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HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.
Published in:
2018
By:
- 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;
- Erginel-Unaltuna, Nihan;
- Hauser, Ann-Kathrin;
- Simón-Sánchez, Javier
Publication type:
journal article
ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies.
Published in:
2017
By:
- 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.;
- Simón-Sánchez, Javier;
- International Parkinson's Disease Genomics Consortium
Publication type:
Letter
Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques.
Published in:
2006
By:
- Simón-Sánchez, Javier;
- Martí-Massó, José-Félix;
- Sánchez-Mut, José Vicente;
- Paisán-Ruiz, Coro;
- Martínez-Gil, Angel;
- Ruiz-Martínez, Javier;
- Sáenz, Amets;
- Singleton, Andrew B.;
- López de Munain, Adolfo;
- Pérez-Tur, Jordi;
- Simón-Sánchez, Javier;
- Martí-Massó, José-Félix;
- Sánchez-Mut, José Vicente;
- Paisán-Ruiz, Coro;
- Martínez-Gil, Angel;
- Ruiz-Martínez, Javier;
- Sáenz, Amets;
- López de Munain, Adolfo;
- Pérez-Tur, Jordi
Publication type:
journal article
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
Published in:
Nature Genetics, 2009, v. 41, n. 12, p. 1308, doi. 10.1038/ng.487
By:
- Simón-Sánchez, Javier;
- Schulte, Claudia;
- Bras, Jose M.;
- Sharma, Manu;
- Gibbs, J. Raphael;
- Berg, Daniela;
- Paisan-Ruiz, Coro;
- Lichtner, Peter;
- Scholz, Sonja W.;
- Hernandez, Dena G.;
- Krüger, Rejko;
- Federoff, Monica;
- Klein, Christine;
- Goate, Alison;
- Perlmutter, Joel;
- Bonin, Michael;
- Nalls, Michael A.;
- Illig, Thomas;
- Gieger, Christian;
- Houlden, Henry
Publication type:
Article
C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.
Published in:
Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0306-7
By:
- Rizzu, Patrizia;
- Blauwendraat†, Cornelis;
- Heetveld, Sasja;
- Lynes, Emily M.;
- Castillo-Lizardo, Melissa;
- Dhingra, Ashutosh;
- Pyz, Elwira;
- Hobert, Markus;
- Synofzik, Matthis;
- Simón-Sánchez, Javier;
- Francescatto, Margherita;
- Heutink, Peter
Publication type:
Article
Fine-Mapping, Gene Expression and Splicing Analysis of the Disease Associated <i>LRRK2</i> Locus.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070724
By:
- Trabzuni, Daniah;
- Ryten, Mina;
- Emmett, Warren;
- Ramasamy, Adaikalavan;
- Lackner, Karl J.;
- Zeller, Tanja;
- Walker, Robert;
- Smith, Colin;
- Lewis, Patrick A.;
- Mamais, Adamantios;
- de Silva, Rohan;
- Vandrovcova, Jana;
- Hernandez, Dena;
- Nalls, Michael A.;
- Sharma, Manu;
- Garnier, Sophie;
- Lesage, Suzanne;
- Simon-Sanchez, Javier;
- Gasser, Thomas;
- Heutink, Peter
Publication type:
Article
Cooperative Genome-Wide Analysis Shows Increased Homozygosity in Early Onset Parkinson's Disease.
Published in:
PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0028787
By:
- 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.
Publication type:
Article
Variation at GRN 3'-UTR rs5848 Is Not Associated with a Risk of Frontotemporal Lobar Degeneration in Dutch Population.
