Süer, Wyatt W. Yue, Blanca Gener, Neil A. Roberts, Adnan Gucuk, Helen M. Stuart, Christian Beetz, Tarkan Soygür, Adrian S. Woolf, Jill E. Urquhart, M. Beatriz Orive Olondriz, Ömer Gülpınar, Neil A. Hanley, Burcu Bulum, Fırat Erdoğan, Aslı Kavaz, Fatoş Yalçınkaya, Zeynep Birsin Özçakar, Edward A. McKenzie, Sarah B. Daly, Mesrur Selcuk Silay, Emma Hilton, Rita Eva Varga, Berk Burgu, Andrew Berry, Murat Mermerkaya, Jonathan E. Dickerson
Publikováno v:
The American Journal of Human Genetics. 92:259-264
WOS:000315179600010 PubMed: 23313374 Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial
Autor:
Rita-Eva Varga, Elena Sánchez-Ferrero, Rizwan Mumtaz, Michaela Auer-Grumbach, Christian A. Hübner, Amir Jahic, Christian Beetz, Galina E. Rudenskaya
Publikováno v:
Analytical Biochemistry. 421:799-801
Multiplex ligation-dependent probe amplification (MLPA) has become a standard method for identifying copy number mutations in diagnostic and research settings. The occurrence of false-positive deletion findings and the underlying causes are well reco
Autor:
Gudrun Nürnberg, Seema Thakur, Rita-Eva Varga, Amber L. Schuh, Ewa Bomba-Warczak, Holger Thiele, Renu Saxena, Erik W. Dent, Anjon Audhya, Thomas Fothergill, Adam Johnson, Edwin R. Chapman, Nicole Hertel, Christian Beetz, Peter Nürnberg, Janine Altmüller
Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the corticospinal tract. Involvement of other neurons can ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5225430eac87a094be7079b0cf89e7e5
https://europepmc.org/articles/PMC3612678/
https://europepmc.org/articles/PMC3612678/
Autor:
Rita Eva Varga, Christian Beetz, Hicham Fadel, Michael A. Gonzalez, Josep Gamez, Fiorella Speziani, Rebecca Schüle, Irene Valenzuela, Peter Nürnberg, Galina Rudenskaia, Stephan Züchner, Janine Altmüller, Victoria Alvarez, Gudrun Nürnberg, James Y. Garbern, Holger Thiele
Publikováno v:
Human mutation. 34(6)
The hereditary spastic paraplegias (HSPs), a group of neurodegenerative movement disorders, are among the genetically most heterogeneous clinical conditions. Still, the more than 50 forms known so far apparently explain less than 80% of cases. The pr