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Your search keyword '"Ophoff, Roel A."' showing total 15 results
Start Over Author "Ophoff, Roel A." Journal human molecular genetics
15 results on '"Ophoff, Roel A."'

1. Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis

Author

Kuiper, Jonas JW, van Setten, Jessica, Devall, Matthew, Cretu-Stancu, Mircea, Hiddingh, Sanne, Ophoff, Roel A, Missotten, Tom OAR, van Velthoven, Mirjam, Hollander, Anneke I Den, Hoyng, Carel B, James, Edward, Reeves, Emma, Cordero-Coma, Miguel, Fonollosa, Alejandro, Adán, Alfredo, Martín, Javier, Koeleman, Bobby PC, de Boer, Joke H, Pulit, Sara L, Márquez, Ana, and Radstake, Timothy RDJ

Subjects
Genetics, 2.1 Biological and endogenous factors, Aetiology, Aminopeptidases, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, HLA-A Antigens, Haplotypes, Humans, Male, Minor Histocompatibility Antigens, Minor Histocompatibility Loci, Polymorphism, Single Nucleotide, Uveitis, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Birdshot Uveitis (Birdshot) is a rare eye condition that affects HLA-A29-positive individuals and could be considered a prototypic member of the recently proposed 'MHC-I (major histocompatibility complex class I)-opathy' family. Genetic studies have pinpointed the endoplasmic reticulum aminopeptidase (ERAP1) and (ERAP2) genes as shared associations across MHC-I-opathies, which suggests ERAP dysfunction may be a root cause for MHC-I-opathies. We mapped the ERAP1 and ERAP2 haplotypes in 84 Dutch cases and 890 controls. We identified association at variant rs10044354, which mediated a marked increase in ERAP2 expression. We also identified and cloned an independently associated ERAP1 haplotype (tagged by rs2287987) present in more than half of the cases; this ERAP1 haplotype is also the primary risk and protective haplotype for other MHC-I-opathies. We show that the risk ERAP1 haplotype conferred significantly altered expression of ERAP1 isoforms in transcriptomic data (n = 360), resulting in lowered protein expression and distinct enzymatic activity. Both the association for rs10044354 (meta-analysis: odds ratio (OR) [95% CI]=2.07[1.58-2.71], P = 1.24 × 10(-7)) and rs2287987 (OR[95% CI]: =2.01[1.51-2.67], P = 1.41 × 10(-6)) replicated and showed consistent direction of effect in an independent Spanish cohort of 46 cases and 2103 controls. In both cohorts, the combined rs2287987-rs10044354 haplotype associated with Birdshot more strongly than either variant alone [meta-analysis: P=3.9 × 10(-9)]. Finally, we observed that ERAP2 protein expression is dependent on the ERAP1 background across three European populations (n = 3353). In conclusion, a functionally distinct combination of ERAP1 and ERAP2 are a hallmark of Birdshot and provide rationale for strategies designed to correct ERAP function for treatment of Birdshot and MHC-I-opathies more broadly.

Published
2018

2. Double hits in schizophrenia.

Author

Vorstman, Jacob AS, Olde Loohuis, Loes M, Kahn, René S, Ophoff, Roel A, Alizadeh, Behrooz Z, Bartels-Velthuis, Agna A, van Beveren, Nico J, Bruggeman, Richard, Cahn, Wiepke, de Haan, Lieuwe, Delespaul, Philippe, Meijer, Carin J, Myin-Germeys, Inez, Schirmbeck, Frederike, Simons, Claudia JP, van Haren, Neeltje E, van Os, Jim, van Winkel, Ruud, van Baaren, Joyce, Veermans, Erwin, Driessen, Ger, Driesen, Truda, Pos, Karin, van ’t Hag, Erna, de Nijs, Jessica, Islam, Atiqul, Beuken, Wendy, and Op ’t Eijnde, Debora

Subjects
Human Genome, Genetics, Mental Health, Brain Disorders, Schizophrenia, Aetiology, 2.1 Biological and endogenous factors, Mental health, Case-Control Studies, DNA Copy Number Variations, Female, Humans, Male, Phenotype, Point Mutation, Polymorphism, Single Nucleotide, Sequence Deletion, GROUP Investigators, GROUP investigators, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