Published in:
PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007494
By:
- Simón-Sánchez, Javier;
- Seelaar, Harro;
- Bochdanovits, Zoltán;
- Deeg, Dorly J. H.;
- van Swieten, John C.;
- Heutink, Peter
Publication type:
Article
Accurate prediction of a minimal region around a genetic association signal that contains the causal variant.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 2, p. 238, doi. 10.1038/ejhg.2013.115
By:
- Bochdanovits, Zoltán;
- Simón-Sánchez, Javier;
- Jonker, Marianne;
- Hoogendijk, Witte J;
- van der Vaart, Aad;
- Heutink, Peter
Publication type:
Article
Genome-wide association study confirms extant PD risk loci among the Dutch.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 6, p. 655, doi. 10.1038/ejhg.2010.254
By:
- Simón-Sánchez, Javier;
- van Hilten, Jacobus J.;
- van de Warrenburg, Bart;
- Post, Bart;
- Berendse, Henk W.;
- Arepalli, Sampath;
- Hernandez, Dena G.;
- de Bie, Rob M. A.;
- Velseboer, Daan;
- Scheffer, Hans;
- Bloem, Bas;
- van Dijk, Karin D.;
- Rivadeneira, Fernando;
- Hofman, Albert;
- Uitterlinden, André G.;
- Rizzu, Patrizia;
- Bochdanovits, Zoltan;
- Singleton, Andrew B.;
- Heutink, Peter
Publication type:
Article
Profiling transcription initiation in human aged brain using deep-CAGE.
Published in:
2011
By:
- Francescatto, Margherita;
- Pardo, Luba;
- Rizzu, Patrizia;
- Vitezic, Morana;
- Simón-Sánchez, Javier;
- Takahashi, Hazuki;
- Daub, Carsten;
- Carninci, Piero;
- Heutink, Peter
Publication type:
Abstract
Genotype, haplotype and copy-number variation in worldwide human populations.
Published in:
Nature, 2008, v. 451, n. 7181, p. 998, doi. 10.1038/nature06742
By:
- Jakobsson, Mattias;
- Scholz, Sonja W.;
- Scheet, Paul;
- Gibbs, J. Raphael;
- VanLiere, Jenna M.;
- Fung, Hon-Chung;
- Szpiech, Zachary A.;
- Degnan, James H.;
- Wang, Kai;
- Guerreiro, Rita;
- Bras, Jose M.;
- Schymick, Jennifer C.;
- Hernandez, Dena G.;
- Traynor, Bryan J.;
- Simon-Sanchez, Javier;
- Matarin, Mar;
- Britton, Angela;
- van de Leemput, Joyce;
- Rafferty, Ian;
- Bucan, Maja
Publication type:
Article
Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk.
Published in:
JAMA Neurology, 2013, v. 70, n. 10, p. 1268, doi. 10.1001/jamaneurol.2013.448
By:
- Moskvina, Valentina;
- Harold, Denise;
- Russo, GianCarlo;
- Vedernikov, Alexey;
- Sharma, Manu;
- Saad, Mohamad;
- Holmans, Peter;
- Bras, Jose M.;
- Bettella, Francesco;
- Keller, Margaux F.;
- Nicolaou, Nayia;
- Simón-Sánchez, Javier;
- Gibbs, J. Raphael;
- Schulte, Claudia;
- Durr, Alexandra;
- Guerreiro, Rita;
- Hernandez, Dena;
- Brice, Alexis;
- Stefánsson, Hreinn;
- Majamaa, Kari
Publication type:
Article
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2875, doi. 10.1093/brain/aws161
By:
- 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.
Publication type:
Article
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 3, p. 723
By:
- Simón-Sánchez, Javier;
- Dopper, Elise G. P.;
- Cohn-Hokke, Petra E.;
- Hukema, Renate K.;
- Nicolaou, Nayia;
- Seelaar, Harro;
- de Graaf, J. Roos A.;
- de Koning, Inge;
- van Schoor, Natasja M.;
- Deeg, Dorly J. H.;
- Smits, Marion;
- Raaphorst, Joost;
- van den Berg, Leonard H.;
- Schelhaas, Helenius J.;
- De Die-Smulders, Christine E. M.;
- Majoor-Krakauer, Danielle;
- Rozemuller, Annemieke J. M.;
- Willemsen, Rob;
- Pijnenburg, Yolande A. L.;
- Heutink, Peter
Publication type:
Article
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Published in:
2021
By:
- Mencacci, Niccolò E.;
- Brockmann, Marisa M.;
- Jinye Dai;
- Pajusalu, Sander;
- Atasu, Burcu;
- Campos, Joaquin;
- Pino, Gabriela;
- Gonzalez-Latapi, Paulina;
- Patzke, Christopher;
- Schwake, Michael;
- Tucci, Arianna;
- Pittman, Alan;
- Simon-Sanchez, Javier;
- Carvill, Gemma L.;
- Balint, Bettina;
- Wiethoff, Sarah;
- Warner, Thomas T.;
- Papandreou, Apostolos;
- Ker Shin Soo, Audrey;
- Rein, Reet
Publication type:
journal article
SNCA variants are associated with increased risk for multiple system atrophy.
