174 results on '"Rouleau, G.A."'
Search Results
2. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures
- Author
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Mahmud, A.A., Nahid, N.A., Nassif, C., Sayeed, M.S.B., Ahmed, M.U., Parveen, M., Khalil, M.I., Islam, M.M., Nahar, Z., Rypens, F., Hamdan, F.F., Rouleau, G.A., Hasnat, A., and Michaud, J.L.
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- 2017
- Full Text
- View/download PDF
3. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
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Mullins, N. Forstner, A.J. O’Connell, K.S. Coombes, B. Coleman, J.R.I. Qiao, Z. Als, T.D. Bigdeli, T.B. Børte, S. Bryois, J. Charney, A.W. Drange, O.K. Gandal, M.J. Hagenaars, S.P. Ikeda, M. Kamitaki, N. Kim, M. Krebs, K. Panagiotaropoulou, G. Schilder, B.M. Sloofman, L.G. Steinberg, S. Trubetskoy, V. Winsvold, B.S. Won, H.-H. Abramova, L. Adorjan, K. Agerbo, E. Al Eissa, M. Albani, D. Alliey-Rodriguez, N. Anjorin, A. Antilla, V. Antoniou, A. Awasthi, S. Baek, J.H. Bækvad-Hansen, M. Bass, N. Bauer, M. Beins, E.C. Bergen, S.E. Birner, A. Bøcker Pedersen, C. Bøen, E. Boks, M.P. Bosch, R. Brum, M. Brumpton, B.M. Brunkhorst-Kanaan, N. Budde, M. Bybjerg-Grauholm, J. Byerley, W. Cairns, M. Casas, M. Cervantes, P. Clarke, T.-K. Cruceanu, C. Cuellar-Barboza, A. Cunningham, J. Curtis, D. Czerski, P.M. Dale, A.M. Dalkner, N. David, F.S. Degenhardt, F. Djurovic, S. Dobbyn, A.L. Douzenis, A. Elvsåshagen, T. Escott-Price, V. Ferrier, I.N. Fiorentino, A. Foroud, T.M. Forty, L. Frank, J. Frei, O. Freimer, N.B. Frisén, L. Gade, K. Garnham, J. Gelernter, J. Giørtz Pedersen, M. Gizer, I.R. Gordon, S.D. Gordon-Smith, K. Greenwood, T.A. Grove, J. Guzman-Parra, J. Ha, K. Haraldsson, M. Hautzinger, M. Heilbronner, U. Hellgren, D. Herms, S. Hoffmann, P. Holmans, P.A. Huckins, L. Jamain, S. Johnson, J.S. Kalman, J.L. Kamatani, Y. Kennedy, J.L. Kittel-Schneider, S. Knowles, J.A. Kogevinas, M. Koromina, M. Kranz, T.M. Kranzler, H.R. Kubo, M. Kupka, R. Kushner, S.A. Lavebratt, C. Lawrence, J. Leber, M. Lee, H.-J. Lee, P.H. Levy, S.E. Lewis, C. Liao, C. Lucae, S. Lundberg, M. MacIntyre, D.J. Magnusson, S.H. Maier, W. Maihofer, A. Malaspina, D. Maratou, E. Martinsson, L. Mattheisen, M. McCarroll, S.A. McGregor, N.W. McGuffin, P. McKay, J.D. Medeiros, H. Medland, S.E. Millischer, V. Montgomery, G.W. Moran, J.L. Morris, D.W. Mühleisen, T.W. O’Brien, N. O’Donovan, C. Olde Loohuis, L.M. Oruc, L. Papiol, S. Pardiñas, A.F. Perry, A. Pfennig, A. Porichi, E. Potash, J.B. Quested, D. Raj, T. Rapaport, M.H. DePaulo, J.R. Regeer, E.J. Rice, J.P. Rivas, F. Rivera, M. Roth, J. Roussos, P. Ruderfer, D.M. Sánchez-Mora, C. Schulte, E.C. Senner, F. Sharp, S. Shilling, P.D. Sigurdsson, E. Sirignano, L. Slaney, C. Smeland, O.B. Smith, D.J. Sobell, J.L. Søholm Hansen, C. Soler Artigas, M. Spijker, A.T. Stein, D.J. Strauss, J.S. Świątkowska, B. Terao, C. Thorgeirsson, T.E. Toma, C. Tooney, P. Tsermpini, E.-E. Vawter, M.P. Vedder, H. Walters, J.T.R. Witt, S.H. Xi, S. Xu, W. Yang, J.M.K. Young, A.H. Young, H. Zandi, P.P. Zhou, H. Zillich, L. Adolfsson, R. Agartz, I. Alda, M. Alfredsson, L. Babadjanova, G. Backlund, L. Baune, B.T. Bellivier, F. Bengesser, S. Berrettini, W.H. Blackwood, D.H.R. Boehnke, M. Børglum, A.D. Breen, G. Carr, V.J. Catts, S. Corvin, A. Craddock, N. Dannlowski, U. Dikeos, D. Esko, T. Etain, B. Ferentinos, P. Frye, M. Fullerton, J.M. Gawlik, M. Gershon, E.S. Goes, F.S. Green, M.J. Grigoroiu-Serbanescu, M. Hauser, J. Henskens, F. Hillert, J. Hong, K.S. Hougaard, D.M. Hultman, C.M. Hveem, K. Iwata, N. Jablensky, A.V. Jones, I. Jones, L.A. Kahn, R.S. Kelsoe, J.R. Kirov, G. Landén, M. Leboyer, M. Lewis, C.M. Li, Q.S. Lissowska, J. Lochner, C. Loughland, C. Martin, N.G. Mathews, C.A. Mayoral, F. McElroy, S.L. McIntosh, A.M. McMahon, F.J. Melle, I. Michie, P. Milani, L. Mitchell, P.B. Morken, G. Mors, O. Mortensen, P.B. Mowry, B. Müller-Myhsok, B. Myers, R.M. Neale, B.M. Nievergelt, C.M. Nordentoft, M. Nöthen, M.M. O’Donovan, M.C. Oedegaard, K.J. Olsson, T. Owen, M.J. Paciga, S.A. Pantelis, C. Pato, C. Pato, M.T. Patrinos, G.P. Perlis, R.H. Posthuma, D. Ramos-Quiroga, J.A. Reif, A. Reininghaus, E.Z. Ribasés, M. Rietschel, M. Ripke, S. Rouleau, G.A. Saito, T. Schall, U. Schalling, M. Schofield, P.R. Schulze, T.G. Scott, L.J. Scott, R.J. Serretti, A. Shannon Weickert, C. Smoller, J.W. Stefansson, H. Stefansson, K. Stordal, E. Streit, F. Sullivan, P.F. Turecki, G. Vaaler, A.E. Vieta, E. Vincent, J.B. Waldman, I.D. Weickert, T.W. Werge, T. Wray, N.R. Zwart, J.-A. Biernacka, J.M. Nurnberger, J.I. Cichon, S. Edenberg, H.J. Stahl, E.A. McQuillin, A. Di Florio, A. Ophoff, R.A. Andreassen, O.A. HUNT All-In Psychiatry
- Abstract
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci. Bipolar disorder risk alleles were enriched in genes in synaptic signaling pathways and brain-expressed genes, particularly those with high specificity of expression in neurons of the prefrontal cortex and hippocampus. Significant signal enrichment was found in genes encoding targets of antipsychotics, calcium channel blockers, antiepileptics and anesthetics. Integrating expression quantitative trait locus data implicated 15 genes robustly linked to bipolar disorder via gene expression, encoding druggable targets such as HTR6, MCHR1, DCLK3 and FURIN. Analyses of bipolar disorder subtypes indicated high but imperfect genetic correlation between bipolar disorder type I and II and identified additional associated loci. Together, these results advance our understanding of the biological etiology of bipolar disorder, identify novel therapeutic leads and prioritize genes for functional follow-up studies. © 2021, The Author(s), under exclusive licence to Springer Nature America, Inc.