The co-occurrence of a copy number variant (CNV) and a functional variant on the other allele may be a relevant genetic mechanism in schizophrenia. We hypothesized that the cumulative burden of such double hits-in particular those composed of a deletion and a coding single-nucleotide variation (SNV)-is increased in patients with schizophrenia. We combined CNV data with coding variants data in 795 patients with schizophrenia and 474 controls. To limit false CNV-detection, only CNVs called by two algorithms were included. CNV-affected genes were subsequently examined for coding SNVs, which we termed "CNV-SNVs." Correcting for total queried sequence, we assessed the CNV-SNV-burden and the combined predicted deleterious effect. We estimated P-values by permutation of the phenotype. We detected 105 CNV-SNVs; 67 in duplicated and 38 in deleted genic sequence. Although the difference in CNV-SNVs rates was not significant, the combined deleteriousness inferred by CNV-SNVs in deleted sequence was almost 4-fold higher in cases compared with controls (nominal P = 0.009). This effect may be driven by a higher number of CNV-SNVs and/or by a higher degree of predicted deleteriousness of CNV-SNVs. No such effect was observed for duplications. We provide early evidence that deletions co-occurring with a functional variant may be relevant, albeit of modest impact, for the genetic etiology of schizophrenia. Large-scale consortium studies are required to validate our findings. Sequence-based analyses would provide the best resolution for detection of CNVs as well as coding variants genome-wide.

Published
2018

3. A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy

Author

Kuiper, Jonas JW, Van Setten, Jessica, Ripke, Stephan, Van ‘T Slot, Ruben, Mulder, Flip, Missotten, Tom, Baarsma, G Seerp, Francioli, Laurent C, Pulit, Sara L, De Kovel, Carolien GF, Loon, Ninette Ten Dam-Van, Hollander, Anneke I Den, Veld, Paulien Huis in het, Hoyng, Carel B, Cordero-Coma, Miguel, Martín, Javier, Llorenç, Victor, Arya, Bharti, Thomas, Dhanes, Bakker, Steven C, Ophoff, Roel A, Rothova, Aniki, De Bakker, Paul IW, Mutis, Tuna, and Koeleman, Bobby PC

Subjects
Genetics, Prevention, Clinical Research, Autoimmune Disease, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Alleles, Aminopeptidases, Birdshot Chorioretinopathy, Case-Control Studies, Chorioretinitis, Female, Genome-Wide Association Study, HLA-A Antigens, Haplotypes, Humans, Male, Whites, White People, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Birdshot chorioretinopathy (BSCR) is a rare form of autoimmune uveitis that can lead to severe visual impairment. Intriguingly, >95% of cases carry the HLA-A29 allele, which defines the strongest documented HLA association for a human disease. We have conducted a genome-wide association study in 96 Dutch and 27 Spanish cases, and 398 unrelated Dutch and 380 Spanish controls. Fine-mapping the primary MHC association through high-resolution imputation at classical HLA loci, identified HLA-A*29:02 as the principal MHC association (odds ratio (OR) = 157.5, 95% CI 91.6-272.6, P = 6.6 × 10(-74)). We also identified two novel susceptibility loci at 5q15 near ERAP2 (rs7705093; OR = 2.3, 95% CI 1.7-3.1, for the T allele, P = 8.6 × 10(-8)) and at 14q32.31 in the TECPR2 gene (rs150571175; OR = 6.1, 95% CI 3.2-11.7, for the A allele, P = 3.2 × 10(-8)). The association near ERAP2 was confirmed in an independent British case-control samples (combined meta-analysis P = 1.7 × 10(-9)). Functional analyses revealed that the risk allele of the polymorphism near ERAP2 is strongly associated with high mRNA and protein expression of ERAP2 in B cells. This study further defined an extremely strong MHC risk component in BSCR, and detected evidence for a novel disease mechanism that affects peptide processing in the endoplasmic reticulum.