Published in:
Annals of Neurology, 2009, v. 65, n. 5, p. 610, doi. 10.1002/ana.21685
By:
- Scholz, Sonja W.;
- Houlden, Henry;
- Schulte, Claudia;
- Sharma, Manu;
- Li, Abi;
- Berg, Daniela;
- Melchers, Anna;
- Paudel, Reema;
- Gibbs, J. Raphael;
- Simon-Sanchez, Javier;
- Paisan-Ruiz, Coro;
- Bras, Jose;
- Ding, Jinhui;
- Chen, Honglei;
- Traynor, Bryan J.;
- Arepalli, Sampath;
- Zonozi, Ryan R.;
- Revesz, Tamas;
- Holton, Janice;
- Wood, Nick
Publication type:
Article
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 562
By:
- Holmans, Peter;
- Moskvina, Valentina;
- Jones, Lesley;
- Sharma, Manu;
- Vedernikov, Alexey;
- Buchel, Finja;
- Saad, Mohamad;
- Bras, Jose M.;
- Bettella, Francesco;
- Nicolaou, Nayia;
- Simón-Sánchez, Javier;
- Mittag, Florian;
- Gibbs, J. Raphael;
- Schulte, Claudia;
- Durr, Alexandra;
- Guerreiro, Rita;
- Hernandez, Dena;
- Brice, Alexis;
- Stefánsson, Hreinn;
- Majamaa, Kari
Publication type:
Article
Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 14, p. 2973
By:
- Keller, Margaux F.;
- Saad, Mohamad;
- Bras, Jose;
- Bettella, Francesco;
- Nicolaou, Nayia;
- Simón-Sánchez, Javier;
- Mittag, Florian;
- chel, Finja Bü;
- Sharma, Manu;
- Gibbs, J. Raphael;
- Schulte, Claudia;
- Moskvina, Valentina;
- Durr, Alexandra;
- Holmans, Peter;
- Kilarski, Laura L.;
- Guerreiro, Rita;
- Hernandez, Dena G.;
- Brice, Alexis;
- Ylikotila, Pauli;
- Stefánsson, Hreinn
Publication type:
Article
Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 8, p. 1696
By:
- Keller, Margaux F.;
- Saad, Mohamad;
- Bras, Jose;
- Bettella, Francesco;
- Nicolaou, Nayia;
- Simón-Sánchez, Javier;
- Mittag, Florian;
- Büchel, Finja;
- Sharma, Manu;
- Gibbs, J. Raphael;
- Schulte, Claudia;
- Moskvina, Valentina;
- Durr, Alexandra;
- Holmans, Peter;
- Kilarski, Laura L.;
- Guerreiro, Rita;
- Hernandez, Dena G.;
- Brice, Alexis;
- Ylikotila, Pauli;
- Stefánsson, Hreinn
Publication type:
Article
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 5, p. 1039
By:
- Holmans, Peter;
- Moskvina, Valentina;
- Jones, Lesley;
- Sharma, Manu;
- Vedernikov, Alexey;
- Buchel, Finja;
- Sadd, Mohamad;
- Bras, Jose M.;
- Bettella, Francesco;
- Nicolaou, Nayia;
- Simón-Sánchez, Javier;
- Mittag, Florian;
- Gibbs, J. Raphael;
- Schulte, Claudia;
- Durr, Alexandra;
- Guerreiro, Rita;
- Hernandez, Dena;
- Brice, Alexis;
- Stefánsson, Hreinn;
- Majamaa, Kari
Publication type:
Article
Using genome-wide complex trait analysis to quantify ‘missing heritability’ in Parkinson's disease.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 22, p. 4996
By:
- Keller, Margaux F.;
- Saad, Mohamad;
- Bras, Jose;
- Bettella, Francesco;
- Nicolaou, Nayia;
- Simón-Sánchez, Javier;
- Mittag, Florian;
- Büchel, Finja;
- Sharma, Manu;
- Gibbs, J. Raphael;
- Schulte, Claudia;
- Moskvina, Valentina;
- Durr, Alexandra;
- Holmans, Peter;
- Kilarski, Laura L.;
- Guerreiro, Rita;
- Hernandez, Dena G.;
- Brice, Alexis;
- Ylikotila, Pauli;
- Stefánsson, Hreinn
Publication type:
Article
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci, and α-synuclein mechanisms.