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- 2021
4. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
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Chen, Z., Zhang, D., Reynolds, R.H., Gustavsson, E.K., García-Ruiz, S., D'Sa, K., Fairbrother-Browne, A., Vandrovcova, J., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Kia, D.A., Tan, M., Morris, H.R., Plun-Favreau, H., Holmans, P., Trabzuni, D., Bras, J., Quinn, J., Mok, K.Y., Kinghorn, K.J., Billingsley, K., Wood, N.W., Lewis, P., Schreglmann, S., Guerreiro, Rita, Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Brice, A., Danjou, F., Lesage, S., Corvol, Jean-Christophe, Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M. R, Bandres-Ciga, S., Blauwendraat, Cornelis, Craig, David W, Faghri, F., Gibbs, J.R., Hernandez, D.G., Van Keuren-Jensen, K., Shulman, J.M., Leonard, H.L., Nalls, M.A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N.E., Lungu, C., Singleton, A. B., Scholz, S.W., Reed, X., Alcalay, Roy N, Gan-Or, Z., Rouleau, G.A., Krohn, L., van Hilten, J.J., Marinus, J., Adarmes-Gómez, A.D, Aguilar Barberà, Miquel, Alvarez, Ignacio, Alvarez, V., Barrero, F. J, Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, Marta, Botía, J., Boungiorno, M.T., Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, M., Dols Icardo, Oriol, Duarte, J., Duran, Raquel, Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernández, M., Fernández-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesús, S., Jimenez-Escrig, A., Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, J.L., de Munain Arregui, A.L., Macias, D., Torres, I.M., Marín, J., Marti, M.J., Martínez-Castrillo, J.C., Méndez-del-Barrio, C., González, M.M., Mata, M., Mínguez, A., Mir, P., Rezola, E.M., Muñoz, E., Pagonabarraga Mora, Javier, Pastor, P., Errazquin, F.P., Periñán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, Alexander, Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Hardy, J., Houlden, Henry, Gagliano Taliun, S. A., Ryten, M., Universitat Autònoma de Barcelona, Universidad de Cantabria, Lord Leonard and Lady Estelle Wolfson Foundation, Medical Research Council (UK), Dementia Research Institute (UK), Alzheimer Society, Alzheimer's Research UK, Wellcome Trust, Dolby Family Fund, National Institute for Health Research (UK), NIHR Biomedical Research Centre (UK), Agencia Estatal de Investigación (España), Fundación Séneca, and Gobierno de la Región de Murcia
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0301 basic medicine ,Apolipoprotein E ,Aging ,Messenger ,General Physics and Astronomy ,Neurodegenerative ,Alzheimer's Disease ,Genome ,Linkage Disequilibrium ,Negative selection ,0302 clinical medicine ,2.1 Biological and endogenous factors ,Aetiology ,health care economics and organizations ,Conserved Sequence ,Phylogeny ,Multidisciplinary ,Brain ,Neurodegenerative Diseases ,Single Nucleotide ,Alzheimer's disease ,Phenotype ,International Parkinson’s Disease Genomics Consortium ,Neurological ,Regression Analysis ,Long Noncoding ,DNA, Intergenic ,RNA, Long Noncoding ,Human ,Biotechnology ,Lineage (genetic) ,Science ,1.1 Normal biological development and functioning ,Computational biology ,Biology ,Polymorphism, Single Nucleotide ,Article ,General Biochemistry, Genetics and Molecular Biology ,Chromosomes ,03 medical and health sciences ,Apolipoproteins E ,Underpinning research ,Alzheimer Disease ,Genetic variation ,Genetics ,Acquired Cognitive Impairment ,Humans ,RNA, Messenger ,Polymorphism ,Gene ,Whole genome sequencing ,Intergenic ,Pair 19 ,Genome, Human ,Human Genome ,Neurosciences ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Molecular Sequence Annotation ,General Chemistry ,DNA ,Introns ,Brain Disorders ,030104 developmental biology ,Gene Ontology ,RNA ,Dementia ,Chromosomes, Human, Pair 19 ,030217 neurology & neurosurgery - Abstract
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. We propose that these constrained, non-conserved regions (CNCRs) have been subject to human-specific purifying selection and are enriched for brain-specific elements. We find that CNCRs are depleted from protein-coding genes but enriched within lncRNAs. We demonstrate that per-SNP heritability of a range of brain-relevant phenotypes are enriched within CNCRs. We find that genes implicated in neurological diseases have high CNCR density, including APOE, highlighting an unannotated intron-3 retention event. Using human brain RNA-sequencing data, we show the intron-3-retaining transcript to be more abundant in Alzheimer’s disease with more severe tau and amyloid pathological burden. Thus, we demonstrate potential association of human-lineage-specific sequences in brain development and neurological disease., Knowledge of genomic features specific to humans may be important for understanding disease. Here the authors demonstrate a potential role for these human-lineage-specific sequences in brain development and neurological disease.
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- 2021
5. Ataxies, paraparésies spastiques et neuropathies héréditaires fréquentes dans l’Est du Canada
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Dupré, N., Chrestian, N., Thiffault, I., Brais, B., Rouleau, G.A., and Bouchard, J.-P.
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- 2008
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6. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
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Kwiatkowski, T.J., Jr., Bosco, D.A., LeClerc, A.L., Tamrazian, E., Vanderburg, C.R., Russ, C., Davis, A., Gilchrist, J., Kasarskis, E.J., Munsat, T., Valdmanis, P., Rouleau, G.A., Hosler, B.A., Cortelli, P., de Jong, P.J., Yoshinaga, Y., Haines, J.L., Pericak-Vance, M.A., Yan, J., Ticozzi, N., Siddique, T., McKenna-Yasek, D., Sapp, P.C., Horvitz, H. R., Landers, J. E., and Brown, R.H., Jr.
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Mutation (Biology) -- Methods ,Amyotrophic lateral sclerosis -- Genetic aspects ,Science and technology - Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcomo/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predominantly in the nucleus. In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS. Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.
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- 2009
7. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
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Guelfi S., D’Sa K., Botía J.A., Vandrovcova J., Reynolds R.H., Zhang D., Trabzuni D., Collado-Torres L., Thomason A., Quijada Leyton P., Gagliano Taliun S.A., Nalls M.A., Noyce A.J., Nicolas A., Cookson M.R., Bandres-Ciga S., Gibbs J.R., Hernandez D.G., Singleton A.B., Reed X., Leonard H., Blauwendraat C., Faghri F., Bras J., Guerreiro R., Tucci A., Kia D.A., Houlden H., Plun-Favreau H., Mok K.Y., Wood N.W., Lovering R., R’Bibo L., Rizig M., Chelban V., Tan M., Morris H.R., Middlehurst B., Quinn J., Billingsley K., Holmans P., Kinghorn K.J., Lewis P., Escott-Price V., Williams N., Foltynie T., Brice A., Danjou F., Lesage S., Corvol J.-C., Martinez M., Giri A., Schulte C., Brockmann K., Simón-Sánchez J., Heutink P., Gasser T., Rizzu P., Sharma M., Shulman J.M., Robak L., Lubbe S., Mencacci N.E., Finkbeiner S., Lungu C., Scholz S.W., Gan-Or Z., Rouleau G.A., Krohan L., van Hilten J.J., Marinus J., Adarmes-Gómez A.D., Bernal-Bernal I., Bonilla-Toribio M., Buiza-Rueda D., Carrillo F., Carrión-Claro M., Mir P., Gómez-Garre P., Jesús S., Labrador-Espinosa M.A., Macias D., Vargas-González L., Méndez-del-Barrio C., Periñán-Tocino T., Tejera-Parrado C., Diez-Fairen M., Aguilar M., Alvarez I., Boungiorno M.T., Carcel M., Pastor P., Tartari J.P., Alvarez V., González M.M., Blazquez M., Garcia C., Suarez-Sanmartin E., Barrero F.J., Rezola E.M., Yarza J.A.B., Pagola A.G., Arregui A.L.M., Ruiz-Martínez J., Cerdan D., Duarte J., Clarimón J., Dols-Icardo O., Infante J., Marín J., Kulisevsky J., Pagonabarraga J., Gonzalez-Aramburu I., Rodriguez A.S., Sierra M., Duran R., Ruz C., Vives F., Escamilla-Sevilla F., Mínguez A., Cámara A., Compta Y., Ezquerra M., Marti M.J., Fernández M., Muñoz E., Fernández-Santiago R., Tolosa E., Valldeoriola F., García-Ruiz P., Heredia M.J.G., Errazquin F.P., Hoenicka J., Jimenez-Escrig A., Martínez-Castrillo J.C., Lopez-Sendon J.L., Torres I.M., Tabernero C., Vela L., Zimprich A., Pihlstrom L., Koks S., Taba P., Majamaa K., Siitonen A., Okubadejo N.U., Ojo O.O., Forabosco P., Walker R., Small K.S., Smith C., Ramasamy A., Hardy J., Weale M.E., and Ryten M.
