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Profiling transcription initiation in human aged brain using deep-CAGE

Francescatto, Margherita ; Pardo, Luba ; Rizzu, Patrizia ; Vitezic, Morana ; Simón-Sánchez, Javier ; Takahashi, Hazuki ; Daub, Carsten ; Carninci, Piero ; Heutink, Peter

BMC Bioinformatics, 2011, Vol.12(Suppl 11), p.A8-A8 [Periódico revisado por pares]

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Parkinson disease GWAS: The question of lumping or splitting is back again

Simón-Sánchez, Javier ; Gasser, Thomas

Neurology, 2015, Vol.84(10), pp.966-967 [Periódico revisado por pares]

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Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease (Extended Homozygosity in EOPD)

Simón-Sánchez, Javier ; Kilarski, Laura L ; Nalls, Michael A ; Martinez, Maria ; Schulte, Claudia ; Holmans, Peter ; Gasser, Thomas ; Hardy, John ; Singleton, Andrew B ; Wood, Nicholas W ; Brice, Alexis ; Heutink, Peter ; Williams, Nigel ; Morris, Huw R

PLoS ONE, 2012, Vol.7(3), p.e28787 [Periódico revisado por pares]

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HPCA confirmed as a genetic cause of DYT2‐like dystonia phenotype

Atasu, Burcu ; Hanagasi, Hasmet ; Bilgic, Basar ; Pak, Meltem ; Erginel‐Unaltuna, Nihan ; Hauser, Ann‐Kathrin ; Guven, Gamze ; Simón‐Sánchez, Javier ; Heutink, Peter ; Gasser, Thomas ; Lohmann, Ebba

Movement Disorders, August 2018, Vol.33(8), pp.1354-1358 [Periódico revisado por pares]

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The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

Klebe, Stephan ; Golmard, Jean-Louis ; Nalls, Michael A ; Saad, Mohamad ; Singleton, Andrew B ; Bras, Jose M ; Hardy, John ; Simon-Sanchez, Javier ; Heutink, Peter ; Kuhlenbäumer, Gregor ; Charfi, Rim ; Klein, Christine ; Hagenah, Johann ; Gasser, Thomas ; Wurster, Isabel ; Lesage, Suzanne ; Lorenz, Delia ; Deuschl, Günther ; Durif, Franck ; Pollak, Pierre ; Damier, Philippe ; Tison, François ; Durr, Alexandra ; Amouyel, Philippe ; Lambert, Jean-Charles ; Tzourio, Christophe ; Maubaret, Cécilia ; Charbonnier-Beaupel, Fanny ; Tahiri, Khadija ; Vidailhet, Marie ; Martinez, Maria ; Brice, Alexis ; Corvol, Jean-Christophe Agid, Y ; Anheim, M ; Bonnet, A-M ; Borg, M ; Brice, A. ; Broussolle, E ; Corvol, J-C ; Damier, Ph. ; Destée, A. ; Durr, A ; Durif, F ; Klebe, S ; Lohmann, E ; Martinez, M ; Penet, C ; Pollak, P ; Krack, P ; Rascol, O ; Tison, F ; Tranchant, C ; Vérin, M ; Viallet, F ; Plagnol, Vincent ; Bras, Jose M ; Hernandez, Dena G ; Sharma, Manu ; Sheerin, Una-Marie ; Saad, Mohamad ; Simón-Sánchez, Javier ; Schulte, Claudia ; Lesage, Suzanne ; Sveinbjörnsdóttir, Sigurlaug ; Amouyel, Philippe ; Arepalli, Sampath ; Band, Gavin ; Barker, Roger A ; Bellinguez, Céline ; Ben-Shlomo, Yoav ; Berendse, Henk W ; Berg, Daniela ; Bhatia, Kailash ; de Bie, Rob MA ; Biffi, Alessandro ; Bloem, Bas ; Bochdanovits, Zoltan ; Bonin, Michael ; Brockmann, Kathrin ; Brooks, Janet ; Burn, David J ; Charlesworth, Gavin ; Chen, Honglei ; Chinnery, Patrick F ; Chong, Sean ; Clarke, Carl E ; Cookson, Mark R ; Cooper, J Mark ; Corvol, Jean Christophe ; Counsell, Carl ; Damier, Philippe ; Dartigues, Jean-François ; Deloukas, Panos ; Dexter, David T ; van Dijk, Karin D ; Dillman, Allissa ; Durif, Frank ; Edkins, Sarah ; Evans, Jonathan R ; Foltynie, Thomas ; Freeman, Colin ; Gao, Jianjun ; Gardner, Michelle ; Gibbs, Raphael ; Goate, Alison ; Gray, Emma ; Guerreiro, Rita ; Gústafsson, Ómar ; Harris, Clare ; Hellenthal, Garrett ; van Hilten, Jacobus J ; Hofman, Albert ; Hollenbeck, Albert ; Holton, Janice ; Hu, Michele ; Huang, Xuemei ; Huber, Heiko ; Hudson, Gavin ; Hunt, Sarah E ; Huttenlocher, Johanna ; Illig, Thomas ; Jónsson, Pálmi V ; Langford, Cordelia ; Lees, Andrew ; Lichtner, Peter ; Limousin, Patricia ; Lopez, Grisel ; Lorenz, Delia ; Mcneill, Alisdair ; Moorby, Catriona ; Morris, Huw ; Morrison, Karen E ; Mudanohwo, Ese ; O'Sullivan, Sean S ; Pearson, Justin ; Pearson, Richard ; Perlmutter, Joel S ; Pétursson, Hjörvar ; Pirinen, Matti ; Pollak, Pierre ; Post, Bart ; Potter, Simon ; Ravina, Bernard ; Revesz, Tamas ; Riess, Olaf ; Rivadeneira, Fernando ; Rizzu, Patrizia ; Ryten, Mina ; Sawcer, Stephen ; Schapira, Anthony ; Scheffer, Hans ; Shaw, Karen ; Shoulson, Ira ; Sidransky, Ellen ; de Silva, Rohan ; Smith, Colin ; Spencer, Chris Ca ; Stefánsson, Hreinn ; Steinberg, Stacy ; Stockton, Joanna D ; Strange, Amy ; Su, Zhan ; Talbot, Kevin ; Tanner, Carlie M ; Tashakkori-Ghanbaria, Avazeh ; Tison, François ; Trabzuni, Daniah ; Traynor, Bryan J ; Uitterlinden, G ; Vandrovcova, Jana ; Velseboer, Daan ; Vidailhet, Marie ; Vukcevic, Damjan ; Walker, Robert ; van de Warrenburg, Bart ; Weale, Michael E ; Wickremaratchi, Mirdhu ; Williams, Nigel ; Williams-Gray, Caroline H ; Winder-Rhodes, Sophie ; Martinez, Maria ; Donnelly, Peter ; Hardy, John ; Heutink, Peter ; Brice, Alexis ; Gasser, Thomas ; Wood, Nicholas W ; Singleton, Andrew B