Published
2014

4. Seasonal changes in gene expression represent cell-type composition in whole blood

Author

De Jong, Simone, Neeleman, Marjolein, Luykx, Jurjen J, Berg, Maarten J Ten, Strengman, Eric, Breeijen, Hanneke H Den, Stijvers, Leon C, Buizer-Voskamp, Jacobine E, Bakker, Steven C, Kahn, René S, Horvath, Steve, Van Solinge, Wouter W, and Ophoff, Roel A

Subjects
Genetics, Aetiology, 2.1 Biological and endogenous factors, Adult, Blood Proteins, Female, Humans, Longitudinal Studies, Male, Periodicity, Reticulocyte Count, Seasons, Transcriptome, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Seasonal patterns in behavior and biological parameters are widespread. Here, we examined seasonal changes in whole blood gene expression profiles of 233 healthy subjects. Using weighted gene co-expression network analysis, we identified three co-expression modules showing circannual patterns. Enrichment analysis suggested that this signal stems primarily from red blood cells and blood platelets. Indeed, a large clinical database with 51 142 observations of blood cell counts over 3 years confirmed a corresponding seasonal pattern of counts of red blood cells, reticulocytes and platelets. We found no direct evidence that these changes are linked to genes known to be key players in regulating immune function or circadian rhythm. It is likely, however, that these seasonal changes in cell counts and gene expression profiles in whole blood represent biological and clinical relevant phenomena. Moreover, our findings highlight possible confounding factors relevant to the study of gene expression profiles in subjects collected at geographical locations with disparaging seasonality patterns.

Published
2014

5. No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

Author

Goris, An, van Setten, Jessica, Diekstra, Frank, Ripke, Stephan, Patsopoulos, Nikolaos A, Sawcer, Stephen J, van Es, Michael, Andersen, Peter M, Melki, Judith, Meininger, Vincent, Hardiman, Orla, Landers, John E, Brown, Robert H, Shatunov, Aleksey, Leigh, Nigel, Al-Chalabi, Ammar, Shaw, Christopher E, Traynor, Bryan J, Chiò, Adriano, Restagno, Gabriella, Mora, Gabriele, Ophoff, Roel A, Oksenberg, Jorge R, Van Damme, Philip, Compston, Alastair, Robberecht, Wim, Dubois, Bénédicte, van den Berg, Leonard H, De Jager, Philip L, Veldink, Jan H, and de Bakker, Paul IW

Subjects
Human Genome, ALS, Multiple Sclerosis, Rare Diseases, Autoimmune Disease, Neurosciences, Genetics, Neurodegenerative, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Comorbidity, Genetic Predisposition to Disease, Humans, Polymorphism, Single Nucleotide, International Multiple Sclerosis Genetics Consortium, Australia and New Zealand MS Genetics Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Genome-wide association studies have been successful in identifying common variants that influence the susceptibility to complex diseases. From these studies, it has emerged that there is substantial overlap in susceptibility loci between diseases. In line with those findings, we hypothesized that shared genetic pathways may exist between multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS). While both diseases may have inflammatory and neurodegenerative features, epidemiological studies have indicated an increased co-occurrence within individuals and families. To this purpose, we combined genome-wide data from 4088 MS patients, 3762 ALS patients and 12 030 healthy control individuals in whom 5 440 446 single-nucleotide polymorphisms (SNPs) were successfully genotyped or imputed. We tested these SNPs for the excess association shared between MS and ALS and also explored whether polygenic models of SNPs below genome-wide significance could explain some of the observed trait variance between diseases. Genome-wide association meta-analysis of SNPs as well as polygenic analyses fails to provide evidence in favor of an overlap in genetic susceptibility between MS and ALS. Hence, our findings do not support a shared genetic background of common risk variants in MS and ALS.

