Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Autor: Selina Wray, Matthew Self, NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Patrick A Lewis, Jan-Willem Taanman, Natalie S Ryan, Colin J Mahoney, Yuying Liang, Michael J Devine, Una-Marie Sheerin, Henry Houlden, Huw R Morris, Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A Corriveau, Michael D'Andrea, Anthony H V Schapira, Ryan J Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F Boeve, Kevin Boylan, A Jon Stoessl, Owen A Ross, Nicholas J Maragakis, Jay Van Gerpen, Melissa Gerstenhaber, Katrina Gwinn, Ted M Dawson, Ole Isacson, Karen S Marder, Lorraine N Clark, Serge E Przedborski, Steven Finkbeiner, Jeffrey D Rothstein, Zbigniew K Wszolek, Martin N Rossor, John Hardy

Publikováno v: PLoS ONE, Vol 7, Iss 8, p e43099 (2012)

Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models

Externí odkaz: https://doaj.org/article/9a35e1d7ec9b460c9b9c8d8637a681ec

Neurological Complications in NF1

Autor: Una-Marie Sheerin, Rosalie E. Ferner

Publikováno v: Multidisciplinary Approach to Neurofibromatosis Type 1 ISBN: 9783319924496

Neurological complications are an important source of morbidity and mortality in individuals with Neurofibromatosis type 1 (NF1). Mild cognitive impairment is the commonest complication. Neurological complications can arise from tumours of the centra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eba14f9614e4567745d79e532932f11a
https://doi.org/10.1007/978-3-319-92450-2_13

Paroxysmal dyskinesias revisited: A review of 500 genetically proven cases and a new classification

Autor: Kailash P. Bhatia, Una-Marie Sheerin, Roberto Erro

Publikováno v: Movement Disorders. 29:1108-1116

Paroxysmal movement disorders are a heterogeneous group of conditions manifesting as episodic dyskinesia with sudden onset and lasting a variable duration. Based on the difference of precipitating factors, three forms are clearly recognized, namely,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d0d8001857169b14b81c64f15f567cec
https://doi.org/10.1002/mds.25933

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

The entity of parkinsonism and associated lipomatosis

Autor: Una-Marie Sheerin, Maria Stamelou, Kailash P. Bhatia, Nicholas W. Wood

The recognition of syndromic associations is important for identifying new disorders. Parkinson disease (PD) is usually a sporadic disorder; however, in approximately 5% of the cases, it can be familial.1 In some genetic forms of PD, the phenotype ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db3feffe147fda649ed8c6594055dd0
https://europepmc.org/articles/PMC4223088/