Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!

Autor: Bettina Balint, Nicholas W. Wood, Gavin Charlesworth, Roberto Erro, Kailash P. Bhatia

Publikováno v: Movement Disorders. 34:589-592

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a086a55eb82b7e2c4a003446d9de3eb
https://doi.org/10.1002/mds.27638

Delineating the phenotype of autosomal-recessive HPCA mutations: Not only isolated dystonia!

Autor: Bettina, Balint, Gavin, Charlesworth, Roberto, Erro, Nicholas W, Wood, Kailash P, Bhatia

Publikováno v: Movement disorders : official journal of the Movement Disorder Society. 34(4)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::df2420d8192f2e355ba79f8d8a36dd82
https://pubmed.ncbi.nlm.nih.gov/30145809

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

Autor: Mina Ryten, Daniah Trabzuni, J. Ding, Bart Post, Albert Hofman, Jean-Charles Lambert, Olaf Riess, Michele T.M. Hu, Andrew B. Singleton, Stephen Sawcer, X. Huang, Caroline H. Williams-Gray, H. R. Zielke, C Smith, Peter Lichtner, B.P.C. van de Warrenburg, Bernard Ravina, F. Durif, Ellen Sidransky, Mike A. Nalls, Karen E. Morrison, J. R. Gibbs, Robert L. Johnson, Peter Heutink, David J. Burn, Michael Bonin, Sarah Edkins, T. Gasser, Luigi Ferrucci, H. Chau, Sampath Arepalli, Chris C. A. Spencer, Yoav Ben-Shlomo, Honglei Chen, Caroline M. Tanner, Zoltán Bochdanovits, Ruth Chia, Heiko Huber, Kari Stefansson, Dena G. Hernandez, Jean-Marc Taymans, Veerle Baekelandt, Iakov N. Rudenko, Evy Lobbestael, Huw R. Morris, A. Goate, C. Moorby, Lois E. Greene, Manu Sharma, Emma Gray, Ira Shoulson, Janet Brooks, Juan C. Troncoso, K. Shaw, Laura Civiero, Alessandra Biffi, Hans Scheffer, Matthew Moore, Alan B. Zonderman, S. Sveinbjornsdottir, Avazeh Tashakkori-Ghanbaria, Jean-Christophe Corvol, Vincent Plagnol, H. Petursson, Alice Kaganovich, M M Wickremaratchi, Nigel Williams, Thomas Foltynie, Henk W. Berendse, P. Damier, A. Strange, J. M. Cooper, Simon C. Potter, Patricia Limousin, Jiali Gao, Sophie Winder-Rhodes, M. Van Der Brug, Marie Vidailhet, Elisa Greggio, Nicholas W. Wood, Kevin Talbot, M. R. Cookson, Johanna Huttenlocher, J.J. van Hilten, Dan L. Longo, Alisdair McNeill, François Tison, K.D. van Dijk, David N. Hauser, Allissa Dillman, Suneil K. Kalia, Lorraine V. Kalia, Patrick F. Chinnery, Alexis Brice, Kelechi Ndukwe, J. F. Dartigues, M. Gardner, Mohamad Saad, Palmi V. Jonsson, Kailash P. Bhatia, Roger A. Barker, André G. Uitterlinden, Maria Martinez, R. Walker, Elisa Majounie, Fernando Rivadeneira, Joel S. Perlmutter, Panagiotis Deloukas, Bryan J. Traynor, Ese E. Mudanohwo, Grisel Lopez, UM Sheerin, Joanne D. Stockton, Thomas Illig, Andres M. Lozano, Rita Guerreiro, David T. Dexter, Andrew J. Lees, Sean Chong, Gavin Hudson, Cordelia Langford, Günther Deuschl, Ravindran Kumaran, Janice L. Holton, Tamas Revesz, B.R. Bloem, Alexandra Beilina, Clare Elizabeth Harris, Daniela Berg, Anthony H.V. Schapira, Suzanne Lesage, Sean S. O'Sullivan, Albert R. Hollenbeck, James A. Pearson, R. M. A. de Bie, Delia Lorenz, Sarah E. Hunt, Richard O'Brien, Gavin Charlesworth, Maciej B. Olszewski, Stacy Steinberg, Kathrin Brockmann, Carl E Clarke, Patrizia Rizzu, Claudia Schulte, Hreinn Stefansson, Daan C. Velseboer, Omar Gustafsson, Jonathan R. Evans, Alexandra Durr, Javier Simón-Sánchez, Pierre Pollak, H. Z. Munchen, Jose Bras, Carl Counsell, John Hardy

Publikováno v: Proceedings of the National Academy of Sciences, 111(7), 2626-2631
Proceedings of the National Academy of Sciences USA, 111, 2626-31
Proceedings of the National Academy of Sciences of the United States of America, 111(7), 2626-2631. National Academy of Sciences
Proc. Natl. Acad. Sci. U.S.A. 111, 2626-2631 (2014)
Proceedings of the National Academy of Sciences USA, 111, 7, pp. 2626-31

Item does not contain fulltext Mutations in leucine-rich repeat kinase 2 (LRRK2) cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for sporadic PD. Using protein-protein interaction arrays, we identified BCL2-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f039110c8ce3d814891d0913e28b739c
https://doi.org/10.1073/pnas.1318306111

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

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations

Autor: Christos, Proukakis, Maryiam, Shoaee, James, Morris, Timothy, Brier, Eleanna, Kara, Una-Marie, Sheerin, Gavin, Charlesworth, Eduardo, Tolosa, Henry, Houlden, Nicholas W, Wood, Anthony H, Schapira

Publikováno v: Movement Disorders

Background Although alpha-synuclein (SNCA) is crucial to the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB), mutations in the gene appear to be rare. We have recently hypothesized that somatic mutations in early developm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0ff63a6d3f36116b2dec995349ca511f
https://pubmed.ncbi.nlm.nih.gov/24752924