Search

Your search keyword '"Vilariño-Güell, Carles"' showing total 384 results
Start Over Author "Vilariño-Güell, Carles"
384 results on '"Vilariño-Güell, Carles"'

1. RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses

Author

Gustavsson, Emil K, Follett, Jordan, Trinh, Joanne, Barodia, Sandeep K, Real, Raquel, Liu, Zhiyong, Grant-Peters, Melissa, Fox, Jesse D, Appel-Cresswell, Silke, Stoessl, A Jon, Rajput, Alex, Rajput, Ali H, Auer, Roland, Tilney, Russel, Sturm, Marc, Haack, Tobias B, Lesage, Suzanne, Tesson, Christelle, Brice, Alexis, Vilariño-Güell, Carles, Ryten, Mina, Goldberg, Matthew S, West, Andrew B, Hu, Michele T, Morris, Huw R, Sharma, Manu, Gan-Or, Ziv, Samanci, Bedia, Lis, Pawel, Periñan, Maria Teresa, Amouri, Rim, Ben Sassi, Samia, Hentati, Faycel, Tonelli, Francesca, Alessi, Dario R, and Farrer, Matthew J

Published
2024
Full Text
View/download PDF

2. Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course

Author

Gil-Varea, Elia, Urcelay, Elena, Vilariño-Güell, Carles, Costa, Carme, Midaglia, Luciana, Matesanz, Fuencisla, Rodríguez-Antigüedad, Alfredo, Oksenberg, Jorge, Espino-Paisan, Laura, Dessa Sadovnick, A, Saiz, Albert, Villar, Luisa M, García-Merino, Juan Antonio, Ramió-Torrentà, Lluís, Triviño, Juan Carlos, Quintana, Ester, Robles, René, Sánchez-López, Antonio, Arroyo, Rafael, Alvarez-Cermeño, Jose C, Vidal-Jordana, Angela, Malhotra, Sunny, Fissolo, Nicolas, Montalban, Xavier, and Comabella, Manuel

Subjects
Biomedical and Clinical Sciences, Neurosciences, Immunology, Autoimmune Disease, Human Genome, Multiple Sclerosis, Neurodegenerative, Genetics, Brain Disorders, Clinical Research, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Aetiology, 2.1 Biological and endogenous factors, Neurological, Brain, Carboxypeptidases A, Cohort Studies, Disease Progression, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Immunoglobulins, Male, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, RNA, Messenger, Exome Sequencing, Multiple sclerosis, Disease course, Exome sequencing, Polymorphisms, CPXM2, IGSF9B, NLRP9, Clinical Sciences, Neurology & Neurosurgery
Abstract

BackgroundIt remains unclear whether disease course in multiple sclerosis (MS) is influenced by genetic polymorphisms. Here, we aimed to identify genetic variants associated with benign and aggressive disease courses in MS patients.MethodsMS patients were classified into benign and aggressive phenotypes according to clinical criteria. We performed exome sequencing in a discovery cohort, which included 20 MS patients, 10 with benign and 10 with aggressive disease course, and genotyping in 2 independent validation cohorts. The first validation cohort encompassed 194 MS patients, 107 with benign and 87 with aggressive phenotypes. The second validation cohort comprised 257 patients, of whom 224 patients had benign phenotypes and 33 aggressive disease courses. Brain immunohistochemistries were performed using disease course associated genes antibodies.ResultsBy means of single-nucleotide polymorphism (SNP) detection and comparison of allele frequencies between patients with benign and aggressive phenotypes, a total of 16 SNPs were selected for validation from the exome sequencing data in the discovery cohort. Meta-analysis of genotyping results in two validation cohorts revealed two polymorphisms, rs28469012 and rs10894768, significantly associated with disease course. SNP rs28469012 is located in CPXM2 (carboxypeptidase X, M14 family, member 2) and was associated with aggressive disease course (uncorrected p value

Published
2018

3. Exome-wide rare variant analysis in familial essential tremor

Author

Diez-Fairen, Monica, Houle, Gabrielle, Ortega-Cubero, Sara, Bandres-Ciga, Sara, Alvarez, Ignacio, Carcel, Maria, Ibañez, Laura, Fernandez, Maria Victoria, Budde, John P., Trotta, Jean-Rémi, Tonda, Raúl, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Aguilar, Miquel, Tartari, Juan P., Gironell, Alexandre, García-Martín, Elena, Agundez, Jose AG., Alonso-Navarro, Hortensia, Jimenez-Jimenez, Felix Javier, Fernandez, Manel, Valldeoriola, Francesc, Marti, Maria Jose, Tolosa, Eduard, Coria, Francisco, Pastor, Maria A., Vilariño-Güell, Carles, Rajput, Alex, Dion, Patrick A., Cruchaga, Carlos, Rouleau, Guy A., and Pastor, Pau