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medicine ,RNA splicing ,phenotype ,brain ,genotype ,Quantitative Trait Loci ,genetic analysis ,Polymorphism, Single Nucleotide ,Article ,genetic regulation ,mental disease ,transcriptomics ,quantitative trait locus ,expression quantitative trait locus ,single nucleotide polymorphism ,Humans ,genetics ,human ,reproducibility ,Alleles ,Neurons ,genome-wide association study ,human cell ,allele ,Putamen ,Reproducibility of Results ,RNA sequencing ,Parkinson Disease ,gene expression regulation ,cell ,cohort analysis ,neurologic disease ,human tissue ,schizophrenia ,Substantia Nigra ,disease incidence ,physiology ,gene expression ,RNA ,physiological response ,Nervous System Diseases ,nerve cell ,Transcriptome ,nervous system disorder ,basal ganglion - Abstract
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/. © 2020, The Author(s).
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- 2020
8. K-Cl cotransport in red blood cells from patients with KCC3 isoform mutants (1)
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Lauf, P.K., Adragna, N.C., Dupre, N., Bouchard, J.P., and Rouleau, G.A.
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Gene mutations -- Analysis -- Physiological aspects ,Erythrocytes -- Physiological aspects -- Analysis ,Corpus callosum -- Physiological aspects -- Analysis ,Biological sciences ,Physiological aspects ,Analysis - Abstract
Abstract: Red blood cells (RBCs) possess the K-Cl cotransport (KCC) isoforms 1, 3, and 4. Mutations within a given isoform may affect overall KCC activity. In a double-blind study, we [...]
- Published
- 2006
9. The genetic landscape of hereditary spastic paraplegia in Canada
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Estiar, M.A., primary, Yu, E., additional, Ruskey, J.A., additional, Leveille, E., additional, Asayesh, F., additional, Spiegelman, D., additional, Trempe, J.F., additional, Tarnopolsky, M., additional, Suchowersky, O., additional, Dupré, N., additional, Boycott, K.M., additional, Yoon, G., additional, Rouleau, G.A., additional, and Gan-Or, Z., additional
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- 2020
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10. NPC1 variants are not associated with Parkinson's disease
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Senkevich, K., primary, Amar Bencheikh, B. Ouled, additional, Rudakou, U., additional, Yu, E., additional, Mufti, K., additional, Ruskey, J.A., additional, Asayesh, F., additional, Laurent, S.B., additional, Spiegelman, D., additional, Fahn, S., additional, Waters, C., additional, Monchi, O., additional, Dauvilliers, Y., additional, Alcalay, R.N., additional, Dupré, N., additional, Greenbaum, L., additional, Hassin-Baer, S., additional, Espay, A.J., additional, Rouleau, G.A., additional, Fon, E.A., additional, and Gan-Or, Z., additional
- Published
- 2020
- Full Text
- View/download PDF
11. Analysis of heterozygous PRKN variants and copy number variations in Parkinson's disease
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Yu, E., primary, Krohn, L., additional, Rudakov, U., additional, Mufti, K., additional, Ruskey, J.A., additional, Asayesh, F., additional, Estiar, M.A., additional, Spiegelman, D., additional, Greenbaum, L., additional, Dauvilliers, Y., additional, Dupre, N., additional, Rouleau, G.A., additional, Hassin-Baer, S., additional, Fon, E.A., additional, Alcalay, R.N., additional, and Gan-Or, Z., additional
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- 2020
- Full Text
- View/download PDF
12. Analysis of dominant and recessive parkinsonism genes in REM sleep behavior disorder
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Mufti, K., primary, Rudakou, U., additional, Yu, E., additional, Ruskey, J.A., additional, Asavesh, F., additional, Laurent, S.B., additional, Arnulf, I., additional, Hu, M.T.M., additional, Dauvilliers, Y., additional, Högl, B., additional, Stefani, A., additional, Holzknecht, E., additional, Monaca, C.C., additional, Abril, B., additional, Plazzi, G., additional, Antelmi, E., additional, Ferini-Strambi, L., additional, Heidbreder, A., additional, Young, P., additional, De Cock, V. Cochen, additional, Mollenhauer, B., additional, Sixel-Döring, F., additional, Trenkwalder, C., additional, Sonka, K., additional, Kemlink, D., additional, Figorilli, M., additional, Puligheddu, M., additional, Dijkstra, F., additional, Viaene, M., additional, Oertel, W., additional, Boeve, B.F., additional, Gigli, G.L., additional, Valente, M., additional, Gagnon, J.-F., additional, Desautels, A., additional, Montplaisir, J.Y., additional, Postuma, R.B., additional, Rouleau, G.A., additional, and Gan-Or, Z., additional
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- 2020
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13. GBA variants in REM sleep behavior disorder risk and conversion: a multicenter study
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Krohn, L., primary, Ruskey, J.A., additional, Rudakou, U., additional, Leveille, E., additional, Asayesh, F., additional, Hu, M.T.M., additional, Arnulf, I., additional, Dauvilliers, Y., additional, Högl, B., additional, Stefani, A., additional, Monaca, C.C., additional, Abril, B., additional, Plazzi, G., additional, Antelmi, E., additional, Ferini-Strambi, L., additional, Heidbreder, A., additional, Boeve, B.F., additional, Espay, A.J., additional, Cochen de Cock, V., additional, Mollenhauer, B., additional, Sixel-Döring, F., additional, Trenkwalder, C., additional, Sonka, K., additional, Kemlink, D., additional, Figorilli, M., additional, Puligheddu, M., additional, Dijkstra, F., additional, Viaene, M., additional, Oertel, W., additional, Janzen, A., additional, Toffoli, M., additional, Gigli, G.L., additional, Valente, M., additional, Gagnon, J.-F., additional, Desautels, A., additional, Montplaisir, J.Y., additional, Postuma, R.B., additional, Rouleau, G.A., additional, and Gan-Or, Z., additional
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- 2020
- Full Text
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14. Neurofibromatosis Type 2: Further Questions and Answers
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Ruttledge, M.H., primary and Rouleau, G.A., additional
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- 2009
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15. A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13
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Meijer, I.A., Hand, C.K., Grewal, K.K., Stefanelli, M.G., Ives, E.J., and Rouleau, G.A.
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Ataxia -- Genetic aspects ,Genetic disorders -- Research ,Biological sciences - Published
- 2002
16. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability
