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125 results on '"Meijer, Inge"'

1. Clinical course, imaging, and pathological features of 45 adult and pediatric cases of myelin oligodendrocyte glycoprotein antibody-associated disease

Author

Boudjani, Hayet, Fadda, Giulia, Dufort, Gabrielle, Antel, Jack, Giacomini, Paul, Levesque-Roy, Myriam, Oskoui, Maryam, Duquette, Pierre, Prat, Alexandre, Girard, Marc, Rebillard, Rose-Marie, Meijer, Inge, Pinchefsky, Elana, Nguyen, Cam-Tu Emilie, Rossignol, Elsa, Rouleau, Jacinthe, Blanchard, Oliver, Khairallah, Nicole, Beauchemin, Philippe, Trudelle, Anne-Marie, Lapointe, Emmanuelle, Saveriano, Alexander, and Larochelle, Catherine

Published
2023
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5. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Author

Lee, Phil H., Anttila, Verneri, Won, Hyejung, Feng, Yen-Chen A., Rosenthal, Jacob, Zhu, Zhaozhong, Tucker-Drob, Elliot M., Nivard, Michel G., Grotzinger, Andrew D., Posthuma, Danielle, Wang, Meg M.-J., Yu, Dongmei, Stahl, Eli A., Walters, Raymond K., Anney, Richard J.L., Duncan, Laramie E., Ge, Tian, Adolfsson, Rolf, Banaschewski, Tobias, Belangero, Sintia, Cook, Edwin H., Coppola, Giovanni, Derks, Eske M., Hoekstra, Pieter J., Kaprio, Jaakko, Keski-Rahkonen, Anna, Kirov, George, Kranzler, Henry R., Luykx, Jurjen J., Rohde, Luis A., Zai, Clement C., Agerbo, Esben, Arranz, M.J., Asherson, Philip, Bækvad-Hansen, Marie, Baldursson, Gísli, Bellgrove, Mark, Belliveau, Richard A., Jr., Buitelaar, Jan, Burton, Christie L., Bybjerg-Grauholm, Jonas, Casas, Miquel, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Cormand, Bru, Crosbie, Jennifer, Dalsgaard, Søren, Demontis, Ditte, Doyle, Alysa E., Dumont, Ashley, Elia, Josephine, Grove, Jakob, Gudmundsson, Olafur O., Haavik, Jan, Hakonarson, Hakon, Hansen, Christine S., Hartman, Catharina A., Hawi, Ziarih, Hervás, Amaia, Hougaard, David M., Howrigan, Daniel P., Huang, Hailiang, Kuntsi, Jonna, Langley, Kate, Lesch, Klaus-Peter, Leung, Patrick W.L., Loo, Sandra K., Martin, Joanna, Martin, Alicia R., McGough, James J., Medland, Sarah E., Moran, Jennifer L., Mors, Ole, Mortensen, Preben B., Oades, Robert D., Palmer, Duncan S., Pedersen, Carsten B., Pedersen, Marianne G., Peters, Triinu, Poterba, Timothy, Poulsen, Jesper B., Ramos-Quiroga, Josep Antoni, Reif, Andreas, Ribasés, Marta, Rothenberger, Aribert, Rovira, Paula, Sánchez-Mora, Cristina, Satterstrom, F. Kyle, Schachar, Russell, Artigas, Maria Soler, Steinberg, Stacy, Stefansson, Hreinn, Turley, Patrick, Walters, G. Bragi, Werge, Thomas, Zayats, Tetyana, Arking, Dan E., Bettella, Francesco, Buxbaum, Joseph D., Christensen, Jane H., Collins, Ryan L., Coon, Hilary, De Rubeis, Silvia, Delorme, Richard, Grice, Dorothy E., Hansen, Thomas F., Holmans, Peter A., Hope, Sigrun, Hultman, Christina M., Klei, Lambertus, Ladd-Acosta, Christine, Magnusson, Pall, Nærland, Terje, Nyegaard, Mette, Pinto, Dalila, Qvist, Per, Rehnström, Karola, Reichenberg, Abraham, Reichert, Jennifer, Roeder, Kathryn, Rouleau, Guy A., Saemundsen, Evald, Sanders, Stephan J., Sandin, Sven, St Pourcain, Beate, Stefansson, Kari, Sutcliffe, James S., Talkowski, Michael E., Weiss, Lauren A., Willsey, A. Jeremy, Agartz, Ingrid, Akil, Huda, Albani, Diego, Alda, Martin, Als, Thomas D., Anjorin, Adebayo, Backlund, Lena, Bass, Nicholas, Bauer, Michael, Baune, Bernhard T., Bellivier, Frank, Bergen, Sarah E., Berrettini, Wade H., Biernacka, Joanna M., Blackwood, Douglas H.R., Bøen, Erlend, Budde, Monika, Bunney, William, Burmeister, Margit, Byerley, William, Byrne, Enda M., Cichon, Sven, Clarke, Toni-Kim, Coleman, Jonathan R.I., Craddock, Nicholas, Curtis, David, Czerski, Piotr M., Dale, Anders M., Dalkner, Nina, Dannlowski, Udo, Degenhardt, Franziska, Di Florio, Arianna, Elvsåshagen, Torbjørn, Etain, Bruno, Fischer, Sascha B., Forstner, Andreas J., Forty, Liz, Frank, Josef, Frye, Mark, Fullerton, Janice M., Gade, Katrin, Gaspar, Héléna