Published
2021
Full Text
View/download PDF

7. Analysis of germline mutations induced by chemicals

Author

Vilariño-Güell, Carles, Dubrova, Yuri, and Smith, Andy

Subjects
572
Abstract

The high abundance of chemical pollutants in the environment represents a genetic risk to humans. The development of reliable and sensitive tests for the analysis of the genetic effects of exposure to chemical mutagens is required. Previous work has shown that expanded simple tandem repeat (ESTR) loci provide a sensitive system for monitoring radiation-induced mutation in the mouse germline. Here, the results of the first systematic study on germline mutation induction at mouse ESTR loci by chemical mutagens are presented. Mutation rates at two ESTR loci were studied in the germline of male mice exposed to two monofunctional alkylating agents, ethyl-nitrosourea (ENU) and isopropyl methanesulfonate (iPMS), as well as to the topoisomerase-II inhibitor, etoposide (ET). Pre-meiotic exposure to alkylating agents resulted in a highly significant increase in ESTR mutation rate, but did not alter post-meiotically exposed cells. Pre-meiotic mutation induction by ENU and iPMS was linear within the interval of doses from 12.5 mg/kg to 25 mg/kg and reached a plateau at higher concentrations. Paternal exposure to etoposide resulted in ESTR mutation induction at meiotic stages but did not affect post- or pre-meiotic cells. The pattern of ESTR mutation induction after pre-meiotic and meiotic exposure to chemical mutagens was similar to that previously obtained by various traditional approaches for monitoring germline mutation in mice. Using microarrays, the analysis of the pattern of changes in gene expression in the testis of male mice exposed to ENU was studied. This analysis revealed that exposure to this chemical mutagen does not result in detectable changes in gene expression. The results of this study show that ESTR loci provide a new and efficient biomonitoring system for assessing the genetic effects of chemical mutagens, capable of detecting increases in mutation rates at very low doses and in small sample sizes.

Published
2002

9. TPP2 mutation associated with sterile brain inflammation mimicking MS

Author

Reinthaler, Eva M., Graf, Elisabeth, Zrzavy, Tobias, Wieland, Thomas, Hotzy, Christoph, Kopecky, Chantal, Pferschy, Sandra, Schmied, Christiane, Leutmezer, Fritz, Keilani, Mohammad, Lill, Christina M., Hoffjan, Sabine, Epplen, Jörg T., Zettl, Uwe K., Hecker, Michael, Deutschländer, Angela, Meuth, Sven G., Ahram, Mamoun, Mustafa, Baha, El-Khateeb, Mohammed, Vilariño-Güell, Carles, Sadovnick, A. Dessa, Zimprich, Fritz, Tomkinson, Birgitta, Strom, Tim, Kristoferitsch, Wolfgang, Lassmann, Hans, and Zimprich, Alexander

Published
2018
Full Text
View/download PDF

10. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB) [research center], Fonds National de la Recherche - FnR (ProtectMove, MiRisk) [sponsor], DFG (ProtectMove) [sponsor], BMBF (MitoPD) [sponsor], Trinh, Joanne, Hicks, Andrew A., König, Inke R., Delcambre, Sylvie, Lüth, Theresa, Schaake, Susen, Wasner, Kobi, Ghelfi, Jenny, Borsche, Max, Vilariño-Güell, Carles, Hentati, Faycel, Germer, Elisabeth L., Bauer, Peter, Takanashi, Masashi, Kostić, Vladimir, Lang, Anthony E., Brüggemann, Norbert, Pramstaller, Peter P., Pichler, Irene, Rajput, Alex, Hattori, Nobutaka, Farrer, Matthew J., Lohmann, Katja, Weissensteiner, Hansi, May, Patrick, Klein, Christine, Grünewald, Anne, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB) [research center], Fonds National de la Recherche - FnR (ProtectMove, MiRisk) [sponsor], DFG (ProtectMove) [sponsor], BMBF (MitoPD) [sponsor], Trinh, Joanne, Hicks, Andrew A., König, Inke R., Delcambre, Sylvie, Lüth, Theresa, Schaake, Susen, Wasner, Kobi, Ghelfi, Jenny, Borsche, Max, Vilariño-Güell, Carles, Hentati, Faycel, Germer, Elisabeth L., Bauer, Peter, Takanashi, Masashi, Kostić, Vladimir, Lang, Anthony E., Brüggemann, Norbert, Pramstaller, Peter P., Pichler, Irene, Rajput, Alex, Hattori, Nobutaka, Farrer, Matthew J., Lohmann, Katja, Weissensteiner, Hansi, May, Patrick, Klein, Christine, and Grünewald, Anne