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Reynolds, R.H., Botia, J., Nalls, M.A., Hardy, J., Taliun, S.A.G., Ryten, M., Noyce, A.J., Nicolas, A., Cookson, M.R., Bandres-Ciga, S., Gibbs, J.R., Hernandez, D.G., Singleton, A.B., Reed, X., Leonard, H., Blauwendraat, C., Faghri, F., Bras, J., Guerreiro, R., Tucci, A., Kia, D.A., Houlden, H., Plun-Favreau, H., Mok, K.Y., Wood, N.W., Lovering, R., R'Bibo, L., Rizig, M., Chelban, V., Trabzuni, D., Tan, M., Morris, H.R., Middlehurst, B., Quinn, J., Billingsley, K., Holmans, P., Kinghorn, K.J., Lewis, P., Escott-Price, V., Williams, N., Foltynie, T., Brice, A., Danjou, F., Lesage, S., Corvol, J.C., Martinez, M., Giri, A., Schulte, C., Brockmann, K., Simon-Sanchez, J., Heutink, P., Gasser, T., Rizzu, P., Sharma, M., Shulman, J.M., Robak, L., Lubbe, S., Mencacci, N.E., Finkbeiner, S., Lungu, C., Scholz, S.W., Gan-Or, Z., Rouleau, G.A., Krohan, L., Hilten, J.J. van, Marinus, J., Adarmes-Gomez, A.D., Bernal-Bernal, I., Bonilla-Toribio, M., Buiza-Rueda, D., Carrillo, F., Carrion-Claro, M., Mir, P., Gomez-Garre, P., Jesus, S., Labrador-Espinosa, M.A., Macias, D., Vargas-Gonzalez, L., Mendez-del-Barrio, C., Perinan-Tocino, T., Tejera-Parrado, C., Diez-Fairen, M., Aguilar, M., Alvarez, I., Boungiorno, M.T., Carcel, M., Pastor, P., Tartari, J.P., Alvarez, V., Gonzalez, M.M., Blazquez, M., Garcia, C., Suarez-Sanmartin, E., Barrero, F.J., Rezola, E.M., Yarza, J.A.B., Pagola, A.G., Arregui, A.L.D., Ruiz-Martinez, J., Cerdan, D., Duarte, J., Clarimon, J., Dols-Icardo, O., Infante, J., Marin, J., Kulisevsky, J., Pagonabarraga, J., Gonzalez-Aramburu, I., Rodriguez, A.S., Sierra, M., Duran, R., Ruz, C., Vives, F., Escamilla-Sevilla, F., Minguez, A., Camara, A., Compta, Y., Ezquerra, M., Marti, M.J., Fernandez, M., Munoz, E., Fernandez-Santiago, R., Tolosa, E., Valldeoriola, F., Garcia-Ruiz, P., Heredia, M.J.G., Errazquin, F.P., Hoenicka, J., Jimenez-Escrig, A., Martinez-Castrillo, J.C., Lopez-Sendon, J.L., Torres, I.M., Tabernero, C., Vela, L., Zimprich, A., Pihlstrom, L., Koks, S., Taba, P., Majamaa, K., Siitonen, A., Okubadejo, N.U., Ojo, O.O., Pitcher, T., Anderson, T., Bentley, S., Fowdar, J., Mellick, G., Dalrymple-Alford, J., Henders, A.K., Kassam, I., Montgomery, G., Sidorenko, J., Zhang, F.T., Xue, A.L., Vallerga, C.L., Wallace, L., Wray, N.R., Yang, J., Visscher, P.M., Gratten, J., Silburn, P.A., Halliday, G., Hickie, I., Kwok, J., Lewis, S., Kennedy, M., Pearson, J., Int Parkinsons Dis Genomics, and Syst Genomics Parkinsons Dis
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- 2019
17. SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease
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Fernandez-Santiago, R., Martin-Flores, N., Antonelli, F., Cerquera, C., Moreno, V., Bandres-Ciga, S., Manduchi, E., Tolosa, E., Singleton, A.B., Moore, J.H., Noyce, A.J., Kaiyrzhanov, R., Middlehurst, B., Kia, D.A., Tan, M., Houlden, H., Morris, H.R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Bras, J., Quinn, J., Mok, K.Y., Kinghorn, K.J., Billingsley, K., Wood, N.W., Lewis, P., Schreglmann, S., Guerreiro, R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Morrison, K.E., Clarke, C., Brice, A., Danjou, F., Lesage, S., Corvol, J.C., Martinez, M., Schulte, C., Brockmann, K., Simoon-Saanchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M.R., Blauwendraat, C., Craig, D.W., Faghri, F., Gibbs, J.R., Hernandez, D.G., Keuren-Jensen, K. van, Shulman, J.M., Iwaki, H., Leonard, H.L., Nalls, M.A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N.E., Lungu, C., Scholz, S.W., Reed, X., Alcalay, R.N., Gan-Or, Z., Rouleau, G.A., Krohn, L., Hilten, J.J. van, Marinus, J., Adarmes-Goomez, A.D., Aguilar, I., Alvarez, I., Alvarez, V., Barrero, F.J., Yarza, J.A.B., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, M., Botia, J.A., Boungiorno, M.T., Buiza-Rueda, D., Camara, A., Carrillo, F., Carrion-Claro, M., Cerdan, D., Clarimon, J., Compta, Y., Casa, B. de la, Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernandez, M., Garcia, C., Garcia-Ruiz, P., Gomez-Garre, P., Heredia, M.J.G., Gonzalez-Aramburu, I., Pagola, A.G., Hoenicka, J., Infante, J., Jesus, S., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M.A., Lopez-Sendon, J.L., Arregui, A.L.D., Macias, D., Torres, I.M., Marin, J., Marti, M.J., Martinez-Castrillo, C., Mendez-del-Barrio, C., Gonzalez, M.M., Mata, M., Minguez, A., Mir, P., Rezola, E.M., Munoz, E., Pagonabarraga, J., Pascual-Sedano, B., Pastor, P., Errazquin, F.P., Perinan-Tocino, T., Ruiz-Martinez, J., Ruz, C., Rodriguez, A.S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J.P., Tejera-Parrado, C., Valldeoriola, F., Vargas-Gonzalez, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Malagelada, C., Int Parkinson's Dis Genomics Conso, Fundació La Marató de TV3, Michael J. Fox Foundation for Parkinson's Research, National Institutes of Health (US), Ministerio de Economía y Competitividad (España), Agencia Estatal de Investigación (España), and Ministerio de Ciencia, Innovación y Universidades (España)
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0301 basic medicine ,epistasis ,Male ,Parkinson's disease ,very elderly ,alpha-synuclein ,Alpha‐synuclein ,regulatory associated protein of mTOR ,Cohort Studies ,0302 clinical medicine ,single nucleotide polymorphism ,genetics ,Age of Onset ,Genetics ,Aged, 80 and over ,Polymorphism, Single Nucleoti ,biology ,TOR Serine-Threonine Kinases ,target of rapamycin kinase ,fchsd1 gene ,Age at onset ,Chromosome Mapping ,glycogen synthase kinase 3beta ,Parkinson Disease ,Middle Aged ,cohort analysis ,LRRK2 ,priority journal ,Neurology ,chromosomal mapping ,neuromodulation ,mTOR ,alpha-Synuclein ,Female ,age at onset ,Signal Transduction ,onset age ,Adult ,MTOR protein, human ,protein kinase LKB1 ,gene locus ,Genotype ,multifactor dimensionality reduction ,SNP ,Single-nucleotide polymorphism ,rps6ka2 gene ,Polymorphism, Single Nucleotide ,Risk Assessment ,Article ,brain function ,03 medical and health sciences ,alpha synuclein ,medicine ,Humans ,controlled study ,Genetic Predisposition to Disease ,human ,ddc:610 ,SNCA protein, human ,gene ,Mechanistic target of rapamycin ,PI3K/AKT/mTOR pathway ,mammalian target of rapamycin ,Aged ,RPTOR ,Epistasis, Genetic ,Odds ratio ,medicine.disease ,major clinical study ,nervous system diseases ,030104 developmental biology ,mTOR signaling ,biology.protein ,Epistasis ,pathology ,Neurology (clinical) ,genetic predisposition ,030217 neurology & neurosurgery - Abstract
Special Issue: Focused Ultrasound in Parkinson's Disease., [Background] Single nucleotide polymorphisms (SNPs) in the α‐synuclein (SNCA ) gene are associated with differential risk and age at onset (AAO) of both idiopathic and Leucine‐rich repeat kinase 2 (LRRK2)‐associated Parkinson's disease (PD). Yet potential combinatory or synergistic effects among several modulatory SNPs for PD risk or AAO remain largely underexplored., [Objectives] The mechanistic target of rapamycin (mTOR ) signaling pathway is functionally impaired in PD. Here we explored whether SNPs in the mTOR pathway, alone or by epistatic interaction with known susceptibility factors, can modulate PD risk and AAO., [Methods] Based on functional relevance, we selected a total of 64 SNPs mapping to a total of 57 genes from the mTOR pathway and genotyped a discovery series cohort encompassing 898 PD patients and 921 controls. As a replication series, we screened 4170 PD and 3014 controls available from the International Parkinson's Disease Genomics Consortium., [Results] In the discovery series cohort, we found a 4‐loci interaction involving STK11 rs8111699, FCHSD1 rs456998, GSK3B rs1732170, and SNCA rs356219, which was associated with an increased risk of PD (odds ratio = 2.59, P, [Conclusions] These findings indicate that genetic variability in the mTOR pathway contributes to SNCA effects in a nonlinear epistatic manner to modulate differential AAO in PD, unraveling the contribution of this cascade in the pathogenesis of the disease. © 2019 International Parkinson and Movement Disorder Society, Funding Information; Fundació la Marató de TV3. Grant Number: 60510; Michael J. Fox Foundation for Parkinson's Research. Grant Numbers: Dyskinesia Challenge 2014, MJF_PPMI_10_001, PI044024; National Institutes of Health. Grant Number: LM010098; Secretaría de Estado de Investigación, Desarrollo e Innovación. Grant Number: SAF2014‐57160R and SAF2017‐88812R.
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- 2019
18. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
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Baser, M.E., Kuramoto, L., Woods, R., Joe, H., Friedman, J.M., Wallace, A.J., Ramsden, R.T., Olschwang, S., Bijlsma, E., Kalamarides, M., Papi, L., Kato, R., Carroll, J., Lazaro, C., Joncourt, F., Parry, D.M., Rouleau, G.A., and Evans, D.G.R.