A., Gershon, Elliot S., Gill, Michael, Goes, Fernando S., Gordon, Scott D., Gordon-Smith, Katherine, Green, Melissa J., Greenwood, Tiffany A., Grigoroiu-Serbanescu, Maria, Guzman-Parra, José, Hauser, Joanna, Hautzinger, Martin, Heilbronner, Urs, Herms, Stefan, Hoffmann, Per, Holland, Dominic, Jamain, Stéphane, Jones, Ian, Jones, Lisa A., Kandaswamy, Radhika, Kelsoe, John R., Kennedy, James L., Joachim, Oedegaard Ketil, Kittel-Schneider, Sarah, Kogevinas, Manolis, Koller, Anna C., Lavebratt, Catharina, Lewis, Cathryn M., Li, Qingqin S., Lissowska, Jolanta, Loohuis, Loes M.O., Lucae, Susanne, Maaser, Anna, Malt, Ulrik F., Martin, Nicholas G., Martinsson, Lina, McElroy, Susan L., McMahon, Francis J., McQuillin, Andrew, Melle, Ingrid, Metspalu, Andres, Millischer, Vincent, Mitchell, Philip B., Montgomery, Grant W., Morken, Gunnar, Morris, Derek W., Müller-Myhsok, Bertram, Mullins, Niamh, Myers, Richard M., Nievergelt, Caroline M., Nordentoft, Merete, Adolfsson, Annelie Nordin, Nöthen, Markus M., Ophoff, Roel A., Owen, Michael J., Paciga, Sara A., Pato, Carlos N., Pato, Michele T., Perlis, Roy H., Perry, Amy, Potash, James B., Reinbold, Céline S., Rietschel, Marcella, Rivera, Margarita, Roberson, Mary, Schalling, Martin, Schofield, Peter R., Schulze, Thomas G., Scott, Laura J., Serretti, Alessandro, Sigurdsson, Engilbert, Smeland, Olav B., Stordal, Eystein, Streit, Fabian, Strohmaier, Jana, Thorgeirsson, Thorgeir E., Treutlein, Jens, Turecki, Gustavo, Vaaler, Arne E., Vieta, Eduard, Vincent, John B., Wang, Yunpeng, Witt, Stephanie H., Zandi, Peter, Adan, Roger A.H., Alfredsson, Lars, Ando, Tetsuya, Aschauer, Harald, Baker, Jessica H., Bencko, Vladimir, Bergen, Andrew W., Birgegård, Andreas, Perica, Vesna Boraska, Brandt, Harry, Burghardt, Roland, Carlberg, Laura, Cassina, Matteo, Clementi, Maurizio, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, James J., Danner, Unna N., Davis, Oliver S.P., Degortes, Daniela, DeSocio, Janiece E., Dick, Danielle M., Dina, Christian, Docampo, Elisa, Egberts, Karin, Ehrlich, Stefan, Espeseth, Thomas, Fernández-Aranda, Fernando, Fichter, Manfred M., Foretova, Lenka, Forzan, Monica, Gambaro, Giovanni, Giegling, Ina, Gonidakis, Fragiskos, Gorwood, Philip, Mayora, Monica Gratacos, Guo, Yiran, Halmi, Katherine A., Hatzikotoulas, Konstantinos, Hebebrand, Johannes, Helder, Sietske G., Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Imgart, Hartmut, Jiménez-Murcia, Susana, Johnson, Craig, Jordan, Jennifer, Julià, Antonio, Kaminská, Deborah, Karhunen, Leila, Karwautz, Andreas, Kas, Martien J.H., Kaye, Walter H., Kennedy, Martin A., Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly L., Knudsen, Gun Peggy S., Landén, Mikael, Le Hellard, Stephanie, Levitan, Robert D., Li, Dong, Lichtenstein, Paul, Maj, Mario, Marsal, Sara, McDevitt, Sara, Mitchell, James, Monteleone, Palmiero, Monteleone, Alessio Maria, Munn-Chernoff, Melissa A., Nacmias, Benedetta, Navratilova, Marie, O’Toole, Julie K., Padyukov, Leonid, Pantel, Jacques, Papezova, Hana, Rabionet, Raquel, Raevuori, Anu, Ramoz, Nicolas, Reichborn-Kjennerud, Ted, Ricca, Valdo, Roberts, Marion, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Schmidt, Ulrike, Seitz, Jochen, Slachtova, Lenka, Slof-Op‘t Landt, Margarita C.T., Slopien, Agnieszka, Sorbi, Sandro, Southam, Lorraine, Strober, Michael, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tziouvas, Konstantinos, van Elburg, Annemarie A., Wade, Tracey D., Wagner, Gudrun, Walton, Esther, Watson, Hunna J., Wichmann, H-Erich, Woodside, D. Blake, Zeggini, Eleftheria, Zerwas, Stephanie, Zipfel, Stephan, Adams, Mark J., Andlauer, Till F.M., Berger, Klaus, Binder, Elisabeth B., Boomsma, Dorret I., Castelao, Enrique, Colodro-Conde, Lucía, Direk, Nese, Docherty, Anna R., Domenici, Enrico, Domschke, Katharina, Dunn, Erin C., Foo, Jerome C., de. Geus, E.J.C., Grabe, Hans J., Hamilton, Steven P., Horn, Carsten, Hottenga, Jouke-Jan, Howard, David, Ising, Marcus, Kloiber, Stefan, Levinson, Douglas