Published
2014

6. Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

Author

Simpson, Claire L, Lemmens, Robin, Miskiewicz, Katarzyna, Broom, Wendy J, Hansen, Valerie K, van Vught, Paul WJ, Landers, John E, Sapp, Peter, Van Den Bosch, Ludo, Knight, Joanne, Neale, Benjamin M, Turner, Martin R, Veldink, Jan H, Ophoff, Roel A, Tripathi, Vineeta B, Beleza, Ana, Shah, Meera N, Proitsi, Petroula, Van Hoecke, Annelies, Carmeliet, Peter, Horvitz, H Robert, Leigh, P Nigel, Shaw, Christopher E, van den Berg, Leonard H, Sham, Pak C, Powell, John F, Verstreken, Patrik, Brown, Robert H, Robberecht, Wim, and Al-Chalabi, Ammar

Subjects
Rare Diseases, Genetics, Neurodegenerative, Biotechnology, Brain Disorders, Neurosciences, ALS, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Animals, Drosophila, Female, Genetic Predisposition to Disease, Genetic Variation, Histone Acetyltransferases, Humans, Male, Mice, Mice, Transgenic, Middle Aged, Motor Neurons, Mutation, Nerve Tissue Proteins, White People, Zebrafish, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1 and TARDBP accounts for a small percentage of cases, and other genes have shown association in both candidate gene and genome-wide studies, but the genetic causes remain largely unknown. We have performed two independent parallel studies, both implicating the RNA polymerase II component, ELP3, in axonal biology and neuronal degeneration. In the first, an association study of 1884 microsatellite markers, allelic variants of ELP3 were associated with ALS in three human populations comprising 1483 people (P=1.96 x 10(-9)). In the second, an independent mutagenesis screen in Drosophila for genes important in neuronal communication and survival identified two different loss of function mutations, both in ELP3 (R475K and R456K). Furthermore, knock down of ELP3 protein levels using antisense morpholinos in zebrafish embryos resulted in dose-dependent motor axonal abnormalities [Pearson correlation: -0.49, P=1.83 x 10(-12) (start codon morpholino) and -0.46, P=4.05 x 10(-9) (splice-site morpholino), and in humans, risk-associated ELP3 genotypes correlated with reduced brain ELP3 expression (P=0.01). These findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP3 variants in ALS.

Published
2009

7. An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Author

Morris, Derek W., Pearson, Richard D., Cormican, Paul, Kenny, Elaine M., OʼDushlaine, Colm T., Perreault, Louis-Philippe Lemieux, Giannoulatou, Eleni, Tropea, Daniela, Maher, Brion S., Wormley, Brandon, Kelleher, Eric, Fahey, Ciara, Molinos, Ines, Bellini, Stefania, Pirinen, Matti, Strange, Amy, Freeman, Colin, Thiselton, Dawn L., Elves, Rachel L., Regan, Regina, Ennis, Sean, Dinan, Timothy G., McDonald, Colm, Murphy, Kieran C., OʼCallaghan, Eadbhard, Waddington, John L., Walsh, Dermot, OʼDonovan, Michael, Grozeva, Detelina, Craddock, Nick, Stone, Jennifer, Scolnick, Ed, Purcell, Shaun, Sklar, Pamela, Coe, Bradley, Eichler, Evan E., Ophoff, Roel, Buizer, Jacobine, Szatkiewicz, Jin, Hultman, Christina, Sullivan, Patrick, Gurling, Hugh, Mcquillin, Andrew, St Clair, David, Rees, Elliott, Kirov, George, Walters, James, Blackwood, Douglas, Johnstone, Mandy, Donohoe, Gary, OʼNeill, Francis A., Kendler, Kenneth S., Gill, Michael, Riley, Brien P., Spencer, Chris C. A., and Corvin, Aiden

Published
2014
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8. European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene