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Neurofibromatosis -- Development and progression ,Gene mutations -- Observations ,Health - Published
- 2005
19. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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Kenna, K.P., van Doormaal, P.T.C., Dekker, A.M., Ticozzi, N., Kenna, B.J., Diekstra, F.P., van Rheenen, W., van Eijk, K.R., Jones, A.R., Keagle, P., Shatunov, A., Sproviero, W., Smith, B.N., van Es, M.A., Topp, S.D., Kenna, A., Miller, J.W., Fallini, C., Tiloca, C., McLaughlin, R.L., Vance, C., Troakes, C., Colombrita, C., Mora, G., Calvo, A., Verde, F., Al-Sarraj, S., King, A., Calini, D., de Belleroche, J., Baas, F., van der Kooi, A.J., de Visser, M., ten Asbroek, A.L.M.A., Sapp, P.C., McKenna-Yasek, D., Polak, M., Asress, S., Muñoz-Blanco, J.L., Strom, T.M., Meitinger, T., Morrison, K.E., D'Alfonso, S., Mazzini, L., Comi, G.P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Pensato, V., Castellotti, B., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Lauria, G., Williams, K.L., Leigh, P.N., Nicholson, G.A., Blair, I.P., Leblond, C.S., Dion, P.A., Rouleau, G.A., Pall, H., Shaw, P.J., Turner, M.R., Talbot, K., Taroni, F., Boylan, K.B., Van Blitterswijk, M., Rademakers, R., Esteban-Pérez, J., García-Redondo, A., Van Damme, P., Robberecht, W., Chio, A., Gellera, C., Drepper, C., Sendtner, M., Ratti, A., Glass, J.D., Mora, J.S., Basak, N.A., Hardiman, O., Ludolph, A.C., Andersen, P.M., Weishaupt, J.H., Brown, R.H., Al-Chalabi, A., Silani, V., Shaw, C.E., van den Berg, L.H., Veldink, J.H., Landers, J.E., Medical Research Council (MRC), Human Genetics, Neurology, ANS - Neurodegeneration, and SLAGEN Consortium
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0301 basic medicine ,medicine.medical_specialty ,Genomics ,Biology ,medicine.disease_cause ,Article ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Journal Article ,Genetics ,medicine ,Humans ,Comparative Study ,Exome ,Genetic Predisposition to Disease ,SLAGEN Consortium ,Risk factor ,Amyotrophic lateral sclerosis ,Gene ,Genetic Association Studies ,Netherlands ,Mutation ,Amyotrophic Lateral Sclerosis ,Case-control study ,11 Medical And Health Sciences ,06 Biological Sciences ,medicine.disease ,3. Good health ,NIMA-Related Kinase 1 ,030104 developmental biology ,RC0346 ,Case-Control Studies ,Medical genetics ,Human medicine ,030217 neurology & neurosurgery ,Developmental Biology - Abstract
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we performed gene-burden analyses trained with established ALS genes and identified a significant association between loss-of-function (LOF) NEK1 variants and FALS risk. Independently, autozygosity mapping for an isolated community in the Netherlands identified a NEK1 p.Arg261His variant as a candidate risk factor. Replication analyses of sporadic ALS (SALS) cases and independent control cohorts confirmed significant disease association for both p.Arg261His (10,589 samples analyzed) and NEK1 LOF variants (3,362 samples analyzed). In total, we observed NEK1 risk variants in nearly 3% of ALS cases. NEK1 has been linked to several cellular functions, including cilia formation, DNA-damage response, microtubule stability, neuronal morphology and axonal polarity. Our results provide new and important insights into ALS etiopathogenesis and genetic etiology. ispartof: Nature Genetics vol:48 issue:9 pages:1037-+ ispartof: location:United States status: published
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- 2016
20. Analysis of shared heritability in common disorders of the brain
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Anttila, V. Bulik-Sullivan, B. Finucane, H.K. Walters, R.K. Bras, J. Duncan, L. Escott-Price, V. Falcone, G.J. Gormley, P. Malik, R. Patsopoulos, N.A. Ripke, S. Wei, Z. Yu, D. Lee, P.H. Turley, P. Grenier-Boley, B. Chouraki, V. Kamatani, Y. Berr, C. Letenneur, L. Hannequin, D. Amouyel, P. Boland, A. Deleuze, J.-F. Duron, E. Vardarajan, B.N. Reitz, C. Goate, A.M. Huentelman, M.J. Ilyas Kamboh, M. Larson, E.B. Rogaeva, E. George-Hyslop, P.S. Hakonarson, H. Kukull, W.A. Farrer, L.A. Barnes, L.L. Beach, T.G. Yesim Demirci, F. Head, E. Hulette, C.M. Jicha, G.A. Kauwe, J.S.K. Kaye, J.A. Leverenz, J.B. Levey, A.I. Lieberman, A.P. Pankratz, V.S. Poon, W.W. Quinn, J.F. Saykin, A.J. Schneider, L.S. Smith, A.G. Sonnen, J.A. Stern, R.A. Van Deerlin, V.M. Van Eldik, L.J. Harold, D. Russo, G. Rubinsztein, D.C. Bayer, A. Tsolaki, M. Proitsi, P. Fox, N.C. Hampel, H. Owen, M.J. Mead, S. Passmore, P. Morgan, K. Nöthen, M.M. Rossor, M. Lupton, M.K. Hoffmann, P. Kornhuber, J. Lawlor, B. McQuillin, A. Al-Chalabi, A. Bis, J.C. Ruiz, A. Boada, M. Seshadri, S. Beiser, A. Rice, K. Van Der Lee, S.J. De Jager, P.L. Geschwind, D.H. Riemenschneider, M. Riedel-Heller, S. Rotter, J.I. Ransmayr, G. Hyman, B.T. Cruchaga, C. Alegret, M. Winsvold, B. Palta, P. Farh, K.-H. Cuenca-Leon, E. Furlotte, N. Kurth, T. Ligthart, L. Terwindt, G.M. Freilinger, T. Ran, C. Gordon, S.D. Borck, G. Adams, H.H.H. Lehtimäki, T. Wedenoja, J. Buring, J.E. Schürks, M. Hrafnsdottir, M. Hottenga, J.-J. Penninx, B. Artto, V. Kaunisto, M. Vepsäläinen, S. Martin, N.G. Montgomery, G.W. Kurki, M.I. Hämäläinen, E. Huang, H. Huang, J. Sandor, C. Webber, C. Muller-Myhsok, B. Schreiber, S. Salomaa, V. Loehrer, E. Göbel, H. Macaya, A. Pozo-Rosich, P. Hansen, T. Werge, T. Kaprio, J. Metspalu, A. Kubisch, C. Ferrari, M.D. Belin, A.C. Van Den Maagdenberg, A.M.J.M. Zwart, J.-A. Boomsma, D. Eriksson, N. Olesen, J. Chasman, D.I. Nyholt, D.R. Avbersek, A. Baum, L. Berkovic, S. Bradfield, J. Buono, R. Catarino, C.B. Cossette, P. De Jonghe, P. Depondt, C. Dlugos, D. Ferraro, T.N. French, J. Hjalgrim, H. Jamnadas-Khoda, J. Kälviäinen, R. Kunz, W.S. Lerche, H. Leu, C. Lindhout, D. Lo, W. Lowenstein, D. McCormack, M. Møller, R.S. Molloy, A. Ng, P.-W. Oliver, K. Privitera, M. Radtke, R. Ruppert, A.-K. Sander, T. Schachter, S. Schankin, C. Scheffer, I. Schoch, S. Sisodiya, S.M. Smith, P. Sperling, M. Striano, P. Surges, R. Neil Thomas, G. Visscher, F. Whelan, C.D. Zara, F. Heinzen, E.L. Marson, A. Becker, F. Stroink, H. Zimprich, F. Gasser, T. Gibbs, R. Heutink, P. Martinez, M. Morris, H.R. Sharma, M. Ryten, M. Mok, K.Y. Pulit, S. Bevan, S. Holliday, E. Attia, J. Battey, T. Boncoraglio, G. Thijs, V. Chen, W.