Published in:
2019
By:
- Blauwendraat, Cornelis;
- Heilbron, Karl;
- Vallerga, Costanza L.;
- Bandres‐Ciga, Sara;
- von Coelln, Rainer;
- Pihlstrøm, Lasse;
- Simón‐Sánchez, Javier;
- Schulte, Claudia;
- Sharma, Manu;
- Krohn, Lynne;
- Siitonen, Ari;
- Iwaki, Hirotaka;
- Leonard, Hampton;
- Noyce, Alastair J.;
- Tan, Manuela;
- Gibbs, J. Raphael;
- Hernandez, Dena G.;
- Scholz, Sonja W.;
- Jankovic, Joseph;
- Shulman, Lisa M.
Publication type:
journal article
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
Published in:
2020
By:
- van der Lee, Sven J.;
- Conway, Olivia J.;
- Jansen, Iris;
- Carrasquillo, Minerva M.;
- Kleineidam, Luca;
- van den Akker, Erik;
- Hernández, Isabel;
- van Eijk, Kristel R.;
- Stringa, Najada;
- Chen, Jason A.;
- Zettergren, Anna;
- Andlauer, Till F. M.;
- Diez-Fairen, Monica;
- Simon-Sanchez, Javier;
- Lleó, Alberto;
- Zetterberg, Henrik;
- Nygaard, Marianne;
- Blauwendraat, Cornelis;
- Savage, Jeanne E.;
- Mengel-From, Jonas
Publication type:
Correction Notice
A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
Published in:
Acta Neuropathologica, 2019, v. 138, n. 2, p. 237, doi. 10.1007/s00401-019-02026-8
By:
- van der Lee, Sven J.;
- Conway, Olivia J.;
- Jansen, Iris;
- Carrasquillo, Minerva M.;
- Kleineidam, Luca;
- van den Akker, Erik;
- Hernández, Isabel;
- van Eijk, Kristel R.;
- Stringa, Najada;
- Chen, Jason A.;
- Zettergren, Anna;
- Andlauer, Till F. M.;
- Diez-Fairen, Monica;
- Simon-Sanchez, Javier;
- Lleó, Alberto;
- Zetterberg, Henrik;
- Nygaard, Marianne;
- Blauwendraat, Cornelis;
- Savage, Jeanne E.;
- Mengel-From, Jonas
Publication type:
Article
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Published in:
Acta Neuropathologica, 2019, v. 137, n. 6, p. 879, doi. 10.1007/s00401-019-01962-9
By:
- Pottier, Cyril;
- Perkerson III, Ralph B.;
- Baker, Matt;
- van Blitterswijk, Marka;
- DeJesus-Hernandez, Mariely;
- Murray, Melissa E.;
- Christopher, Elizabeth;
- Vicente, Cristina T.;
- Matchett, Billie;
- Petrucelli, Leonard;
- Dickson, Dennis W.;
- Rademakers, Rosa;
- Bieniek, Kevin F.;
- Ertekin-Taner, Nilufer;
- Rizzu, Patrizia;
- Neumann, Manuela;
- Heutink, Peter;
- Synofzik, Matthis;
- Wilke, Carlo;
- Simon-Sanchez, Javier
Publication type:
Article
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Published in:
Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1147-9
By:
- Jansen, Iris E.;
- Hui Ye;
- Heetveld, Sasja;
- Lechler, Marie C.;
- Michels, Helen;
- Seinstra, Renée I.;
- Lubbe, Steven J.;
- Drouet, Valérie;
- Lesage, Suzanne;
- Majounie, Elisa;
- Gibbs, J. Raphael;
- Nalls, Mike A.;
- Ryten, Mina;
- Botia, Juan A.;
- Vandrovcova, Jana;
- Simon-Sanchez, Javier;
- Castillo-Lizardo, Melissa;
- Rizzu, Patrizia;
- Blauwendraat, Cornelis;
- Chouhan, Amit K.