Author

Rafnar, Thorunn, Vermeulen, Sita H., Sulem, Patrick, Thorleifsson, Gudmar, Aben, Katja K., Witjes, J. Alfred, Grotenhuis, Anne J., Verhaegh, Gerald W., Hulsbergen-van de Kaa, Christina A., Besenbacher, Soren, Gudbjartsson, Daniel, Stacey, Simon N., Gudmundsson, Julius, Johannsdottir, Hrefna, Bjarnason, Hjordis, Zanon, Carlo, Helgadottir, Hafdis, Jonasson, Jon Gunnlaugur, Tryggvadottir, Laufey, Jonsson, Eirikur, Geirsson, Gudmundur, Nikulasson, Sigfus, Petursdottir, Vigdis, Bishop, D. Timothy, Chung-Sak, Sei, Choudhury, Ananya, Elliott, Faye, Barrett, Jennifer H., Knowles, Margaret A., de Verdier, Petra J., Ryk, Charlotta, Lindblom, Annika, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Vineis, Paolo, Polidoro, Silvia, Guarrera, Simonetta, Sacerdote, Carlotta, Panadero, Angeles, Sanz-Velez, José I., Sanchez, Manuel, Valdivia, Gabriel, Garcia-Prats, Maria D., Hengstler, Jan G., Selinski, Silvia, Gerullis, Holger, Ovsiannikov, Daniel, Khezri, Abdolaziz, Aminsharifi, Alireza, Malekzadeh, Mahyar, van den Berg, Leonard H., Ophoff, Roel A., Veldink, Jan H., Zeegers, Maurice P., Kellen, Eliane, Fostinelli, Jacopo, Andreoli, Daniele, Arici, Cecilia, Porru, Stefano, Buntinx, Frank, Ghaderi, Abbas, Golka, Klaus, Mayordomo, José I., Matullo, Giuseppe, Kumar, Rajiv, Steineck, Gunnar, Kiltie, Anne E., Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari, and Kiemeney, Lambertus A.

Published
2011
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9. Common variants at VRK2 and TCF4 conferring risk of schizophrenia

Author

Steinberg, Stacy, de Jong, Simone, Andreassen, Ole A., Werge, Thomas, Børglum, Anders D., Mors, Ole, Mortensen, Preben B., Gustafsson, Omar, Costas, Javier, Pietiläinen, Olli P. H., Demontis, Ditte, Papiol, Sergi, Huttenlocher, Johanna, Mattheisen, Manuel, Breuer, René, Vassos, Evangelos, Giegling, Ina, Fraser, Gillian, Walker, Nicholas, Tuulio-Henriksson, Annamari, Suvisaari, Jaana, Lönnqvist, Jouko, Paunio, Tiina, Agartz, Ingrid, Melle, Ingrid, Djurovic, Srdjan, Strengman, Eric, Jürgens, Gesche, Glenthøj, Birte, Terenius, Lars, Hougaard, David M., Ørntoft, Torben, Wiuf, Carsten, Didriksen, Michael, Hollegaard, Mads V., Nordentoft, Merete, van Winkel, Ruud, Kenis, Gunter, Abramova, Lilia, Kaleda, Vasily, Arrojo, Manuel, Sanjuán, Julio, Arango, Celso, Sperling, Swetlana, Rossner, Moritz, Ribolsi, Michele, Magni, Valentina, Siracusano, Alberto, Christiansen, Claus, Kiemeney, Lambertus A., Veldink, Jan, van den Berg, Leonard, Ingason, Andres, Muglia, Pierandrea, Murray, Robin, Nöthen, Markus M., Sigurdsson, Engilbert, Petursson, Hannes, Thorsteinsdottir, Unnur, Kong, Augustine, Rubino, I. Alex, De Hert, Marc, Réthelyi, János M., Bitter, István, Jönsson, Erik G., Golimbet, Vera, Carracedo, Angel, Ehrenreich, Hannelore, Craddock, Nick, Owen, Michael J., OʼDonovan, Michael C., Ruggeri, Mirella, Tosato, Sarah, Peltonen, Leena, Ophoff, Roel A., Collier, David A., St Clair, David, Rietschel, Marcella, Cichon, Sven, Stefansson, Hreinn, Rujescu, Dan, and Stefansson, Kari

Published
2011
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10. A large genome scan for rare CNVs in amyotrophic lateral sclerosis

Author

Blauw, Hylke M., Al-Chalabi, Ammar, Andersen, Peter M., van Vught, Paul W.J., Diekstra, Frank P., van Es, Michael A., Saris, Christiaan G.J., Groen, Ewout J.N., van Rheenen, Wouter, Koppers, Max, vanʼt Slot, Ruben, Strengman, Eric, Estrada, Karol, Rivadeneira, Fernando, Hofman, Albert, Uitterlinden, Andre G., Kiemeney, Lambertus A., Vermeulen, Sita H.M., Birve, Anna, Waibel, Stefan, Meyer, Thomas, Cronin, Simon, McLaughlin, Russell L., Hardiman, Orla, Sapp, Peter C., Tobin, Martin D., Wain, Louise V., Tomik, Barbara, Slowik, Agnieszka, Lemmens, Robin, Rujescu, Dan, Schulte, Claudia, Gasser, Thomas, Brown, Robert H., Jr, Landers, John E., Robberecht, Wim, Ludolph, Albert C., Ophoff, Roel A., Veldink, Jan H., and van den Berg, Leonard H.