-M. Mitchell, B. Rothwell, P. Sharma, P. Sudlow, C. Vicente, A. Markus, H. Kourkoulis, C. Pera, J. Raffeld, M. Silliman, S. Perica, V.B. Thornton, L.M. Huckins, L.M. William Rayner, N. Lewis, C.M. Gratacos, M. Rybakowski, F. Keski-Rahkonen, A. Raevuori, A. Hudson, J.I. Reichborn-Kjennerud, T. Monteleone, P. Karwautz, A. Mannik, K. Baker, J.H. O'Toole, J.K. Trace, S.E. Davis, O.S.P. Helder, S.G. Ehrlich, S. Herpertz-Dahlmann, B. Danner, U.N. Van Elburg, A.A. Clementi, M. Forzan, M. Docampo, E. Lissowska, J. Hauser, J. Tortorella, A. Maj, M. Gonidakis, F. Tziouvas, K. Papezova, H. Yilmaz, Z. Wagner, G. Cohen-Woods, S. Herms, S. Julia, A. Rabionet, R. Dick, D.M. Ripatti, S. Andreassen, O.A. Espeseth, T. Lundervold, A.J. Steen, V.M. Pinto, D. Scherer, S.W. Aschauer, H. Schosser, A. Alfredsson, L. Padyukov, L. Halmi, K.A. Mitchell, J. Strober, M. Bergen, A.W. Kaye, W. Szatkiewicz, J.P. Cormand, B. Ramos-Quiroga, J.A. Sánchez-Mora, C. Ribasés, M. Casas, M. Hervas, A. Arranz, M.J. Haavik, J. Zayats, T. Johansson, S. Williams, N. Dempfle, A. Rothenberger, A. Kuntsi, J. Oades, R.D. Banaschewski, T. Franke, B. Buitelaar, J.K. Vasquez, A.A. Doyle, A.E. Reif, A. Lesch, K.-P. Freitag, C. Rivero, O. Palmason, H. Romanos, M. Langley, K. Rietschel, M. Witt, S.H. Dalsgaard, S. Børglum, A.D. Waldman, I. Wilmot, B. Molly, N. Bau, C.H.D. Crosbie, J. Schachar, R. Loo, S.K. McGough, J.J. Grevet, E.H. Medland, S.E. Robinson, E. Weiss, L.A. Bacchelli, E. Bailey, A. Bal, V. Battaglia, A. Betancur, C. Bolton, P. Cantor, R. Celestino-Soper, P. Dawson, G. De Rubeis, S. Duque, F. Green, A. Klauck, S.M. Leboyer, M. Levitt, P. Maestrini, E. Mane, S. Moreno-De-Luca, D. Parr, J. Regan, R. Reichenberg, A. Sandin, S. Vorstman, J. Wassink, T. Wijsman, E. Cook, E. Santangelo, S. Delorme, R. Roge, B. Magalhaes, T. Arking, D. Schulze, T.G. Thompson, R.C. Strohmaier, J. Matthews, K. Melle, I. Morris, D. Blackwood, D. McIntosh, A. Bergen, S.E. Schalling, M. Jamain, S. Maaser, A. Fischer, S.B. Reinbold, C.S. Fullerton, J.M. Guzman-Parra, J. Mayoral, F. Schofield, P.R. Cichon, S. Mühleisen, T.W. Degenhardt, F. Schumacher, J. Bauer, M. Mitchell, P.B. Gershon, E.S. Rice, J. Potash, J.B. Zandi, P.P. Craddock, N. Nicol Ferrier, I. Alda, M. Rouleau, G.A. Turecki, G. Ophoff, R. Pato, C. Anjorin, A. Stahl, E. Leber, M. Czerski, P.M. Cruceanu, C. Jones, I.R. Posthuma, D. Andlauer, T.F.M. Forstner, A.J. Streit, F. Baune, B.T. Air, T. Sinnamon, G. Wray, N.R. MacIntyre, D.J. Porteous, D. Homuth, G. Rivera, M. Grove, J. Middeldorp, C.M. Hickie, I. Pergadia, M. Mehta, D. Smit, J.H. Jansen, R. De Geus, E. Dunn, E. Li, Q.S. Nauck, M. Schoevers, R.A. Beekman, A.T.F. Knowles, J.A. Viktorin, A. Arnold, P. Barr, C.L. Bedoya-Berrio, G. Joseph Bienvenu, O. Brentani, H. Burton, C. Camarena, B. Cappi, C. Cath, D. Cavallini, M. Cusi, D. Darrow, S. Denys, D. Derks, E.M. Dietrich, A. Fernandez, T. Figee, M. Freimer, N. Gerber, G. Grados, M. Greenberg, E. Hanna, G.L. Hartmann, A. Hirschtritt, M.E. Hoekstra, P.J. Huang, A. Huyser, C. Illmann, C. Jenike, M. Kuperman, S. Leventhal, B. Lochner, C. Lyon, G.J. Macciardi, F. Madruga-Garrido, M. Malaty, I.A. Maras, A. McGrath, L. Miguel, E.C. Mir, P. Nestadt, G. Nicolini, H. Okun, M.S. Pakstis, A. Paschou, P. Piacentini, J. Pittenger, C. Plessen, K. Ramensky, V. Ramos, E.M. Reus, V. Richter, M.A. Riddle, M.A. Robertson, M.M. Roessner, V. Rosário, M. Samuels, J.F. Sandor, P. Stein, D.J. Tsetsos, F. Van Nieuwerburgh, F. Weatherall, S. Wendland, J.R. Wolanczyk, T. Worbe, Y. Zai, G. Goes, F.S. McLaughlin, N. Nestadt, P.S. Grabe, H.-J. Depienne, C. Konkashbaev, A. Lanzagorta, N. Valencia-Duarte, A. Bramon, E. Buccola, N. Cahn, W. Cairns, M. Chong, S.A. Cohen, D. Crespo-Facorro, B. Crowley, J. Davidson, M. DeLisi, L. Dinan, T. Donohoe, G. Drapeau, E. Duan, J. Haan, L. Hougaard, D. Karachanak-Yankova, S. Khrunin, A. Klovins, J. Kučinskas, V. Keong, J.L.C. Limborska, S. Loughland, C. Lönnqvist, J. Maher, B. Mattheisen, M. McDonald, C. Murphy, K.C. Nenadic, I. Van Os, J. Pantelis, C. Pato, M. Petryshen, T. Quested, D. Roussos, P. Sanders, A.R. Schall, U. Schwab, S.G. Sim, K. So, H.-C. Stögmann, E. Subramaniam, M. Toncheva, D. Waddington, J. Walters, J. Weiser, M. Cheng, W. Cloninger, R. Curtis, D. Gejman, P.V. Henskens, F. Mattingsdal, M. Oh, S.-Y. Scott, R. Webb, B. Breen, G. Churchhouse, C. Bulik, C.M. Daly, M. Dichgans, M. Faraone, S.V. Guerreiro, R. Holmans, P. Kendler, K.S. Koeleman, B. Mathews, C.A. Price, A. Scharf, J. Sklar, P. Williams, J. Wood, N.W. Cotsapas, C. Palotie, A. Smoller, J.W. Sullivan, P. Rosand, J. Corvin, A. Neale, B.M. The Brainstorm Consortium
- Abstract
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders. We also identified significant sharing between disorders and a number of brain phenotypes, including cognitive measures. Further, we conducted simulations to explore how statistical power, diagnostic misclassification, and phenotypic heterogeneity affect genetic correlations. These results highlight the importance of common genetic variation as a risk factor for brain disorders and the value of heritability-based methods in understanding their etiology. © 2018 American Association for the Advancement of Science. All rights reserved.
- Published
- 2018
21. Identification of novel risk loci for restless legs syndrome: A meta-analysis of genome-wide association studies in individuals of European ancestry: A meta-analysis
- Author
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Schormair, B., Zhao, C., Bell, S., Tilch, E., Salminen, A.V., Pütz, B., Dauvilliers, Y., Stefani, A., Högl, B., Poewe, W., Kemlink, D., Sonka, K., Bachmann, C.G., Paulus, W., Trenkwalder, C., Oertel, W.H., Hornyak, M., Teder-Laving, M., Metspalu, A., Hadjigeorgiou, G.M., Polo, O., Fietze, I., Ross, O.A., Wszolek, Z., Butterworth, A.S., Soranzo, N., Ouwehand, W.H., Roberts, D.J., Danesh, J., Allen, R.P., Earley, C.J., Ondo, W.G., Xiong, L., Montplaisir, J., Gan-Or, Z., Perola, M., Vodicka, P., Dina, C., Franke, A., Tittmann, L., Stewart, A.F.R., Shah, S.H., Gieger, C., Peters, A., Rouleau, G.A., Berger, K., Oexle, K., di Angelantonio, E., Hinds, D.A., Müller-Myhsok, B., and Winkelmann, J.