Abstract

Biallelic mutations in PINK1/PRKN cause recessive Parkinson’s disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA (mtDNA) integrity and inflammation as disease modifiers in carriers of mutations in these genes. MtDNA integrity was investigated in a large collection of biallelic (n = 84) and monoallelic (n = 170) carriers of PINK1/PRKN mutations, idiopathic Parkinson’s disease patients (n = 67) and controls (n = 90). In addition, we studied global gene expression and serum cytokine levels in a subset. Affected and unaffected PINK1/PRKN monoallelic mutation carriers can be distinguished by heteroplasmic mtDNA variant load (AUC = 0.83, CI:0.74-0.93). Biallelic PINK1/PRKN mutation carriers harbor more heteroplasmic mtDNA variants in blood (p = 0.0006, Z = 3.63) compared to monoallelic mutation carriers. This enrichment was confirmed in iPSC-derived (controls, n = 3; biallelic PRKN mutation carriers, n = 4) and postmortem (control, n = 1; biallelic PRKN mutation carrier, n = 1) midbrain neurons. Lastly, the heteroplasmic mtDNA variant load correlated with IL6 levels in PINK1/PRKN mutation carriers (r = 0.57, p = 0.0074). PINK1/PRKN mutations predispose individuals to mtDNA variant accumulation in a dose- and disease-dependent manner.

Published
2023

12. A Whole-Genome Sequencing Study Implicates GRAMD1B in Multiple Sclerosis Susceptibility

Author

Esposito, Federica, primary, Osiceanu, Ana Maria, additional, Sorosina, Melissa, additional, Ottoboni, Linda, additional, Bollman, Bryan, additional, Santoro, Silvia, additional, Bettegazzi, Barbara, additional, Zauli, Andrea, additional, Clarelli, Ferdinando, additional, Mascia, Elisabetta, additional, Calabria, Andrea, additional, Zacchetti, Daniele, additional, Capra, Ruggero, additional, Ferrari, Maurizio, additional, Provero, Paolo, additional, Lazarevic, Dejan, additional, Cittaro, Davide, additional, Carrera, Paola, additional, Patsopoulos, Nikolaos, additional, Toniolo, Daniela, additional, Sadovnick, A Dessa, additional, Martino, Gianvito, additional, De Jager, Philip L., additional, Comi, Giancarlo, additional, Stupka, Elia, additional, Vilariño-Güell, Carles, additional, Piccio, Laura, additional, and Martinelli Boneschi, Filippo, additional

Published
2022
Full Text
View/download PDF

13. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

Author

Trinh, Joanne, primary, Hicks, Andrew A, additional, König, Inke R, additional, Delcambre, Sylvie, additional, Lüth, Theresa, additional, Schaake, Susen, additional, Wasner, Kobi, additional, Ghelfi, Jenny, additional, Borsche, Max, additional, Vilariño-Güell, Carles, additional, Hentati, Faycel, additional, Germer, Elisabeth L, additional, Bauer, Peter, additional, Takanashi, Masashi, additional, Kostić, Vladimir, additional, Lang, Anthony E, additional, Brüggemann, Norbert, additional, Pramstaller, Peter P, additional, Pichler, Irene, additional, Rajput, Alex, additional, Hattori, Nobutaka, additional, Farrer, Matthew J, additional, Lohmann, Katja, additional, Weissensteiner, Hansi, additional, May, Patrick, additional, Klein, Christine, additional, and Grünewald, Anne, additional

Published
2022
Full Text
View/download PDF

19. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson's disease.

Author

Trinh, Joanne, Hicks, Andrew A, König, Inke R, Delcambre, Sylvie, Lüth, Theresa, Schaake, Susen, Wasner, Kobi, Ghelfi, Jenny, Borsche, Max, Vilariño-Güell, Carles, Hentati, Faycel, Germer, Elisabeth L, Bauer, Peter, Takanashi, Masashi, Kostić, Vladimir, Lang, Anthony E, Brüggemann, Norbert, Pramstaller, Peter P, Pichler, Irene, and Rajput, Alex

Subjects
MITOCHONDRIAL DNA, PARKINSON'S disease, GENE expression, MELAS syndrome, LEBER'S hereditary optic atrophy
Abstract

Biallelic mutations in PINK1 / PRKN cause recessive Parkinson's disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA integrity and inflammation as disease modifiers in carriers of mutations in these genes. Mitochondrial DNA integrity was investigated in a large collection of biallelic (n = 84) and monoallelic (n = 170) carriers of PINK1 / PRKN mutations, idiopathic Parkinson's disease patients (n = 67) and controls (n = 90). In addition, we studied global gene expression and serum cytokine levels in a subset. Affected and unaffected PINK1 / PRKN monoallelic mutation carriers can be distinguished by heteroplasmic mitochondrial DNA variant load (area under the curve = 0.83, CI 0.74–0.93). Biallelic PINK1 / PRKN mutation carriers harbour more heteroplasmic mitochondrial DNA variants in blood (P = 0.0006, Z = 3.63) compared to monoallelic mutation carriers. This enrichment was confirmed in induced pluripotent stem cell-derived (controls, n = 3; biallelic PRKN mutation carriers, n = 4) and post-mortem (control, n = 1; biallelic PRKN mutation carrier, n = 1) midbrain neurons. Last, the heteroplasmic mitochondrial DNA variant load correlated with IL6 levels in PINK1 / PRKN mutation carriers (r = 0.57, P = 0.0074). PINK1 / PRKN mutations predispose individuals to mitochondrial DNA variant accumulation in a dose- and disease-dependent manner. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

20. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1- and PRKN-linked Parkinson’s disease

Author

Trinh, Joanne, primary, Hicks, Andrew A., additional, König, Inke R., additional, Delcambre, Sylvie, additional, Lüth, Theresa, additional, Schaake, Susen, additional, Wasner, Kobi, additional, Ghelfi, Jenny, additional, Borsche, Max, additional, Vilariño-Güell, Carles, additional, Hentati, Faycel, additional, Germer, Elisabeth L., additional, Bauer, Peter, additional, Takanashi, Masashi, additional, Kostić, Vladimir, additional, Lang, Anthony E., additional, Brüggemann, Norbert, additional, Pramstaller, Peter P., additional, Pichler, Irene, additional, Rajput, Alex, additional, Hattori, Nobutaka, additional, Farrer, Matthew J., additional, Lohmann, Katja, additional, Weissensteiner, Hansi, additional, May, Patrick, additional, Klein, Christine, additional, and Grünewald, Anne, additional

Published
2022
Full Text
View/download PDF

21. Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB) [research center], Fonds National de la Recherche - FnR (ProtectMove, MiRisk) [sponsor], DFG (ProtectMove) [sponsor], BMBF (MitoPD) [sponsor], Trinh, Joanne, Hicks, Andrew A., König, Inke R., Delcambre, Sylvie, Lüth, Theresa, Schaake, Susen, Wasner, Kobi, Ghelfi, Jenny, Borsche, Max, Vilariño-Güell, Carles, Hentati, Faycel, Germer, Elisabeth L., Bauer, Peter, Takanashi, Masashi, Kostić, Vladimir, Lang, Anthony E., Brüggemann, Norbert, Pramstaller, Peter P., Pichler, Irene, Rajput, Alex, Hattori, Nobutaka, Farrer, Matthew J., Lohmann, Katja, Weissensteiner, Hansi, May, Patrick, Klein, Christine, Grünewald, Anne, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB) [research center], Fonds National de la Recherche - FnR (ProtectMove, MiRisk) [sponsor], DFG (ProtectMove) [sponsor], BMBF (MitoPD) [sponsor], Trinh, Joanne, Hicks, Andrew A., König, Inke R., Delcambre, Sylvie, Lüth, Theresa, Schaake, Susen, Wasner, Kobi, Ghelfi, Jenny, Borsche, Max, Vilariño-Güell, Carles, Hentati, Faycel, Germer, Elisabeth L., Bauer, Peter, Takanashi, Masashi, Kostić, Vladimir, Lang, Anthony E., Brüggemann, Norbert, Pramstaller, Peter P., Pichler, Irene, Rajput, Alex, Hattori, Nobutaka, Farrer, Matthew J., Lohmann, Katja, Weissensteiner, Hansi, May, Patrick, Klein, Christine, and Grünewald, Anne

Abstract

Biallelic mutations in PINK1/PRKN cause recessive Parkinson’s disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA (mtDNA) integrity and inflammation as disease modifiers in carriers of mutations in these genes. MtDNA integrity was investigated in a large collection of biallelic (n = 84) and monoallelic (n = 170) carriers of PINK1/PRKN mutations, idiopathic Parkinson’s disease patients (n = 67) and controls (n = 90). In addition, we studied global gene expression and serum cytokine levels in a subset. Affected and unaffected PINK1/PRKN monoallelic mutation carriers can be distinguished by heteroplasmic mtDNA variant load (AUC = 0.83, CI:0.74-0.93). Biallelic PINK1/PRKN mutation carriers harbor more heteroplasmic mtDNA variants in blood (p = 0.0006, Z = 3.63) compared to monoallelic mutation carriers. This enrichment was confirmed in iPSC-derived (controls, n = 3; biallelic PRKN mutation carriers, n = 4) and postmortem (control, n = 1; biallelic PRKN mutation carrier, n = 1) midbrain neurons. Lastly, the heteroplasmic mtDNA variant load correlated with IL6 levels in PINK1/PRKN mutation carriers (r = 0.57, p = 0.0074). PINK1/PRKN mutations predispose individuals to mtDNA variant accumulation in a dose- and disease-dependent manner.