Published
2010
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11. A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia

Author

Ingason, Andrés, Giegling, Ina, Cichon, Sven, Hansen, Thomas, Rasmussen, Henrik B., Nielsen, Jimmi, Jürgens, Gesche, Muglia, Pierandrea, Hartmann, Annette M., Strengman, Eric, Vasilescu, Catalina, Mühleisen, Thomas W., Djurovic, Srdjan, Melle, Ingrid, Lerer, Bernard, Möller, Hans-Jürgen, Francks, Clyde, Pietiläinen, Olli P.H., Lonnqvist, Jouko, Suvisaari, Jaana, Tuulio-Henriksson, Annamari, Walshe, Muriel, Vassos, Evangelos, Di Forti, Marta, Murray, Robin, Bonetto, Chiara, Tosato, Sarah, Cantor, Rita M., Rietschel, Marcella, Craddock, Nick, Owen, Michael J., Peltonen, Leena, Andreassen, Ole A., Nöthen, Markus M., St Clair, David, Ophoff, Roel A., OʼDonovan, Michael C., Collier, David A., Werge, Thomas, and Rujescu, Dan

Published
2010
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12. Disruption of the neurexin 1 gene is associated with schizophrenia

Author

Rujescu, Dan, Ingason, Andres, Cichon, Sven, Pietiläinen, Olli P.H., Barnes, Michael R., Toulopoulou, Timothea, Picchioni, Marco, Vassos, Evangelos, Ettinger, Ulrich, Bramon, Elvira, Murray, Robin, Ruggeri, Mirella, Tosato, Sarah, Bonetto, Chiara, Steinberg, Stacy, Sigurdsson, Engilbert, Sigmundsson, Thordur, Petursson, Hannes, Gylfason, Arnaldur, Olason, Pall I., Hardarsson, Gudmundur, Jonsdottir, Gudrun A., Gustafsson, Omar, Fossdal, Ragnheidur, Giegling, Ina, Möller, Hans-Jürgen, Hartmann, Annette M., Hoffmann, Per, Crombie, Caroline, Fraser, Gillian, Walker, Nicholas, Lonnqvist, Jouko, Suvisaari, Jaana, Tuulio-Henriksson, Annamari, Djurovic, Srdjan, Melle, Ingrid, Andreassen, Ole A., Hansen, Thomas, Werge, Thomas, Kiemeney, Lambertus A., Franke, Barbara, Veltman, Joris, Buizer-Voskamp, Jacobine E., Sabatti, Chiara, Ophoff, Roel A., Rietschel, Marcella, Nöthen, Markus M., Stefansson, Kari, Peltonen, Leena, St Clair, David, Stefansson, Hreinn, and Collier, David A.

Published
2009

14. Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

Author

Simpson, Claire L., primary, Lemmens, Robin, additional, Miskiewicz, Katarzyna, additional, Broom, Wendy J., additional, Hansen, Valerie K., additional, van Vught, Paul W.J., additional, Landers, John E., additional, Sapp, Peter, additional, Van Den Bosch, Ludo, additional, Knight, Joanne, additional, Neale, Benjamin M., additional, Turner, Martin R., additional, Veldink, Jan H., additional, Ophoff, Roel A., additional, Tripathi, Vineeta B., additional, Beleza, Ana, additional, Shah, Meera N., additional, Proitsi, Petroula, additional, Van Hoecke, Annelies, additional, Carmeliet, Peter, additional, Horvitz, H. Robert, additional, Leigh, P. Nigel, additional, Shaw, Christopher E., additional, van den Berg, Leonard H., additional, Sham, Pak C., additional, Powell, John F., additional, Verstreken, Patrik, additional, Brown, Robert H., additional, Robberecht, Wim, additional, and Al-Chalabi, Ammar, additional

Published
2008
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