Publication type:
Article
LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.
Published in:
European Journal of Neuroscience, 2006, v. 23, n. 3, p. 659, doi. 10.1111/j.1460-9568.2006.04616.x
By:
- Simón‐Sánchez, Javier;
- Herranz‐Pérez, Vicente;
- Olucha‐Bordonau, Francisco;
- Pérez‐Tur, Jordi
Publication type:
Article
Measures of Autozygosity in Decline: Globalization, Urbanization, and Its Implications for Medical Genetics.
Published in:
PLoS Genetics, 2009, v. 5, n. 3, p. 1, doi. 10.1371/journal.pgen.1000415
By:
- Nalls, Michael A.;
- Simon-Sanchez, Javier;
- Gibbs, J. Raphael;
- Paisan-Ruiz, Coro;
- Bras, Jose Tomas;
- Tanaka, Toshiko;
- Matarin, Mar;
- Scholz, Sonja;
- Weitz, Charles;
- Harris, Tamara B.;
- Ferrucci, Luigi;
- Hardy, John;
- Singleton, Andrew B.
Publication type:
Article
A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs).
Published in:
PLoS Genetics, 2008, v. 4, n. 5, p. 1, doi. 10.1371/journal.pgen.1000072
By:
- Melzer, David;
- Perry, John R. B.;
- Hernandez, Dena;
- Corsi, Anna-Maria;
- Stevens, Kara;
- Rafferty, Ian;
- Lauretani, Fulvio;
- Murray, Anna;
- Gibbs, J. Raphael;
- Paolisso, Giuseppe;
- Rafiq, Sajjad;
- Simon-Sanchez, Javier;
- Lango, Hana;
- Scholz, Sonja;
- Weedon, Michael N.;
- Arepalli, Sampath;
- Rice, Neil;
- Washecka, Nicole;
- Hurst, Alison;
- Britton, Angela
Publication type:
Article
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans.
Published in:
PLoS Genetics, 2007, v. 3, n. 6, p. e108, doi. 10.1371/journal.pgen.0030108
By:
- Van de Leemput, Joyce;
- Chandran, Jayanth;
- Knight, Melanie A.;
- Holtzclaw, Lynne A.;
- Scholz, Sonja;
- Cookson, Mark R.;
- Houlden, Henry;
- Gwinn-Hardy, Katrina;
- Hon-Chung Fung;
- Xian Lin;
- Hernandez, Dena;
- Simon-Sanchez, Javier;
- Wood, Nick W.;
- Giunti, Paola;
- Rafferty, Ian;
- Hardy, John;
- Storey, Elsdon;
- Gardner, R. J. McKinlay;
- Forrest, Susan M.;
- Fisher, Elizabeth M. C.
Publication type:
Article
Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities.
Published in:
Human Mutation, 2012, v. 33, n. 12, p. 1708, doi. 10.1002/humu.22161
By:
- Mittag, Florian;
- Büchel, Finja;
- Saad, Mohamad;
- Jahn, Andreas;
- Schulte, Claudia;
- Bochdanovits, Zoltan;
- Simón-Sánchez, Javier;
- Nalls, Mike A.;
- Keller, Margaux;
- Hernandez, Dena G.;
- Gibbs, J. Raphael;
- Lesage, Suzanne;
- Brice, Alexis;
- Heutink, Peter;
- Martinez, Maria;
- Wood, Nicholas W;
- Hardy, John;
- Singleton, Andrew B.;
- Zell, Andreas;
- Gasser, Thomas
Publication type:
Article
Genomewide SNP assay reveals mutations underlying Parkinson disease.