Published
2022

23. Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

Author

Puschmann, Andreas, Fiesel, Fabienne C., Caulfield, Thomas R., Hudec, Roman, Ando, Maya, Truban, Dominika, Hou, Xu, Ogaki, Kotaro, Heckman, Michael G., James, Elle D., Swanberg, Maria, Jimenez-Ferrer, Itzia, Hansson, Oskar, Opala, Grzegorz, Siuda, Joanna, Boczarska-Jedynak, Magdalena, Friedman, Andrzej, Koziorowski, Dariusz, Aasly, Jan O., Lynch, Timothy, Mellick, George D., Mohan, Megha, Silburn, Peter A., Sanotsky, Yanosh, Vilariño-Güell, Carles, Farrer, Matthew J., Chen, Li, Dawson, Valina L., Dawson, Ted M., Wszolek, Zbigniew K., Ross, Owen A., and Springer, Wolfdieter

Published
2017
Full Text
View/download PDF

25. Association of Essential Tremor With Novel Risk Loci

Author

Liao, Calwing, Castonguay, Charles-Etienne, Heilbron, Karl, Vuokila, Veikko, Medeiros, Miranda, Houle, Gabrielle, Akçimen, Fulya, Ross, Jay P., Catoire, Helene, Diez-Fairen, Monica, Kang, Jooeun, Mueller, Stefanie H., Girard, Simon L., Hopfner, Franziska, Lorenz, Delia, Clark, Lorraine N., Soto-Beasley, Alexandra I., Klebe, Stephan, Hallett, Mark, Wszolek, Zbigniew K., Pendziwiat, Manuela, Lorenzo-Betancor, Oswaldo, Seppi, Klaus, Berg, Daniela, Vilariño-Güell, Carles, Postuma, Ronald B., Bernard, Geneviève, Dupré, Nicolas, Jankovic, Joseph, Testa, Claudia M., Ross, Owen A., Arzberger, Thomas, Chouinard, Sylvain, Louis, Elan D., Mandich, Paola, Vitale, Carmine, Barone, Paolo, García-Martín, Elena, Alonso-Navarro, Hortensia, Agúndez, José A. G., Jiménez-Jiménez, Félix Javier, Pastor, Pau, Rajput, Alex, Deuschl, Günther, Kuhlenbaümer, Gregor, Meijer, Inge A., Dion, Patrick A., and Rouleau, Guy A.

Subjects
Research, Online First, Comments, Original Investigation
Abstract

Key Points Question Can common genetic variants associated with essential tremor (ET) be identified? Findings In this genome-wide association study and meta-analysis including genetic data on 483 054 individuals, 5 genome-wide significant loci were associated with risk of ET and common variants were associated with approximately 18% of ET heritability. Meaning Findings of this study may help identify new genes and inform ET biology., This genome-wide association study identifies common variants associated with risk of essential tremor., Importance Essential tremor (ET) is one of the most common movement disorders, affecting 5% of the general population older than 65 years. Common variants are thought to contribute toward susceptibility to ET, but no variants have been robustly identified. Objective To identify common genetic factors associated with risk of ET. Design, Setting, and Participants Case-control genome-wide association study. Inverse-variance meta-analysis was used to combine cohorts. Multicenter samples collected from European populations were collected from January 2010 to September 2019 as part of an ongoing study. Included patients were clinically diagnosed with or reported having ET. Control individuals were not diagnosed with or reported to have ET. Of 485 250 individuals, data for 483 054 passed data quality control and were used. Main Outcomes and Measures Genotypes of common variants associated with risk of ET. Results Of the 483 054 individuals included, there were 7177 with ET (3693 [51.46%] female; mean [SD] age, 62.66 [15.12] years), and 475 877 control individuals (253 785 [53.33%] female; mean [SD] age, 56.40 [17.6] years). Five independent genome-wide significant loci and were identified and were associated with approximately 18% of ET heritability. Functional analyses found significant enrichment in the cerebellar hemisphere, cerebellum, and axonogenesis pathways. Genetic correlation (r), which measures the degree of genetic overlap, revealed significant common variant overlap with Parkinson disease (r, 0.28; P = 2.38 × 10−8) and depression (r, 0.12; P = 9.78 × 10−4). A separate fine-mapping of transcriptome-wide association hits identified genes such as BACE2, LRRN2, DHRS13, and LINC00323 in disease-relevant brain regions, such as the cerebellum. Conclusions and Relevance The results of this genome-wide association study suggest that a portion of ET heritability can be explained by common genetic variation and can help identify new common genetic risk factors for ET.

