Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Autor: Suzanne Lesage, Valérie Drouet, Elisa Majounie, Vincent Deramecourt, Maxime Jacoupy, Aude Nicolas, Florence Cormier-Dequaire, Sidi Mohamed Hassoun, Claire Pujol, Sorana Ciura, Zoi Erpapazoglou, Tatiana Usenko, Claude-Alain Maurage, Mourad Sahbatou, Stefan Liebau, Jinhui Ding, Basar Bilgic, Murat Emre, Nihan Erginel-Unaltuna, Gamze Guven, François Tison, Christine Tranchant, Marie Vidailhet, Jean-Christophe Corvol, Paul Krack, Anne-Louise Leutenegger, Michael A. Nalls, Dena G. Hernandez, Peter Heutink, J. Raphael Gibbs, John Hardy, Nicholas W. Wood, Thomas Gasser, Alexandra Durr, Jean-François Deleuze, Meriem Tazir, Alain Destée, Ebba Lohmann, Edor Kabashi, Andrew Singleton, Olga Corti, Alexis Brice, Yves Agid, Mathieu Anheim, Anne-Marie Bonnet, Michel Borg, Emmanuel Broussolle, Philippe Damier, Alexandra Dürr, Franck Durif, Stephan Klebe, Maria Martinez, Pierre Pollak, Olivier Rascol, Marc Vérin, François Viallet, Jean Christophe Corvol, Sampath Arepalli, Roger A. Barker, Yoav Ben-Shlomo, Daniela Berg, Francesco Bettella, Kailash Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bastiaan R. Bloem, Zoltan Bochdanovits, Michael Bonin, Jose M. Bras, Kathrin Brockmann, Janet Brooks, David J. Burn, Gavin Charlesworth, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E. Clarke, Mark R. Cookson, Carl Counsell, Jean-François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, Jing Dong, Frank Durif, Sarah Edkins, Valentina Escott-Price, Jonathan R. Evans, Thomas Foltynie, Jianjun Gao, Michelle Gardner, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert Hollenbeck, Peter Holmans, Janice Holton, Michèle Hu, Xuemei Huang, Heiko Huber, Gavin Hudson, Sarah E. Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Laura L. Kilarski, Iris E. Jansen, Jean-Charles Lambert, Cordelia Langford, Andrew Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Steven Lubbe, Codrin Lungu, María Martinez, Walter Mätzler, Alisdair McNeill, Catriona Moorby, Matthew Moore, Karen E. Morrison, Ese Mudanohwo, Sean S. O’Sullivan, Michael J. Owen, Justin Pearson, Joel S. Perlmutter, Hjörvar Pétursson, Vincent Plagnol, Bart Post, Simon Potter, Bernard Ravina, Tamas Revesz, Olaf Riess, Fernando Rivadeneira, Patrizia Rizzu, Mina Ryten, Mohamad Saad, Javier Simón-Sánchez, Stephen Sawcer, Anthony Schapira, Hans Scheffer, Claudia Schulte, Manu Sharma, Karen Shaw, Una-Marie Sheerin, Ira Shoulson, Joshua Shulman, Ellen Sidransky, Chris C.A. Spencer, Hreinn Stefánsson, Kári Stefánsson, Joanna D. Stockton, Amy Strange, Kevin Talbot, Carlie M. Tanner, Avazeh Tashakkori-Ghanbaria, Daniah Trabzuni, Bryan J. Traynor, André G. Uitterlinden, Daan Velseboer, Robert Walker, Bart van de Warrenburg, Mirdhu Wickremaratchi, Caroline H. Williams-Gray, Sophie Winder-Rhodes, Isabel Wurster, Nigel Williams, Huw R. Morris, Andrew B. Singleton

Publikováno v: Lesage, S, Drouet, V, Majounie, E, Bochdanovits, Z & Brice, A 2016, ' Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. ', American Journal of Human Genetics, no. 98, 3, pp. 500-513 . https://doi.org/10.1016/j.ajhg.2016.01.014
American Journal of Human Genetics, 98, 3, pp. 500-13
American Journal of Human Genetics, 500-513. Cell Press
ISSUE=98;STARTPAGE=500;ENDPAGE=513;ISSN=0002-9297;TITLE=American Journal of Human Genetics
American Journal of Human Genetics, 98, 500-13
American journal of human genetics, 98(3), 500-513. Cell Press
American Journal of Human Genetics, Vol. 98, No 3 (2016) pp. 500-513
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩
American Journal of Human Genetics, 2016, 98 (3), pp.500-513. ⟨10.1016/j.ajhg.2016.01.014⟩
American Journal of Human Genetics, 98(3), 500-513
The American journal of human genetics 98(3), 500-513 (2016). doi:10.1016/j.ajhg.2016.01.014

Contains fulltext : 167923.pdf (Publisher’s version ) (Open Access) Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f98d0bf818bad4fd1d6a8e74a6b556
https://hdl.handle.net/1871.1/2b5c412d-ee54-4a85-a9c6-fb0fef858cc4

Effects of barbexaclone on Lennox-Gastaut syndrome

Autor: Clovis Oliveira, Ismar Fernandes, Jose M. Bras de Lima, Luiza Alves Duro, Claudio Vieira da Silva

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 36, Iss 4, Pp 340-349 (1978)

The Lennox-Gastaut syndrome has been a source of interest for many workers both from a clinical and electroencephalographic view point. Treatment has always posed problems. Without suggesting an ideal medication for this syndrome, the authors have ob

Externí odkaz: https://doaj.org/article/110b161107d5499db042c084d5fc0867