F., Lewis, Glyn, Magnusson, Patrik K.E., Mbarek, Hamdi, Middeldorp, Christel M., Mostafavi, Sara, Nyholt, Dale R., Penninx, Brenda WJH., Peterson, Roseann E., Pistis, Giorgio, Porteous, David J., Preisig, Martin, Quiroz, Jorge A., Schaefer, Catherine, Schulte, Eva C., Shi, Jianxin, Smith, Daniel J., Thomson, Pippa A., Tiemeier, Henning, Uher, Rudolf, van der Auwera, Sandra, Weissman, Myrna M., Alexander, Madeline, Begemann, Martin, Bramon, Elvira, Buccola, Nancy G., Cairns, Murray J., Campion, Dominique, Carr, Vaughan J., Cloninger, C. Robert, Cohen, David, Collier, David A., Corvin, Aiden, DeLisi, Lynn E., Donohoe, Gary, Dudbridge, Frank, Duan, Jubao, Freedman, Robert, Gejman, Pablo V., Golimbet, Vera, Godard, Stephanie, Ehrenreich, Hannelore, Hartmann, Annette M., Henskens, Frans A., Ikeda, Masashi, Iwata, Nakao, Jablensky, Assen V., Joa, Inge, Jönsson, Erik G., Kelly, Brian J., Knight, Jo, Konte, Bettina, Laurent-Levinson, Claudine, Lee, Jimmy, Lencz, Todd, Lerer, Bernard, Loughland, Carmel M., Malhotra, Anil K., Mallet, Jacques, McDonald, Colm, Mitjans, Marina, Mowry, Bryan J., Murphy, Kieran C., Murray, Robin M., O’Neill, F. Anthony, Oh, Sang-Yun, Palotie, Aarno, Pantelis, Christos, Pulver, Ann E., Petryshen, Tracey L., Quested, Digby J., Riley, Brien, Sanders, Alan R., Schall, Ulrich, Schwab, Sibylle G., Scott, Rodney J., Sham, Pak C., Silverman, Jeremy M., Sim, Kang, Steixner, Agnes A., Tooney, Paul A., van Os, Jim, Vawter, Marquis P., Walsh, Dermot, Weiser, Mark, Wildenauer, Dieter B., Williams, Nigel M., Wormley, Brandon K., Zhang, Fuquan, Androutsos, Christos, Arnold, Paul D., Barr, Cathy L., Barta, Csaba, Bey, Katharina, Bienvenu, O. Joseph, Black, Donald W., Brown, Lawrence W., Budman, Cathy, Cath, Danielle, Cheon, Keun-Ah, Ciullo, Valentina, Coffey, Barbara J., Cusi, Daniele, Davis, Lea K., Denys, Damiaan, Depienne, Christel, Dietrich, Andrea, Eapen, Valsamma, Falkai, Peter, Fernandez, Thomas V., Garcia-Delgar, Blanca, Geller, Daniel A., Gilbert, Donald L., Grados, Marco A., Greenberg, Erica, Grünblatt, Edna, Hagstrøm, Julie, Hanna, Gregory L., Hartmann, Andreas, Hedderly, Tammy, Heiman, Gary A., Heyman, Isobel, Hong, Hyun Ju, Huang, Alden, Huyser, Chaim, Ibanez-Gomez, Laura, Khramtsova, Ekaterina A., Kim, Young Key, Kim, Young-Shin, King, Robert A., Koh, Yun-Joo, Konstantinidis, Anastasios, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Lochner, Christine, Ludolph, Andrea G., Madruga-Garrido, Marcos, Malaty, Irene, Maras, Athanasios, McCracken, James T., Meijer, Inge A., Mir, Pablo, Morer, Astrid, Müller-Vahl, Kirsten R., Münchau, Alexander, Murphy, Tara L., Naarden, Allan, Nagy, Peter, Nestadt, Gerald, Nestadt, Paul S., Nicolini, Humberto, Nurmi, Erika L., Okun, Michael S., Paschou, Peristera, Piras, Fabrizio, Piras, Federica, Pittenger, Christopher, Plessen, Kerstin J., Richter, Margaret A., Rizzo, Renata, Robertson, Mary, Roessner, Veit, Ruhrmann, Stephan, Samuels, Jack F., Sandor, Paul, Schlögelhofer, Monika, Shin, Eun-Young, Singer, Harvey, Song, Dong-Ho, Song, Jungeun, Spalletta, Gianfranco, Stein, Dan J., Stewart, S Evelyn, Storch, Eric A., Stranger, Barbara, Stuhrmann, Manfred, Tarnok, Zsanett, Tischfield, Jay A., Tübing, Jennifer, Visscher, Frank, Vulink, Nienke, Wagner, Michael, Walitza, Susanne, Wanderer, Sina, Woods, Martin, Worbe, Yulia, Zai, Gwyneth, Zinner, Samuel H., Sullivan, Patrick F., Franke, Barbara, Daly, Mark J., Bulik, Cynthia M., McIntosh, Andrew M., O’Donovan, Michael C., Zheutlin, Amanda, Andreassen, Ole A., Børglum, Anders D., Breen, Gerome, Edenberg, Howard J., Fanous, Ayman H., Faraone, Stephen V., Gelernter, Joel, Mathews, Carol A., Mattheisen, Manuel, Mitchell, Karen S., Neale, Michael C., Nurnberger, John I., Ripke, Stephan, Santangelo, Susan L., Scharf, Jeremiah M., Stein, Murray B., Thornton, Laura M., Walters, James T.R., Wray, Naomi R., Geschwind, Daniel H., Neale, Benjamin M., Kendler, Kenneth S., and Smoller, Jordan W.