Published
2022

26. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

Author

Ross, Owen A, Soto-Ortolaza, Alexandra I, Heckman, Michael G, Aasly, Jan O, Abahuni, Nadine, Annesi, Grazia, Bacon, Justin A, Bardien, Soraya, Bozi, Maria, Brice, Alexis, Brighina, Laura, Van Broeckhoven, Christine, Carr, Jonathan, Chartier-Harlin, Marie-Christine, Dardiotis, Efthimios, Dickson, Dennis W, Diehl, Nancy N, Elbaz, Alexis, Ferrarese, Carlo, Ferraris, Alessandro, Fiske, Brian, Gibson, J Mark, Gibson, Rachel, Hadjigeorgiou, Georgios M, Hattori, Nobutaka, Ioannidis, John PA, Jasinska-Myga, Barbara, Jeon, Beom S, Kim, Yun Joong, Klein, Christine, Kruger, Rejko, Kyratzi, Elli, Lesage, Suzanne, Lin, Chin-Hsien, Lynch, Timothy, Maraganore, Demetrius M, Mellick, George D, Mutez, Eugénie, Nilsson, Christer, Opala, Grzegorz, Park, Sung Sup, Puschmann, Andreas, Quattrone, Aldo, Sharma, Manu, Silburn, Peter A, Sohn, Young Ho, Stefanis, Leonidas, Tadic, Vera, Theuns, Jessie, Tomiyama, Hiroyuki, Uitti, Ryan J, Valente, Enza Maria, van de Loo, Simone, Vassilatis, Demetrios K, Vilariño-Güell, Carles, White, Linda R, Wirdefeldt, Karin, Wszolek, Zbigniew K, Wu, Ruey-Meei, and Farrer, Matthew J

Published
2011
Full Text
View/download PDF

27. Glucocerebrosidase mutations in diffuse Lewy body disease

Author

Nishioka, Kenya, Ross, Owen A., Vilariño-Güell, Carles, Cobb, Stephanie A., Kachergus, Jennifer M., Mann, David M.A., Snowden, Julie, Richardson, Anna M.T., Neary, David, Robinson, Christopher A., Rajput, Alex, Papapetropoulos, Spiridon, Mash, Deborah C., Pahwa, Rajesh, Lyons, Kelly E., Wszolek, Zbigniew K., Dickson, Dennis W., and Farrer, Matthew J.

Published
2011
Full Text
View/download PDF

32. A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction

Author

Puschmann, Andreas, Ross, Owen A., Vilariño-Güell, Carles, Lincoln, Sarah J., Kachergus, Jennifer M., Cobb, Stephanie A., Lindquist, Suzanne G., Nielsen, Jørgen E., Wszolek, Zbigniew K., Farrer, Matthew, Widner, Håkan, van Westen, Danielle, Hägerström, Douglas, Markopoulou, Katerina, Chase, Bruce A., Nilsson, Karin, Reimer, Jan, and Nilsson, Christer

Published
2009
Full Text
View/download PDF

34. Dnajc13 Genetic Variants in Parkinsonism

Author

Gustavsson, Emil K., Trinh, Joanne, Guella, Ilaria, Vilariño-Güell, Carles, Appel-Cresswell, Silke, Stoessl, Jon A., Tsui, Joseph K, McKeown, Martin, Rajput, Alex, Rajput, Ali H., Aasly, Jan O., and Farrer, Matthew J.

Published
2015
Full Text
View/download PDF

37. Exome-wide rare variant analysis in familial essential tremor

Author

Diez-Fairen, Monica, Houle, Gabrielle, Ortega-Cubero, Sara, Bandres-Ciga, Sara, Alvarez, Ignacio, Carcel, Maria, Ibañez, Laura, Fernandez, Maria Victoria, Budde, John P, Trotta, Jean-Rémi, Tonda, Raúl, Chong, Jessica X, Bamshad, Michael J, Nickerson, Deborah A, University of Washington Center for Mendelian Genomics (UWCMG), Aguilar, Miquel, Tartari, Juan P, Gironell, Alexandre, García-Martín, Elena, Agundez, Jose Ag, Alonso-Navarro, Hortensia, Jimenez-Jimenez, Felix Javier, Fernandez, Manel, Valldeoriola, Francesc, Marti, Maria Jose, Tolosa, Eduard, Coria, Francisco, Pastor, Maria A, Vilariño-Güell, Carles, Rajput, Alex, Dion, Patrick A, Cruchaga, Carlos, Rouleau, Guy A, and Pastor, Pau

Subjects
0301 basic medicine, Adult, Male, Candidate gene, Movement disorders, Essential Tremor, Disease, Biology, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Matrix Metalloproteinase 10, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Age of Onset, Gene, Exome, Exome sequencing, Aged, Genetics, Genetic risk, Aged, 80 and over, Essential tremor, MMP10, Rare variants, Heritability, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Neurology, WES, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, 030217 neurology & neurosurgery
Abstract

