Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Todd Dunaway"'
Autor:
Sami I. Harik, Susan J. Hayflick, Mark A. Tarnopolsky, Nardo Nardocci, Cyril Mignot, John Hardy, Thomas Meitinger, Giovanna Zorzi, Tobias B. Haack, Lynn Sanford, Allison Gregory, Eleanna Kara, Steven Skinner, Penelope Hogarth, Elisabeth Graf, Delphine Héron, Nathalie Boddaert, Henry Houlden, Era Hanspal, Steven J. Frucht, Thomas Wieland, Esther Meyer, Manju A Kurian, Holger Prokisch, Michael C. Kruer, Barbara Garavaglia, Thomas Schwarzmayr, Connie Schrander-Stumpel, Stephan M. Cuno, Kailash P. Bhatia, Vasuki Dandu, Tim M. Strom, Todd Dunaway
Publikováno v:
The American Journal of Human Genetics; Vol 91
The American Journal of Human Genetics
Am. J. Hum. Genet. 91, 1144-1149 (2012)
The American Journal of Human Genetics
Am. J. Hum. Genet. 91, 1144-1149 (2012)
Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations in WDR45, a gene located at Xp11.23 and encoding a beta-propeller s
Autor:
Mark A. Tarnopolsky, Esther Meyer, Henry Houlden, Tobias B. Haack, Giovanna Zorzi, Jean-Pierre Lin, Martyn Carey, Era Hanspal, Barbara Garavaglia, Allison Gregory, Sarah J. Crisp, Steven J. Frucht, Vasuki Dandu, Susan J. Hayflick, Margaret Kaminska, Lynn Sanford, Delphine Héron, Todd Dunaway, Kailash P. Bhatia, Kenton R. Holden, Thomas Meitinger, Manju A Kurian, Michael C. Kruer, Holger Prokisch, Peter Lunt, Sami I. Harik, John Hardy, Karine Lascelles, Steven Skinner, Penelope Hogarth, Connie Schrander-Stumpel, Nardo Nardocci, Cyril Mignot, Nathalie Boddaert, Rajith de Silva, Dawn E. Saunders, Stephan M. Cuno, James C. Anderson
Publikováno v:
Brain 136, 1708-1717 (2013)
Brain; Vol 136
Brain, 136(6), 1708-1717. Oxford University Press
Brain; Vol 136
Brain, 136(6), 1708-1717. Oxford University Press
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one ano
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a40fcaa8372b935079c6dab6f2765ba1
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=25745
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=25745