Published
2019
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9. 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

10. The genetic landscape of infantile spasms

Author

Michaud, Jacques L., Lachance, Mathieu, Hamdan, Fadi F., Carmant, Lionel, Lortie, Anne, Diadori, Paola, Major, Philippe, Meijer, Inge A., Lemyre, Emmanuelle, Cossette, Patrick, Mefford, Heather C., Rouleau, Guy A., and Rossignol, Elsa

Published
2014
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13. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

Author

Valdmanis, Paul N., Meijer, Inge A., Reynolds, Annie, Lei, Adrienne, Macleod, Patrick, Schlesinger, David, Zatz, Mayana, Reid, Evan, Dion, Patrick A., Drapeau, Pierre, and Rouleau, Guy A.

Subjects
Paralysis, Spastic -- Research, Paralysis, Spastic -- Genetic aspects, Gene mutations -- Research, DNA microarrays -- Structure, DNA microarrays -- Research, Biological sciences
Abstract

A study identified three mutations such as V626F, L619F and N471D in the KIAA0196 gene in six families that map to the eighth hereditary spastic paraplegia (HSP) locus, SPG8. Results reveal that none of these are identified in 500 control individuals but L619 and V626 residues are strictly conserved across species and have notable effect on the protein product strumpellin.

Published
2007

14. A variant in XPNPEP2 is associated with angioedema induced by angiotensin I--converting enzyme inhibitors

Author

Duan, Qing Ling, Nikpoor, Borzoo, Dube, Marie-Pierre, Molinaro, Giuseppe, Meijer, Inge A., Dion, Patrick, Rochefort, Daniel, Saint-Onge, Judith, Flury, Leah, Brown, Nancy J., Gainer, James V., Rouleau, Jean L., Agostoni, Angelo, Cugno, Massimo, Simon, Pierre, Clavel, Pierre, Potier, Jacky, Wehbe, Bassem, Benarbia, Seddik, Marc-Aurele, Julien, Chanard, Jacques, Foroud, Tatiana, Adam, Albert, and Rouleau, Guy A.

Subjects
ACE inhibitors -- Research, ACE inhibitors -- Statistics, ACE inhibitors -- Complications and side effects, Biological sciences
Published
2005

15. Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Author

Giorgio, Elisa, Rolyan, Harshvardhan, Kropp, Laura, Chakka, Anish Baswanth, Yatsenko, Svetlana, Gregorio, Eleonora Di, Lacerenza, Daniela, Vaula, Giovanna, Talarico, Flavia, Mandich, Paola, Toro, Camilo, Pierre, Eleonore Eymard, Labauge, Pierre, Capellari, Sabina, Cortelli, Pietro, Vairo, Filippo Pinto, Miguel, Diego, Stubbolo, Danielle, Marques, Lourenco Charles, Gahl, William, Boespflug-Tanguy, Odile, Melberg, Atle, Hassin-Baer, Sharon, Cohen, Oren S., Pjontek, Rastislav, Grau, Armin, Klopstock, Thomas, Fogel, Brent, Meijer, Inge, Rouleau, Guy, Bouchard, Jean-Pierre L., Ganapathiraju, Madhavi, Vanderver, Adeline, Dahl, Niklas, Hobson, Grace, Brusco, Alfredo, Brussino, Alessandro, and Padiath, Quasar Saleem

Published
2013
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16. EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

Author

Kuipers, Demy J. S., primary, Mandemakers, Wim, additional, Lu, Chin‐Song, additional, Olgiati, Simone, additional, Breedveld, Guido J., additional, Fevga, Christina, additional, Tadic, Vera, additional, Carecchio, Miryam, additional, Osterman, Bradley, additional, Sagi‐Dain, Lena, additional, Wu‐Chou, Yah‐Huei, additional, Chen, Chiung C., additional, Chang, Hsiu‐Chen, additional, Wu, Shey‐Lin, additional, Yeh, Tu‐Hsueh, additional, Weng, Yi‐Hsin, additional, Elia, Antonio E., additional, Panteghini, Celeste, additional, Marotta, Nicolas, additional, Pauly, Martje G., additional, Kühn, Andrea A., additional, Volkmann, Jens, additional, Lace, Baiba, additional, Meijer, Inge A., additional, Kandaswamy, Krishna, additional, Quadri, Marialuisa, additional, Garavaglia, Barbara, additional, Lohmann, Katja, additional, Bauer, Peter, additional, Mencacci, Niccolò E., additional, Lubbe, Steven J., additional, Klein, Christine, additional, Bertoli‐Avella, Aida M., additional, and Bonifati, Vincenzo, additional