Introduction Essential tremor (ET) is one of the most common movement disorders. Despite its high prevalence and heritability, its genetic etiology remains elusive with only a few susceptibility genes identified and poorly replicated. Our aim was to find novel candidate genes involved in ET predisposition through whole exome sequencing. Methods We studied eight multigenerational families (N = 40 individuals) with an autosomal-dominant inheritance using a comprehensive strategy combining whole exome sequencing followed by case-control association testing of prioritized variants in a separate cohort comprising 521 ET cases and 596 controls. We further performed gene-based burden analyses in an additional dataset comprising 789 ET patients and 770 healthy individuals to investigate whether there was an enrichment of rare deleterious variants within our candidate genes. Results Fifteen variants co-segregated with disease status in at least one of the families, among which rs749875462 in CCDC183, rs535864157 in MMP10 and rs114285050 in GPR151 showed a nominal association with ET. However, we found no significant enrichment of rare variants within these genes in cases compared with controls. Interestingly, MMP10 protein is involved in the inflammatory response to neuronal damage and has been previously associated with other neurological disorders. Conclusions We prioritized a set of promising genes, especially MMP10, for further genetic and functional studies in ET. Our study suggests that rare deleterious coding variants that markedly increase susceptibility to ET are likely to be found in many genes. Future studies are needed to replicate and further infer biological mechanisms and potential disease causality for our identified genes.

Published
2020

38. Genetic variation of Omi/HtrA2 and Parkinson's disease

Author

Ross, Owen A., Soto, Alexandra I., Vilariño-Güell, Carles, Heckman, Michael G., Diehl, Nancy N., Hulihan, Mary M., Aasly, Jan O., Sando, Sigrid, Gibson, J. Mark, Lynch, Timothy, Krygowska-Wajs, Anna, Opala, Grzegorz, Barcikowska, Maria, Czyzewski, Krzysztof, Uitti, Ryan J., Wszolek, Zbigniew K., and Farrer, Matthew J.

Published
2008
Full Text
View/download PDF

39. Dopamine β-hydroxylase −1021C>T association and Parkinson's disease

Author

Ross, Owen A., Heckman, Michael G., Soto, Alexandra I., Diehl, Nancy N., Haugarvoll, Kristoffer, Vilariño-Güell, Carles, Aasly, Jan O., Sando, Sigrid, Gibson, J. Mark, Lynch, Timothy, Krygowska-Wajs, Anna, Opala, Grzegorz, Barcikowska, Maria, Czyzewski, Krzysztof, Uitti, Ryan J., Wszolek, Zbigniew K., and Farrer, Matthew J.

Published
2008
Full Text
View/download PDF

41. DNAJC13 mutations in Parkinson disease

Author

Vilariño-Güell, Carles, Rajput, Alex, Milnerwood, Austen J., Shah, Brinda, Szu-Tu, Chelsea, Trinh, Joanne, Yu, Irene, Encarnacion, Mary, Munsie, Lise N., Tapia, Lucia, Gustavsson, Emil K., Chou, Patrick, Tatarnikov, Igor, Evans, Daniel M., Pishotta, Frederick T., Volta, Mattia, Beccano-Kelly, Dayne, Thompson, Christina, Lin, Michelle K., Sherman, Holly E., Han, Heather J., Guenther, Bruce L., Wasserman, Wyeth W., Bernard, Virginie, Ross, Colin J., Appel-Cresswell, Silke, Stoessl, Jon A., Robinson, Christopher A., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Aasly, Jan O., Wu, Ruey-Meei, Hentati, Faycal, Gibson, Rachel A., McPherson, Peter S., Girard, Martine, Rajput, Michele, Rajput, Ali H., and Farrer, Matthew J.

Published
2014
Full Text
View/download PDF

46. Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinsonʼs disease (GEO-PD) consortium

Author

Heckman, Michael G., Soto-Ortolaza, Alexandra I., Aasly, Jan O., Abahuni, Nadine, Annesi, Grazia, Bacon, Justin A., Bardien, Soraya, Bozi, Maria, Brice, Alexis, Brighina, Laura, Carr, Jonathan, Chartier-Harlin, Marie-Christine, Dardiotis, Efthimios, Dickson, Dennis W., Diehl, Nancy N., Elbaz, Alexis, Ferrarese, Carlo, Fiske, Brian, Gibson, Mark J., Gibson, Rachel, Hadjigeorgiou, Georgios M., Hattori, Nobutaka, Ioannidis, John P.A., Boczarska-Jedynak, Magdalena, Jasinska-Myga, Barbara, Jeon, Beom S., Kim, Yun Joong, Klein, Christine, Kruger, Rejko, Kyratzi, Elli, Lesage, Suzanne, Lin, Chin-Hsien, Lynch, Timothy, Maraganore, Demetrius M., Mellick, George D., Mutez, Eugénie, Nilsson, Christer, Opala, Grzegorz, Park, Sung Sup, Petrucci, Simona, Puschmann, Andreas, Quattrone, Aldo, Sharma, Manu, Silburn, Peter A., Sohn, Young Ho, Stefanis, Leonidas, Tadic, Vera, Theuns, Jessie, Tomiyama, Hiroyuki, Uitti, Ryan J., Valente, Enza Maria, Van Broeckhoven, Christine, van de Loo, Simone, Vassilatis, Demetrios K., Vilariño-Güell, Carles, White, Linda R., Wirdefeldt, Karin, Wszolek, Zbigniew K., Wu, Ruey-Meei, Hentati, Faycal, Farrer, Matthew J., and Ross, Owen A.