- Abstract
Background Restless legs syndrome is a prevalent chronic neurological disorder with potentially severe mental and physical health consequences. Clearer understanding of the underlying pathophysiology is needed to improve treatment options. We did a meta-analysis of genome-wide association studies (GWASs) to identify potential molecular targets. Methods In the discovery stage, we combined three GWAS datasets (EU-RLS GENE, INTERVAL, and 23andMe) with diagnosis data collected from 2003 to 2017, in face-to-face interviews or via questionnaires, and involving 15 126 cases and 95 725 controls of European ancestry. We identified common variants by fixed-effect inverse-variance meta-analysis. Significant genome-wide signals (p≤5 × 10−8) were tested for replication in an independent GWAS of 30 770 cases and 286 913 controls, followed by a joint analysis of the discovery and replication stages. We did gene annotation, pathway, and gene-set-enrichment analyses and studied the genetic correlations between restless legs syndrome and traits of interest. Findings We identified and replicated 13 new risk loci for restless legs syndrome and confirmed the previously identified six risk loci. MEIS1 was confirmed as the strongest genetic risk factor for restless legs syndrome (odds ratio 1·92, 95% CI 1·85–1·99). Gene prioritisation, enrichment, and genetic correlation analyses showed that identified pathways were related to neurodevelopment and highlighted genes linked to axon guidance (associated with SEMA6D), synapse formation (NTNG1), and neuronal specification (HOXB cluster family and MYT1). Interpretation Identification of new candidate genes and associated pathways will inform future functional research. Advances in understanding of the molecular mechanisms that underlie restless legs syndrome could lead to new treatment options. We focused on common variants; thus, additional studies are needed to dissect the roles of rare and structural variations.  
- Published
- 2017
22. Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis
- Author
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Daoud, H., Valdmanis, P.N., Kabashi, E., Dion, P., Dupre, N., Camu, W., Meininger, V., and Rouleau, G.A.
- Subjects
Gene mutations -- Research ,Amyotrophic lateral sclerosis -- Development and progression ,Amyotrophic lateral sclerosis -- Genetic aspects ,Amyotrophic lateral sclerosis -- Research ,Health - Published
- 2009
23. Alpha galactosidase A activity in Parkinson's disease
- Author
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Alcalay, R.N., primary, Wolf, P., additional, Levy, O.A., additional, Kang, U.J., additional, Waters, C., additional, Fahn, S., additional, Ford, B., additional, Kuo, S.H., additional, Vanegas, N., additional, Shah, H., additional, Liong, C., additional, Narayan, S., additional, Pauciulo, M.W., additional, Nichols, W.C., additional, Gan-Or, Z., additional, Rouleau, G.A., additional, Chung, W.K., additional, Oliva, P., additional, Keutzer, J., additional, Marder, K., additional, and Zhang, X.K., additional
- Published
- 2018
- Full Text
- View/download PDF
24. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures
- Author
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Mahmud, A.A., primary, Nahid, N.A., additional, Nassif, C., additional, Sayeed, M.S.B., additional, Ahmed, M.U., additional, Parveen, M., additional, Khalil, M.I., additional, Islam, M.M., additional, Nahar, Z., additional, Rypens, F., additional, Hamdan, F.F., additional, Rouleau, G.A., additional, Hasnat, A., additional, and Michaud, J.L., additional
- Published
- 2016
- Full Text
- View/download PDF
25. Evidence for a common ancester in 2 large families with phenotypically variable pastic ataxia
- Author
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Grewal, K.K., Stefanelli, M.G., Meijer, I.A., Hand, C.K., Rouleau, G.A., and Ives, E.J.
- Subjects
Human genetics -- Research ,Nervous system -- Degeneration ,Ataxia -- Genetic aspects ,Spasticity -- Genetic aspects ,Biological sciences - Published
- 2001
26. Allele Class-independent Intrafamilial correlation of Age at Onset, Age at Hearing Loss and Number of Intracranial Meningiomas in neurofibromatosis 2 (NF2)
- Author
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Zhao, Y., Kumar, R.A., Baser, M.E., Evans, D.G.R., Wallace, A., Rouleau, G.A., Mautner, V.F., Kluwe, L., Joe, H., and Friedman, J.M.
- Subjects
Genetic disorders -- Research ,Neurofibromatosis -- Physiological aspects ,Human genetics -- Research ,Biological sciences - Published
- 2001
27. Krit1 mutations are responsible for the majority of inherited CCMs: a molecular genetic study of 38 families
- Author
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Verlaan, D., Davenport, W.J., Stefan, H., Siegel, A.M., and Rouleau, G.A.
- Subjects
Human genetics -- Research ,Genetic disorders -- Research ,Brain diseases -- Diseases ,Hemorrhagic diseases -- Genetic aspects ,Biological sciences - Published
- 2001
28. A locus for dominant Hereditary Spastic Ataxia
- Author
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Meijer, I.A., Hand, C.K., Grewal, K.K., Stefanelli, M.G., Ives, E.J., and Rouleau, G.A.
- Subjects
Human genetics -- Research ,Nervous system -- Degeneration ,Genetic disorders -- Research ,Biological sciences - Published
- 2001
29. An inducible adenoviral model of OPMD demonstrates time dependent formation of intranuclear inclusions and apoptosis
- Author
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Lavoie, H., Dicaire, M-J., Denis, S., Rouleau, G.A., Massie, B., Langelier, Y., and Brais, B.
- Subjects
Genetic research -- Analysis ,Human genetics -- Research ,Muscular dystrophy -- Genetic aspects ,Biological sciences - Published
- 2000
30. Identification of 20 full-length transcripts in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: Candidate genes for ALS2
- Author
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Hadano, S., Yanagisawa, Y., Skaug, J., Fichter, K., Scherer, S.W., Rouleau, G.A., Hayden, M.R., and Ikeda, J.-E.
- Subjects
Genetic research -- Analysis ,Human genetics -- Research ,Sclerosis -- Genetic aspects ,Biological sciences - Published
- 2000
31. Polymorphism of the MPO gene in patients with Stroke and Ischemic Hearth Disease
- Author
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Nikpoor, B. and Rouleau, G.A.
- Subjects
Human genetics -- Research ,Atherosclerosis -- Genetic aspects ,Biological sciences - Published
- 2000
32. The human MJD gene: genomic structure, transcripts, and expression
- Author
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Ichikawa, Y., Goto, J., Hattori, M., Toyoda, A., Ishii, K., Jeong, S.-Y., Hashida, H., Masuda, N., Ogata, K., Suzuki, Y., Sugano, S., Kasai, F., Hirai, M., Maciel, P., Rouleau, G.A., Sakaki, Y., and Kanazawa, I.
- Subjects
Genetic research -- Analysis ,Human genetics -- Research ,Cerebellar ataxia -- Genetic aspects ,Biological sciences - Published
- 2000
33. A homozygous mutation inSLC1A4in siblings with severe intellectual disability and microcephaly
- Author
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Srour, M., primary, Hamdan, F. F., additional, Gan-Or, Z., additional, Labuda, D., additional, Nassif, C., additional, Oskoui, M., additional, Gana-Weisz, M., additional, Orr-Urtreger, A., additional, Rouleau, G.A., additional, and Michaud, J.L., additional
- Published
- 2015
- Full Text
- View/download PDF
34. Familial Spastic Paraplegia and the ALS2 gene
- Author
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Jansen, Anna, Meijer, I., Gros-Louis, F., Macgregor, D.l., Rouleau, G.a., Andermann, Frederick, Andermann, E, Neurology, American Academy Of, and Public Health Care
- Subjects
Neurodegenerative disorder ,Infantile onset ascending hereditary spastic parap ,ALS2 mutations - Abstract
Infantile onset ascending hereditary spastic paraplegia (IAHSP) is an autosomal recessive neurodegenerative disorder with early involvement of corticospinal and corticobulbar pathways and absence of lower motor neuron signs. We present a large consanguineous Pakistani kindred with IAHSP and mild intrafamilial phenotypic variability. Fourteen patients presented with spastic paraplegia in the lower limbs before age 2, extending to the upper limbs by the end of the first decade. Tetraplegia, anarthria and dysphagia developed in the second decade. Disease progression was slow, resulting in death by the fourth decade, with relative sparing of intellectual skills. At age 13, CT, MRI and MRS of the brain, EMG, NCV and BAER in the proband were normal. VER, SSEP and MEP were abnormal. Muscle biopsy showed atrophy of type II-B fibers. A 1bp deletion (4844delT) in exon 32 of the ALS2 gene on chromosome 2q33 cosegregated with the disease. The deletion was located at the beginning of the VPS9 domain, and functional studies demonstrate that absence of a functional VPS9 domain of alsin is sufficient to cause neurodegeneration. The IAHSP phenotype overlaps with complicated HSP, but severe upper arm and bulbar disabilities are generally absent in the latter. ALS2 mutations were originally reported in patients with juvenile ALS (ALS2). However, muscle atrophy, fasciculations or denervation on EMG were rare. Mutations in ALS2 were also found in families with early onset primary lateral sclerosis and phenotypes closely resembling IAHSP. These findings suggest that all patients with mutations in ALS2 have the same disease, rather than IAHSP, ALS2 and juvenile PLS representing 3 different allelic disorders.
