Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Wigby, Kristen M., Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Rosenfeld, Jill A., Laniewski, Stephanie C., Jones, Julie, Iglesias, Alejandro D., Jones, Marilyn C., Masser-Frye, Diane, Scheuerle, Angela E., Perry, Denise L., Taft, Ryan J., Le Deist, Françoise, Thompson, Miles, Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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Fatal Mycobacterium colombiense/cytomegalovirus coinfection associated with acquired immunodeficiency due to autoantibodies against interferon gamma: a case report
Poulin, Sébastien, Corbeil, Claude, Nguyen, Mélanie, St-Denis, Anik, Côté, Lise, Le Deist, Françoise, Carignan, Alex
Published in BMC infectious diseases (22.01.2013)
Published in BMC infectious diseases (22.01.2013)
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Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy
Duquette, Antoine, Roddier, Katel, McNabb-Baltar, Julia, Gosselin, Isabelle, St-Denis, Anik, Dicaire, Marie-Josée, Loisel, Lina, Labuda, Damian, Marchand, Luc, Mathieu, Jean, Bouchard, Jean-Pierre, Brais, Bernard
Published in Annals of neurology (01.03.2005)
Published in Annals of neurology (01.03.2005)
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (02.04.2020)
Published in American journal of human genetics (02.04.2020)
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Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy
Johnstone, Devon L, Nguyen, Thi-Tuyet-Mai, Murakami, Yoshiko, Kernohan, Kristin D, Tétreault, Martine, Goldsmith, Claire, Doja, Asif, Wagner, Justin D, Huang, Lijia, Hartley, Taila, St-Denis, Anik, le Deist, Françoise, Majewski, Jacek, Bulman, Dennis E, Kinoshita, Taroh, Dyment, David A, Boycott, Kym M, Campeau, Philippe M
Published in Human molecular genetics (01.05.2017)
Published in Human molecular genetics (01.05.2017)
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Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
Edvardson, Simon, Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Shahrour, Maher, St-Denis, Anik, Shaag, Avraham, Damseh, Nadira, Le Deist, Françoise, Bryceson, Yenan, Abu-Libdeh, Bassam, Campeau, Philippe M, Kinoshita, Taroh, Elpeleg, Orly
Published in Journal of medical genetics (01.03.2017)
Published in Journal of medical genetics (01.03.2017)
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Role of protein kinase C-alpha in the control of infection by intracellular pathogens in macrophages
St-Denis, A, Caouras, V, Gervais, F, Descoteaux, A
Published in The Journal of immunology (1950) (15.11.1999)
Published in The Journal of immunology (1950) (15.11.1999)
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