Published
2013
Full Text
View/download PDF

47. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

Author

Sharma, Manu, Ioannidis, John P A, Aasly, Jan O, Annesi, Grazia, Brice, Alexis, Bertram, Lars, Bozi, Maria, Barcikowska, Maria, Crosiers, David, Clarke, Carl E, Facheris, Maurizio F, Farrer, Matthew, Garraux, Gaetan, Gispert, Suzana, Auburger, Georg, Vilariño-Güell, Carles, Hadjigeorgiou, Georgios M, Hicks, Andrew A, Hattori, Nobutaka, Jeon, Beom S, Jamrozik, Zygmunt, Krygowska-Wajs, Anna, Lesage, Suzanne, Lill, Christina M, Lin, Juei-Jueng, Lynch, Timothy, Lichtner, Peter, Lang, Anthony E, Libioulle, Cecile, Murata, Miho, Mok, Vincent, Jasinska-Myga, Barbara, Mellick, George D, Morrison, Karen E, Meitnger, Thomas, Zimprich, Alexander, Opala, Grzegorz, Pramstaller, Peter P, Pichler, Irene, Park, Sung Sup, Quattrone, Aldo, Rogaeva, Ekaterina, Ross, Owen A., Stefanis, Leonidas, Stockton, Joanne D, Satake, Wataru, Silburn, Peter A, Strom, Tim M, Theuns, Jessie, Tan, Eng- King, Toda, Tatsushi, Tomiyama, Hiroyuki, Uitti, Ryan J, Van Broeckhoven, Christine, Wirdefeldt, Karin, Wszolek, Zbigniew, Xiromerisiou, Georgia, Yomono, Harumi S, Yueh, Kuo-Chu, Zhao, Yi, Gasser, Thomas, Maraganore, Demetrius, and Krüger, Rejko

Published
2012
Full Text
View/download PDF

49. The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

Author

Heckman, Michael G., Elbaz, Alexis, Soto-Ortolaza, Alexandra I., Serie, Daniel J., Aasly, Jan O., Annesi, Grazia, Auburger, Georg, Bacon, Justin A., Boczarska-Jedynak, Magdalena, Bozi, Maria, Brighina, Laura, Chartier-Harlin, Marie-Christine, Dardiotis, Efthimios, Destée, Alain, Ferrarese, Carlo, Ferraris, Alessandro, Fiske, Brian, Gispert, Suzana, Hadjigeorgiou, Georgios M., Hattori, Nobutaka, Ioannidis, John P.A., Jasinska-Myga, Barbara, Jeon, Beom S., Kim, Yun Joong, Klein, Christine, Kruger, Rejko, Kyratzi, Elli, Lin, Chin-Hsien, Lohmann, Katja, Loriot, Marie-Anne, Lynch, Timothy, Mellick, George D., Mutez, Eugénie, Opala, Grzegorz, Park, Sung Sup, Petrucci, Simona, Quattrone, Aldo, Sharma, Manu, Silburn, Peter A., Sohn, Young Ho, Stefanis, Leonidas, Tadic, Vera, Tomiyama, Hiroyuki, Uitti, Ryan J., Valente, Enza Maria, Vassilatis, Demetrios K., Vilariño-Güell, Carles, White, Linda R., Wirdefeldt, Karin, Wszolek, Zbigniew K., Wu, Ruey-Meei, Xiromerisiou, Georgia, Maraganore, Demetrius M., Farrer, Matthew J., and Ross, Owen A.

Published
2014
Full Text
View/download PDF

50. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Author

Elbaz, Alexis, Ross, Owen A., Ioannidis, John P. A., Soto-Ortolaza, Alexandra I., Moisan, Frédéric, Aasly, Jan, Annesi, Grazia, Bozi, Maria, Brighina, Laura, Chartier-Harlin, Marie-Christine, Destée, Alain, Ferrarese, Carlo, Ferraris, Alessandro, Gibson, Mark J., Gispert, Suzana, Hadjigeorgiou, Georgios M., Jasinska-Myga, Barbara, Klein, Christine, Krüger, Rejko, Lambert, Jean-Charles, Lohmann, Katja, van de Loo, Simone, Loriot, Marie-Anne, Lynch, Timothy, Mellick, George D., Mutez, Eugénie, Nilsson, Christer, Opala, Grzegorz, Puschmann, Andreas, Quattrone, Aldo, Sharma, Manu, Silburn, Peter A., Stefanis, Leonidas, Uitti, Ryan J., Valente, Enza Maria, Vilariño-Güell, Carles, Wirdefeldt, Karin, Wszolek, Zbigniew K., Xiromerisiou, Georgia, Maraganore, Demetrius M., and Farrer, Matthew J.

Published
2011
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results