- Published
- 2005
35. An 18 Alanine Repeat in a Severe Form of Oculopharyngeal Muscular Dystrophy
- Author
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Jouan, L., primary, Rocheford, D., additional, Szuto, A., additional, Carney, E., additional, David, K., additional, Dion, P.A., additional, and Rouleau, G.A., additional
- Published
- 2014
- Full Text
- View/download PDF
36. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III:Bipolar disorder
- Author
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Segurado, R., Detera-Wadleigh, S.D., Levinson, D.F., Lewis, C.M., Gill, M., Nurnberger, J.I., Craddock, N., DePaulo, J.R., Baron, M., Gershon, E.S., Ekholm, J., Cichon, S., Turecki, G., Claes, S., Kelsoe, J.R., Schofield, P.R., Badenhop, R.F., Morissette, J., Coon, H., Blackwood, D., McInnes, L.A., Foroud, T., Edenberg, H.J., Reich, T., Rice, J.P., Goate, A., McInnis, M.G., McMahon, F.J., Badner, J.A., Goldin, L.R., Bennett, P., Willour, V.L., Zandi, P.P., Liu, J., Gilliam, C., Juo, S.H., Berrettini, W.H., Yoshikawa, T., Peltonen, L., Lonnqvist, J., Nothen, M.M., Schumacher, J., Windemuth, C., Rietschel, M., Propping, P., Maier, W., Alda, M., Grof, P., Rouleau, G.A., Del-Favero, J., Van Broeckhoven, C., Mendlewicz, J., Adolfsson, R., Spence, M.A., Luebbert, H., Adams, L.J., Donald, J.A., Mitchell, P.B., Barden, N., Shink, E., Byerley, W., Muir, W., Visscher, P.M., Macgregor, S., Gurling, H., Kalsi, G., McQuillin, A., Escamilla, M.A., Reus, V.I., Leon, P., Freimer, N.B., Ewald, H., Kruse, T.A., Mors, O., Radhakrishna, U., Blouin, J.L., Antonarakis, S.E., and Akarsu, N.
- Published
- 2003
37. Molecular mechanisms underlying polyalanine diseases
- Author
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Messaed, C., primary and Rouleau, G.A., additional
- Published
- 2009
- Full Text
- View/download PDF
38. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
- Author
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Srour, M., Hamdan, F. F., Gan‐Or, Z., Labuda, D., Nassif, C., Oskoui, M., Gana‐Weisz, M., Orr‐Urtreger, A., Rouleau, G.A., and Michaud, J.L.
- Subjects
GENETIC mutation ,MICROCEPHALY ,INTELLECTUAL disabilities ,SIBLINGS ,GLUTAMATE transporters ,ASHKENAZIM ,GENOMICS ,GENETICS - Abstract
We performed exome analysis in two affected siblings with severe intellectual disability ( ID), microcephaly and spasticity from an Ashkenazi Jewish consanguineous family. We identified only one rare variant, a missense in SLC1A4 (c. 766G>A [p. E256K]), that is homozygous in both siblings but not in any of their 11 unaffected siblings or their parents (Logarithm of odds, LOD score: 2.6). This variant is predicted damaging. We genotyped 450 controls of Ashkenazi Jewish ancestry and identified only 5 individuals who are heterozygous for this variant (minor allele frequency: 0.0056). SLC1A4 ( ASCT1) encodes a transporter for neutral aminoacids such as alanine, serine, cysteine and threonine. l-Serine is essential for neuronal survival and differentiation. Indeed, l-serine biosynthesis disorders affect brain development and cause severe ID. In the brain, l-serine is synthesized in astrocytes but not in neurons. It has been proposed that ASCT1 mediates the uptake of l-serine into neurons and the release of glia-borne l-serine to neighboring cells. SLC1A4 disruption may thus impair brain development and function by decreasing the levels of l-serine in neurons. The identification of additional families with mutations in SLC1A4 would be necessary to confirm its involvement in ID. [ABSTRACT FROM AUTHOR]
- Published
- 2015
- Full Text
- View/download PDF
39. K–Cl cotransport in red blood cells from patients with KCC3 isoform mutantsThis paper is one of a selection of papers published in this Special Issue, entitled CSBMCB — Membrane Proteins in Health and Disease.
- Author
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Lauf, P.K., primary, Adragna, N.C., additional, Dupre, N., additional, Bouchard, J.P., additional, and Rouleau, G.A., additional
- Published
- 2006
- Full Text
- View/download PDF
40. Kinin-dependent hypersensitivity reactions in hemodialysis: Metabolic and genetic factors
- Author
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Molinaro, G., primary, Duan, Q.L., additional, Chagnon, M., additional, Moreau, M.E., additional, Simon, P., additional, Clavel, P., additional, Lavaud, S., additional, Boileau, G., additional, Rouleau, G.A., additional, Lepage, Y., additional, Adam, A., additional, and Chanard, J., additional
- Published
- 2006
- Full Text
- View/download PDF
41. A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy
- Author
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Grewal, K.K., primary, Stefanelli, M.G., additional, Meijer, I.A., additional, Hand, C.K., additional, Rouleau, G.A., additional, and Ives, E.J., additional
- Published
- 2004
- Full Text
- View/download PDF
42. Restless legs in Tourette syndrome
- Author
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Lespérance, P., primary, Djerroud, N., additional, Diaz Anzaldua, A., additional, Rouleau, G.A., additional, Chouinard, S., additional, and Richer, F., additional
- Published
- 2004
- Full Text
- View/download PDF
43. S.22.04 Neurobiology of treatment response in affective disorders
- Author
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Alda, M., primary, Grof, P., additional, Rouleau, G.A., additional, Turecki, G., additional, and Young, L.T., additional
- Published
- 2003
- Full Text
- View/download PDF
44. Suicide and serotonin: Study of variation at seven serotonin receptor genes in suicide completers
- Author
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Turecki, G., primary, Sequeira, A., additional, Gingras, Y., additional, Séguin, M., additional, Lesage, A., additional, Tousignant, M., additional, Chawky, N., additional, Vanier, C., additional, Lipp, O., additional, Benkelfat, C., additional, and Rouleau, G.A., additional
- Published
- 2002
- Full Text
- View/download PDF
45. Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
- Author
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Zhao, Y., primary, Kumar, R.A., additional, Baser, M.E., additional, Evans, D.G.R., additional, Wallace, A., additional, Kluwe, L., additional, Mautner, V.F., additional, Parry, D.M., additional, Rouleau, G.A., additional, Joe, H., additional, and Friedman, J.M., additional
- Published
- 2002
- Full Text
- View/download PDF
46. Reply to Kock et al.
- Author
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Desautels, A., primary, Turecki, G., additional, Montplaisir, J., additional, and Rouleau, G.A., additional
- Published
- 2002
- Full Text
- View/download PDF
47. A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13
- Author
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Meijer, I.A., primary, Hand, C.K., additional, Grewal, K.K., additional, Stefanelli, M.G., additional, Ives, E.J., additional, and Rouleau, G.A., additional
- Published
- 2002
- Full Text
- View/download PDF
48. Dopaminergic neurotransmission and restless legs syndrome: A genetic association analysis
- Author
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Desautels, A., primary, Turecki, G., additional, Montplaisir, J., additional, Ftouhi-Paquin, N., additional, Michaud, M., additional, Chouinard, V.A., additional, and Rouleau, G.A., additional
- Published
- 2001
- Full Text
- View/download PDF
49. CCM1 gene mutations in families segregating cerebral cavernous malformations
- Author
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Davenport, W.J., primary, Siegel, A.M., additional, Dichgans, J., additional, Drigo, P., additional, Mammi, I., additional, Pereda, P., additional, Wood, N.W., additional, and Rouleau, G.A., additional
- Published
- 2001
- Full Text
- View/download PDF
50. Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study
- Author
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Gaspar, C., primary, Lopes-Cendes, I., additional, Hayes, S., additional, Goto, J., additional, Arvidsson, K., additional, Dias, A., additional, Silveira, I., additional, Maciel, P., additional, Coutinho, P., additional, Lima, M., additional, Zhou, Y.-X., additional, Soong, B.-W., additional, Watanabe, M., additional, Giunti, P., additional, Stevanin, G., additional, Riess, O., additional, Sasaki, H., additional, Hsieh, M., additional, Nicholson, G.A., additional, Brunt, E., additional, Higgins, J.J., additional, Lauritzen, M., additional, Tranebjaerg, L., additional, Volpini, V., additional, Wood, N., additional, Ranum, L., additional, Tsuji, S., additional, Brice, A., additional, Sequeiros, J., additional, and Rouleau, G.A., additional
- Published
- 2001
- Full Text
- View/download PDF
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