Published in:
Human Mutation, 2008, v. 29, n. 2, p. 315, doi. 10.1002/humu.20626
By:
- Simon-Sanchez, Javier;
- Scholz, Sonja;
- del Mar Matarin, Maria;
- Fung, Hon-Chung;
- Hernandez, Dena;
- Gibbs, J Raphael;
- Britton, Angela;
- Hardy, John;
- Singleton, Andrew
Publication type:
Article
Lack of replication of association between GIGYF2 variants and Parkinson disease.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 2, p. 341
By:
- Bras, Jose;
- Simón-Sánchez, Javier;
- Federoff, Monica;
- Morgadinho, Ana;
- Januario, Cristina;
- Ribeiro, Maria;
- Cunha, Luis;
- Oliveira, Catarina;
- Singleton, Andrew B.
Publication type:
Article
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.
Published in:
Human Molecular Genetics, 2008, v. 17, n. 13, p. 1988, doi. 10.1093/hmg/ddn096
By:
- Simón-Sánchez, Javier;
- Singleton, Andrew B.
Publication type:
Article
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.
Published in:
Human Molecular Genetics, 2007, v. 16, n. 1, p. 1, doi. 10.1093/hmg/ddl436
By:
- Simon-Sanchez, Javier;
- Scholz, Sonja;
- Fung, Hon-Chung;
- Matarin, Mar;
- Hernandez, Dena;
- Gibbs, J. Raphael;
- Britton, Angela;
- de Vrieze, Fabienne Wavrant;
- Peckham, Elizabeth;
- Gwinn-Hardy, Katrina;
- Crawley, Anthony;
- Keen, Judith C.;
- Nash, Josefina;
- Borgaonkar, Digamber;
- Hardy, John;
- Singleton, Andrew
Publication type:
Article
Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0320-1
By:
- Blauwendraat, Cornelis;
- Francescatto, Margherita;
- Gibbs, J. Raphael;
- Jansen, Iris E.;
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- Hernandez, Dena G.;
- Dillman, Allissa A.;
- Singleton, Andrew B.;
- Cookson, Mark R.;
- Rizzu, Patrizia;
- Heutink, Peter
Publication type:
Article
Structural genomic variation in ischemic stroke.
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Neurogenetics, 2008, v. 9, n. 2, p. 101, doi. 10.1007/s10048-008-0119-3
By:
- Matarin, Mar;
- Simon-Sanchez, Javier;
- Fung, Hon-Chung;
- Scholz, Sonja;
- Gibbs, J.;
- Hernandez, Dena;
- Crews, Cynthia;
- Britton, Angela;
- Wavrant De Vrieze, Fabienne;
- Brott, Thomas;
- Brown, Robert;
- Worrall, Bradford;
- Silliman, Scott;
- Case, L.;
- Hardy, John;
- Rich, Stephen;
- Meschia, James;
- Singleton, Andrew
Publication type:
Article
Assessment of the impact of a personalised nutrition intervention in impaired glucose regulation over 26 weeks: a randomised controlled trial.
Published in:
Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-55105-6
By:
- Karvela, Maria;
- Golden, Caroline T.;
- Bell, Nikeysha;
- Martin-Li, Stephanie;
- Bedzo-Nutakor, Judith;
- Bosnic, Natalie;
- DeBeaudrap, Pierre;
- de Mateo-Lopez, Sara;
- Alajrami, Ahmed;
- Qin, Yun;
- Eze, Maria;
- Hon, Tsz-Kin;
- Simón-Sánchez, Javier;
- Sahoo, Rashmita;
- Pearson-Stuttard, Jonathan;
- Soon-Shiong, Patrick;
- Toumazou, Christofer;
- Oliver, Nick
Publication type:
Article

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