Published
2020
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17. Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor

Author

Liao, Calwing, primary, Akçimen, Fulya, additional, Diez-Fairen, Monica, additional, Houle, Gabrielle, additional, Ross, Jay P, additional, Schmilovich, Zoe, additional, Spiegelman, Dan, additional, Vuokila, Veikko, additional, Catoire, Hélène, additional, Meijer, Inge A, additional, Pastor, Pau, additional, Rajput, Alex, additional, Dion, Patrick A, additional, and Rouleau, Guy A, additional

Published
2020
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20. A stop codon mutation in SCN9A causes lack of pain sensation

Author

Ahmad, Sultan, Dahllund, Leif, Eriksson, Anders B., Hellgren, Dennis, Karlsson, Urban, Lund, Per-Eric, Meijer, Inge A., Meury, Luc, Mills, Tracy, Moody, Adrian, Morinville, Anne, Morten, John, O'Donnell, Dajan, Raynoschek, Carina, Salter, Hugh, Rouleau, Guy A., and Krupp, Johannes J.

Published
2007

21. Linkage to a Known Gene But No Mutation Identified: Comprehensive Reanalysis of SPG4 HSP Pedigrees Reveals Large Deletions as the Sole Cause

Author

Beetz, Christian, Zuchner, Stephan, Ashley-Koch, Allison, Auer-Grumbach, Michaela, Byrne, Paula, Chinnery, Patrick F., Hutchinson, Michael, McDermott, Christopher J., Meijer, Inge A., Nygren, Anders O.H., Pericak-Vance, Margaret, Pyle, Angela, Rouleau, Guy A., Schickel, Jörg, Shaw, Pamela J., and Deufel, Thomas

Published
2007
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24. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

Author

Lüthy, Kevin, primary, Mei, Davide, additional, Fischer, Baptiste, additional, De Fusco, Maurizio, additional, Swerts, Jef, additional, Paesmans, Jone, additional, Parrini, Elena, additional, Lubarr, Naomi, additional, Meijer, Inge A, additional, Mackenzie, Katherine M, additional, Lee, Wang-Tso, additional, Cittaro, Davide, additional, Aridon, Paolo, additional, Schoovaerts, Nils, additional, Versées, Wim, additional, Verstreken, Patrik, additional, Casari, Giorgio, additional, and Guerrini, Renzo, additional

Published
2019
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25. Recessive mutations in VPS13D cause childhood onset movement disorders

Author

Gauthier, Julie, primary, Meijer, Inge A., additional, Lessel, Davor, additional, Mencacci, Niccolò E., additional, Krainc, Dimitri, additional, Hempel, Maja, additional, Tsiakas, Konstantinos, additional, Prokisch, Holger, additional, Rossignol, Elsa, additional, Helm, Margaret H., additional, Rodan, Lance H., additional, Karamchandani, Jason, additional, Carecchio, Miryam, additional, Lubbe, Steven J., additional, Telegrafi, Aida, additional, Henderson, Lindsay B., additional, Lorenzo, Kerry, additional, Wallace, Stephanie E., additional, Glass, Ian A., additional, Hamdan, Fadi F., additional, Michaud, Jacques L., additional, Rouleau, Guy A., additional, and Campeau, Philippe M., additional

Published
2018
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31. Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Author

Giorgio, Elisa, primary, Rolyan, Harshvardhan, additional, Kropp, Laura, additional, Chakka, Anish Baswanth, additional, Yatsenko, Svetlana, additional, Gregorio, Eleonora Di, additional, Lacerenza, Daniela, additional, Vaula, Giovanna, additional, Talarico, Flavia, additional, Mandich, Paola, additional, Toro, Camilo, additional, Pierre, Eleonore Eymard, additional, Labauge, Pierre, additional, Capellari, Sabina, additional, Cortelli, Pietro, additional, Vairo, Filippo Pinto, additional, Miguel, Diego, additional, Stubbolo, Danielle, additional, Marques, Lourenco Charles, additional, Gahl, William, additional, Boespflug-Tanguy, Odile, additional, Melberg, Atle, additional, Hassin-Baer, Sharon, additional, Cohen, Oren S., additional, Pjontek, Rastislav, additional, Grau, Armin, additional, Klopstock, Thomas, additional, Fogel, Brent, additional, Meijer, Inge, additional, Rouleau, Guy, additional, Bouchard, Jean-Pierre L., additional, Ganapathiraju, Madhavi, additional, Vanderver, Adeline, additional, Dahl, Niklas, additional, Hobson, Grace, additional, Brusco, Alfredo, additional, Brussino, Alessandro, additional, and Padiath, Quasar Saleem, additional

Published
2013
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34. A VAMP1 Mutation Causes Chromosome 12p13 Hereditary Spastic Ataxia in Newfoundland Families (S43.002)