Journal of Neurology, Neurosurgery & Psychiatry, 13 June 2013, Vol.84(6), p.666 [Periódico revisado por pares]

BMJ Publishing Group Ltd

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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

Johnson, Janel O ; Gibbs, J. Raphael ; Megarbane, Andre ; Urtizberea, J. Andoni ; Hernandez, Dena G ; Foley, A. Reghan ; Arepalli, Sampath ; Pandraud, Amelie ; Simón - Sánchez, Javier ; Clayton, Peter ; Reilly, Mary M ; Muntoni, Francesco ; Abramzon, Yevgeniya ; Houlden, Henry ; Singleton, Andrew B

Brain, 2012, Vol. 135(9), pp.2875-2882 [Periódico revisado por pares]

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Renton, Alan e ; Majounie, Elisa ; Waite, Adrian ; Simón-Sánchez, Javier ; Rollinson, Sara ; Gibbs, J. raphael ; Schymick, Jennifer c ; Laaksovirta, Hannu ; Van swieten, John c ; Myllykangas, Liisa ; Kalimo, Hannu ; Paetau, Anders ; Abramzon, Yevgeniya The italsgen Consortium (Corporate Author)

Neuron, 20 October 2011, Vol.72(2), pp.257-268 [Periódico revisado por pares]

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ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies

Blauwendraat, Cornelis ; Nalls, Mike A. ; Federoff, Monica ; Pletnikova, Olga ; Ding, Jinhui ; Letson, Christopher ; Geiger, Joshua T. ; Gibbs, J. Raphael ; Hernandez, Dena G. ; Troncoso, Juan C. ; Simón‐Sánchez, Javier ; Scholz, Sonja W.

Movement Disorders, February 2017, Vol.32(2), pp.298-299 [Periódico revisado por pares]

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Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts

Simón-Sánchez, Javier ; Heutink, Peter ; Gasser, Thomas International Parkinson'S Disease Genomics Consortium (Ipdgc) (Corporate Author)

Neurobiology of Aging, October 2015, Vol.36(10), pp.2907.e13-2907.e17 [Periódico revisado por pares]

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LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain

Simón-Sánchez, Javier ; Herranz-Pérez, Vicente ; Olucha-Bordonau, Francisco ; Pérez-Tur, Jordi

The European journal of neuroscience, February 2006, Vol.23(3), pp.659-66 [Periódico revisado por pares]

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Deste Autor:

  1. Simón-Sánchez, Javier
  2. Simon-Sanchez, J
  3. Heutink, Peter
  4. Simon-Sanchez, Javier
  5. Gasser, Thomas

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