Mutation Analysis of Consanguineous Moroccan Patients with Parkinson’s Disease Combining Microarray and Gene Panel

Autor: Ahmed Bouhouche, Christelle Tesson, Wafaa Regragui, Mounia Rahmani, Valérie Drouet, Houyam Tibar, Zouhayr Souirti, Rafiqua Ben El Haj, Naima Bouslam, Mohamed Yahyaoui, Alexis Brice, Ali Benomar, Suzanne Lesage

Publikováno v: Frontiers in Neurology, Vol 8 (2017)

During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson’s disease (PD), representing a worldwide frequency of 5–10%. Among them, 10 genes have been associated with autosomal recessi

Externí odkaz: https://doaj.org/article/7d19805c66a144fbaea0ae953be271c0

LKB1 and Notch Pathways Interact and Control Biliary Morphogenesis.

Autor: Pierre-Alexandre Just, Alexis Poncy, Sara Charawi, Rajae Dahmani, Massiré Traore, Typhanie Dumontet, Valérie Drouet, Florent Dumont, Hélène Gilgenkrantz, Sabine Colnot, Benoit Terris, Cédric Coulouarn, Frédéric Lemaigre, Christine Perret

Publikováno v: PLoS ONE, Vol 10, Iss 12, p e0145400 (2015)

LKB1 is an evolutionary conserved kinase implicated in a wide range of cellular functions including inhibition of cell proliferation, regulation of cell polarity and metabolism. When Lkb1 is inactivated in the liver, glucose homeostasis is perturbed,

Externí odkaz: https://doaj.org/article/412c98799492461e88d629a8b8f7f103

SYNJ1

Autor: Valérie Drouet, Suzanne Lesage, Alexis Brice

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f1ea2061d4b10972e262d1a5e1dbc9e4
https://doi.org/10.1007/978-3-319-67199-4_101866

Mutation Analysis of Consanguineous Moroccan Patients with Parkinson’s Disease Combining Microarray and Gene Panel

Autor: Zouhayr Souirti, Ahmed Bouhouche, Naima Bouslam, M. Rahmani, Rafiqua Ben El Haj, Valérie Drouet, Suzanne Lesage, Alexis Brice, Houyam Tibar, Mohamed Yahyaoui, Christelle Tesson, Wafaa Regragui, Ali Benomar

Publikováno v: Frontiers in Neurology
Frontiers in Neurology, Frontiers, 2017, 8, pp.567. ⟨10.3389/fneur.2017.00567⟩
Frontiers in Neurology, 2017, 8, pp.567. ⟨10.3389/fneur.2017.00567⟩
Frontiers in Neurology, Vol 8 (2017)

International audience; During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson's disease (PD), representing a worldwide frequency of 5–10%. Among them, 10 genes have been associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6343992ce851680f3d621d817dd1c229
https://hal.sorbonne-universite.fr/hal-01633814/file/fneur-08-00567.pdf

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