Author

Meijer, Inge, primary, Bourassa, Cynthia, additional, Merner, Nancy, additional, Grewal, Kanwal, additional, Stefanelli, Mark, additional, Hodgkinson, Kathleen, additional, Ives, Elizabeth, additional, Pryse-Phillips, William, additional, Jog, Mandar, additional, Boycott, Kym, additional, Grimes, David, additional, Goobie, Sharan, additional, Leckey, Richard, additional, Dion, Patrick, additional, and Rouleau, Guy, additional

Published
2013
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35. CSCI/RCPSC Henry Friesen Lecture: The Past and the Future of Neurogenetics

Author

Rouleau, Guy, Meijer, Inge, Rouleau, Guy, and Meijer, Inge

Abstract

“To wrest from nature the secrets which have perplexed philosophers in all ages, to track to their sources the cause of disease … these are our ambitions” - Sir William Osler The main aim in neurogenetics is to characterize and understand the genetic causes underlying neurological diseases. Over time, progress has been made in several aspects of neurogenetics. In fact, the evolution of neurogenetics largely resembles the steps currently undertaken when executing a neurogenetics study. These steps include identification of a disease in a family, clinical description and characterization of the family, genetic analysis, and finally understanding the function of the causative gene. Along those lines, the evolution of neurogenetics could be divided in four eras namely the descriptive, the medical technological, the molecular genetics and the personalized medicine era.

Published
2007

38. Characterization of a novel SPG3A deletion in a French‐Canadian family

Author

Meijer, Inge A., primary, Dion, Patrick, additional, Laurent, Sandra, additional, Dupré, Nicolas, additional, Brais, Bernard, additional, Levert, Annie, additional, Puymirat, Jacques, additional, Rioux, Marie France, additional, Sylvain, Michel, additional, Zhu, Peng‐Peng, additional, Soderblom, Cynthia, additional, Stadler, Julia, additional, Blackstone, Craig, additional, and Rouleau, Guy A., additional

Published
2007
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39. Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

Author

Beetz, Christian, primary, Zuchner, Stephan, additional, Ashley-Koch, Allison, additional, Auer-Grumbach, Michaela, additional, Byrne, Paula, additional, Chinnery, Patrick F., additional, Hutchinson, Michael, additional, McDermott, Christopher J., additional, Meijer, Inge A., additional, Nygren, Anders O.H., additional, Pericak-Vance, Margaret, additional, Pyle, Angela, additional, Rouleau, Guy A., additional, Schickel, Jörg, additional, Shaw, Pamela J., additional, and Deufel, Thomas, additional

Published
2007
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40. Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

Author

Dion, Patrick, primary, Shanmugam, Vijayalakshmi, additional, Gaspar, Claudia, additional, Messaed, Christiane, additional, Meijer, Inge, additional, Toulouse, André, additional, Laganiere, Janet, additional, Roussel, Julie, additional, Rochefort, Daniel, additional, Laganiere, Simon, additional, Allen, Carol, additional, Karpati, George, additional, Bouchard, Jean-Pierre, additional, Brais, Bernard, additional, and Rouleau, Guy A., additional

Published
2005
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42. An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

Author

Gros‐Louis, François, primary, Meijer, Inge A., additional, Hand, Collette K., additional, Dubé, Marie‐Pierre, additional, MacGregor, Daune L., additional, Seni, Marie‐Hélène, additional, Devon, Rebecca S., additional, Hayden, Michael R., additional, Andermann, Frederick, additional, Andermann, Eva, additional, and Rouleau, Guy A., additional

Published
2002
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43. The Past and the Future of Neurogenetics.

Author

Rouleau, Guy and Meijer, Inge

Subjects
*NEUROGENETICS, *NEUROSCIENCES, *NEUROLOGICAL disorders, *NEUROLOGY, *GENETICS
Abstract

The article presents information on neurogenetics. The main aim in neurogenetics is to characterize and understand the genetic causes behind neurological diseases. The evolution of neurogenetics could be divided in four eras namely the descriptive, the medical technological, the molecular genetics and the personalized medicine era. It is expected to develop better treatments for neurological diseases based on the understanding of the pathophysiology of neurogenetic diseases in the future.

Published
2007
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44. SPG4 Mutations in a Large Collection of North American Families With Hereditary Spastic Paraplegia.

Author

Meijer, Inge A., Hand, Collette K., Cossette, P., Figlewicz, Denise A., and Rouleau, Guy A.

