Zobrazeno 1 - 2
of 2
pro vyhledávání: '"pathology [Optic Atrophy, Autosomal Dominant]"'
Autor:
Antonio Barrientos, Kristen L. Sund, Julia E. Dallman, Adriana P. Rebelo, Stephan Züchner, Zubair M. Ahmed, Xinjian Wang, Claudia Zanna, Andrea H. Németh, Leonardo Caporali, Carlos E. Prada, Neville Patel, Ion J. Campeanu, Feifei Tao, Susan M. Downes, Laura Krueger, Alessandra Maresca, Cynthia A. Prows, Anthony Antonellis, Saskia Groenewald, Lisa Abreu, Fiorella Speziani, Alleene V. Strickland, Yaping Yang, Michael A. Gonzalez, Taosheng Huang, Elizabeth K. Schorry, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Flavia Fontanesi, Laurie B. Griffin, Alexander J. Abrams, Robert B. Hufnagel, Jeffery Prince, Rocco Liguori, Raffaele Lodi, Omar A. Abdul-Rahman, Holly H. Zimmerman, Yanyan Peng
Publikováno v:
Europe PubMed Central
Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354
Nature genetics
Nature genetics 47(8), 926-932 (2015). doi:10.1038/ng.3354
Nature genetics
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c99761b28161ae30b9a283860a0ba15
https://doi.org/10.1038/ng.3354
https://doi.org/10.1038/ng.3354
Autor:
Marion Batra, Tobias Bonifert, Valerio Carelli, Michael A. Gonzalez, Yvonne Theurer, Caroline Schoenfeld, Ludger Schöls, Bernd Wissinger, Fiorella Speziani, Rebecca Schüle, Torsten Kluba, Kathrin N. Karle, Felix Tonagel, Stephan Züchner, Christian Wilhelm, Matthis Synofzik, Julia Wolf, York Kamenisch
Publikováno v:
Brain 137(8), 2164-2177 (2014). doi:10.1093/brain/awu165
The genetic basis of many optic neuropathies remains unclear. Bonifert et al. show that deep intronic OPA1 mutations can account for the disease in a number of previously unsolved cases. Moreover, an OPA1 modifier variant can generate syndromic 'opti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e85fdb5f1d55ecb6f061f957c95e9acd
https://pubmed.ncbi.nlm.nih.gov/24970096
https://pubmed.ncbi.nlm.nih.gov/24970096