Subjects
PARAPLEGIA, SPASTICITY, FAMILIAL diseases, MEDICAL genetics
Abstract

Background: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by progressive spasticity and weakness of the lower limbs. The most common form of HSP is caused by mutations in the SPG4 gene, which codes for spastin, an adenosine triphosphatase with various cellular activities (AAA) protein family member. Objective: To investigate a large collection of predominantly North American patients with HSP for mutations in the spastin encoding gene, SPG4. Methods: DNA from 76 unrelated affected individuals was studied for mutations by single-stranded conformational polymorphism analysis and direct sequencing. Each new variant identified was then analyzed in 80 control subjects to determine whether the variant is a common polymorphism or a rare mutation. All DNA samples were amplified by polymerase chain reaction, followed by electrophoresis and autoradiography. Results: We identified 8 novel mutations and 5 previously reported mutations in 15 affected individuals. The novel mutations are 4 missense, 1 nonsense, 1 frameshift, and 2 splice mutations. Two polymorphisms (one in an affected individual) were also identified. Conclusions: Our collection of families with HSP is different on a genetic level from those previously described. The percentage of our families with a SPG4 mutation is 10% lower than the 40% estimate of families with autosomal dominant HSP noted to be linked to this locus, and splice mutations are not predominant in our collection. Interestingly, we also identified 2 recurring mutations in specific populations (R562Q and G559D), which may facilitate the development of future spastin diagnostic testing in these populations. [ABSTRACT FROM AUTHOR]

Published
2002
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45. Deep Brain Stimulation in an Additional Patient With ADCY5-Related Movement Disorder.

Author

Meijer, Inge A., Miravite, Joan, Kopell, Brian H., and Lubarr, Naomi

Subjects
*DEEP brain stimulation, *MOVEMENT disorders, *TREATMENT of dystonia, *PATIENTS
Abstract

A letter to the editor is presented in response to the article "Treatment of ADCY5- associated dystonia, chorea, and hyperkinetic disorders with deep brain stimulation: a multicenter case series," by M. E. Dy and colleagues in the 2016 issue.

Published
2017
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48. A Variant in XPNPEP2 Is Associated with Angioedema Induced by Angiotensin I--Converting Enzyme Inhibitors.

Author

Qing Ling Duan, Nikpoor, Borzoo, Dubé, Marie-Pierre, Molinaro, Giuseppe, Meijer, Inge A., Dion, Patrick, Rochefort, Daniel, Saint-Onge, Judith, Flury, Leah, Brown, Nancy J., Gainer, James V., Rouleau, Jean L., Agostoni, Angelo, Cugno, Massimo, Simon, Pierre, Clavel, Pierre, Potier, Jacky, Wehbe, Bassem, Benarbia, Seddik, and Marc-Aurèle, Julien

Subjects
*CARDIOVASCULAR diseases, *ANGIONEUROTIC edema, *ANGIOTENSIN converting enzyme, *GENETIC mutation, *OLIGOPEPTIDES, *GENETIC research
Abstract

Angiotensin I-converting enzyme inhibitors (ACEi), which are used to treat common cardiovascular diseases, are associated with a potentially life-threatening adverse reaction known as angioedema (AE-ACEi). We have previously documented a significant association between AE-ACEi and low plasma aminopeptidase P (APP) activity. With eight large pedigrees, we hereby demonstrate that this quantitative trait is partially regulated by genetic factors. We tested APP activity using a variance-component QTL analysis of a 10-cM genomewide microsatellite scan enriched with seven markers over two candidate regions. We found significant linkage (LOD = 3.75) to a locus that includes the XPNPEP2 candidate gene encoding membrane-bound APR Mutation screening of this QTL identified a large coding deletion segregating in one pedigree and an upstream single-nucleotide polymorphism (C- 2399A SNP), which segregates in the remaining seven pedigrees. Measured genotype analysis strongly suggests that the linkage signal for APP activity at this locus is accounted for predominantly by the SNP association. In a separate case-control study (20 cases and 60 controls), we found significant association of this SNP to ACEi-induced AE (P = .0364). In conclusion, our findings provide supporting evidence that the C-2399A variant in XPNPEP2 is associated with reduced APP activity and a higher incidence of AE-ACEi. [ABSTRACT FROM AUTHOR]

Published
2005
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49. Transgenic expression of an expanded (GCG)13 repeat PABPN1 leads to weakness and coordination defects in mice

Author

Dion, Patrick, Shanmugam, Vijayalakshmi, Gaspar, Claudia, Messaed, Christiane, Meijer, Inge, Toulouse, André, Laganiere, Janet, Roussel, Julie, Rochefort, Daniel, Laganiere, Simon, Allen, Carol, Karpati, George, Bouchard, Jean-Pierre, Brais, Bernard, and Rouleau, Guy A.

Subjects
*MUSCULAR dystrophy, *NEUROMUSCULAR diseases, *NEURONS, *DYSTROPHY
Abstract

Abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disorder caused by a (GCG)n trinucleotide repeat expansion in the poly(A) binding protein nuclear-1 (PABPN1) gene, which in turn leads to an expanded polyalanine tract in the protein. We generated transgenic mice expressing either the wild type or the expanded form of human PABPN1, and transgenic animals with the expanded form showed clear signs of abnormal limb clasping, muscle weakness, coordination deficits, and peripheral nerves alterations. Analysis of mitotic and postmitotic tissues in those transgenic animals revealed ubiquitinated PABPN1-positive intranuclear inclusions (INIs) in neuronal cells. This latter observation led us to test and confirm the presence of similar INIs in postmortem brain sections from an OPMD patient. Our results indicate that expanded PABPN1, presumably via the toxic effects of its polyalanine tract, can lead to inclusion formation and neurodegeneration in both the mouse and the human. [Copyright &y& Elsevier]

Published
2005
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50. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

Author

Baptiste Fischer, Inge A. Meijer, Renzo Guerrini, Naomi Lubarr, Paolo Aridon, Nils Schoovaerts, Maurizio De Fusco, Elena Parrini, Jef Swerts, Giorgio Casari, Patrik Verstreken, Katherine M. Mackenzie, Wim Versées, Wang-Tso Lee, Jone Paesmans, Davide Cittaro, Davide Mei, Kevin Lüthy, Lüthy, Kevin, Mei, Davide, Fischer, Baptiste, De Fusco, Maurizio, Swerts, Jef, Paesmans, Jone, Parrini, Elena, Lubarr, Naomi, Meijer, Inge A, Mackenzie, Katherine M, Lee, Wang-Tso, Cittaro, Davide, Aridon, Paolo, Schoovaerts, Nil, Versées, Wim, Verstreken, Patrik, Casari, Giorgio, Guerrini, Renzo, Luthy K., Mei D., Fischer B., De Fusco M., Swerts J., Paesmans J., Parrini E., Lubarr N., Meijer I.A., Mackenzie K.M., Lee W.-T., Cittaro D., Aridon P., Schoovaerts N., Versees W., Verstreken P., Casari G., and Guerrini R.

Subjects
Male, Models, Molecular, 0301 basic medicine, Protein Conformation, Amino Acid Motifs, alpha-Tocopherol, Mutant, Crystallography, X-Ray, PHENOTYPE, Compound heterozygosity, Antioxidants, Animals, Genetically Modified, Epilepsy, 0302 clinical medicine, Catalytic Domain, Drosophila Proteins, Missense mutation, oxidative stress, Child, TLDC DOMAIN, VITAMIN-E, Exome sequencing, Sequence Deletion, Neurons, Dystonia, Genetics, exercise-induced dystonia, TBC1D24, GTPase-Activating Proteins, ANNOTATIONS, Epilepsy, Rolandic, Phenotype, Recombinant Proteins, Pedigree, 3. Good health, Rolandic epilepsy, Drosophila melanogaster, Child, Preschool, Female, Settore MED/26 - Neurologia, Synaptic Vesicles, PROTEIN STABILITY, Life Sciences & Biomedicine, Locomotion, Adolescent, Physical Exertion, Mutation, Missense, Clinical Neurology, PREDICTIONS, Biology, 03 medical and health sciences, medicine, Animals, Humans, Amino Acid Sequence, COMPARTMENT, oxidative stre, Science & Technology, Sequence Homology, Amino Acid, MUTATIONS, Neurosciences, Infant, Biological Transport, DEGRADATION, medicine.disease, biology.organism_classification, Acetylcysteine, Disease Models, Animal, Oxidative Stress, 030104 developmental biology, rab GTP-Binding Proteins, SEIZURES, Neurosciences & Neurology, Neurology (clinical), Reactive Oxygen Species, Sequence Alignment, 030217 neurology & neurosurgery
Abstract

Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein. Through whole genome/exome sequencing we identified compound heterozygous mutations, R360H and G501R, within the TLDc domain, in an index family with a Rolandic epilepsy exercise-induced dystonia phenotype (http://omim.org/entry/608105). A 20-year long clinical follow-up revealed that epilepsy was self-limited in all three affected patients, but exercise-induced dystonia persisted into adulthood in two. Furthermore, we identified three additional sporadic paediatric patients with a remarkably similar phenotype, two of whom had compound heterozygous mutations consisting of an in-frame deletion I81_K84 and an A500V mutation, and the third carried T182M and G511R missense mutations, overall revealing that all six patients harbour a missense mutation in the subdomain of TLDc between residues 500 and 511. We solved the crystal structure of the conserved Drosophila TLDc domain. This allowed us to predict destabilizing effects of the G501R and G511R mutations and, to a lesser degree, of R360H and potentially A500V. Next, we characterized the functional consequences of a strong and a weak TLDc mutation (TBC1D24G501R and TBC1D24R360H) using Drosophila, where TBC1D24/Skywalker regulates synaptic vesicle trafficking. In a Drosophila model neuronally expressing human TBC1D24, we demonstrated that the TBC1D24G501R TLDc mutation causes activity-induced locomotion and synaptic vesicle trafficking defects, while TBC1D24R360H is benign. The neuronal phenotypes of the TBC1D24G501R mutation are consistent with exacerbated oxidative stress sensitivity, which is rescued by treating TBC1D24G501R mutant animals with antioxidants N-acetylcysteine amide or α-tocopherol as indicated by restored synaptic vesicle trafficking levels and sustained behavioural activity. Our data thus show that mutations in the TLDc domain of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia. The humanized TBC1D24G501R fly model exhibits sustained activity and vesicle transport defects. We propose that the TBC1D24/Sky TLDc domain is a reactive oxygen species sensor mediating synaptic vesicle trafficking rates that, when dysfunctional, causes a movement disorder in patients and flies. The TLDc and TBC domain mutations' response to antioxidant treatment we observed in the animal model suggests a potential for combining antioxidant-based therapeutic approaches to TBC1D24-associated disorders with previously described lipid-altering strategies for TBC domain mutations. ispartof: BRAIN vol:142 issue:8 pages:2319-2335 ispartof: location:England status: published

Published
2019

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