Correction: IQSEC2-related encephalopathy in males and females:a comparative study including 37 novel patients

Autor: Petra Laššuthová, Kathryn G. Miller, Jacques L. Michaud, Sarah Weckhuysen, Claude Besmond, Stéphanie Gobin-Limballe, Emílie Vyhnálková, Aoife McMahon, Peter M. van Hasselt, Christine Barnerias, Laurence Hubert, Joannella Morales, Daphné Lehalle, Caroline Lacoste, Rima Nabbout, Hubert Journel, Jasper J. van der Smagt, Patrick Edery, Marjan J. A. van Kempen, Samuel P. Yang, Fiona Cunningham, Thomas Smol, Delphine Héron, Darina Prchalova, David Geneviève, Thierry Bienvenu, Mathieu Milh, Bénédicte Duban-Bedu, Ledia Brunga, Marleen Simon, Ana G. Cristancho, Ethan M. Goldberg, Sandra Janssens, Christel Depienne, Miroslava Hancarova, Shoji Ichikawa, Berge A. Minassian, Ivan Shelihan, Elsa Rossignol, Ange Line Bruel, Elena Gardella, Marije Koopmans, Arnold Munnich, Natasha Shur, Pauline Marzin, Ingo Helbig, Julien Buratti, Alyssa R. Rosen, Giulia Barcia, Claire Davidson, Berten Ceulemans, Marilyn Tallot, Marie Line Jacquemont, Guillaume Smits, Catheline Vilain, Katherine L. Helbig, Gaetan Lesca, Rikke S. Møller, Claire Bar, Marie Laure Moutard, Caroline Nava, Marie Bertille Dehouck, Julie Soblet, Philippe M. Campeau, Cyril Mignot, Laurent Villard, Joelle Roume, Julia Metreau, Dragan Marjanovic, Damien Lederer, Audrey Putoux, Chloé Quélin, Fadi F. Hamdan, Boris Keren, Anna Kaminska, Xilma R. Ortiz-Gonzalez, Christine Ioos, Christine Coubes, Julie Gauthier, Nienke E. Verbeek, Bobby P. C. Koeleman, Eveline Hagebeuk, Jean Marc Pinard, Katalin Štěrbová, Christèle Dubourg, Elizabeth J. Donner

Publikováno v: Mignot, C, McMahon, A C, Bar, C, Campeau, P M, Davidson, C, Buratti, J, Nava, C, Jacquemont, M L, Tallot, M, Milh, M, Edery, P, Marzin, P, Barcia, G, Barnerias, C, Besmond, C, Bienvenu, T, Bruel, A L, Brunga, L, Ceulemans, B, Coubes, C, Cristancho, A G, Cunningham, F, Dehouck, M B, Donner, E J, Duban-Bedu, B, Dubourg, C, Gardella, E, Gauthier, J, Geneviève, D, Gobin-Limballe, S, Goldberg, E M, Hagebeuk, E, Hamdan, F F, Hančárová, M, Hubert, L, Ioos, C, Ichikawa, S, Janssens, S, Journel, H, Kaminska, A, Keren, B, Koopmans, M, Lacoste, C, Laššuthová, P, Lederer, D, Lehalle, D, Marjanovic, D, Métreau, J, Michaud, J L, Miller, K, Minassian, B A, Morales, J, Moutard, M L, Munnich, A, Ortiz-Gonzalez, X R, Pinard, J M, Prchalová, D, Putoux, A, Quelin, C, Rosen, A R, Roume, J, Rossignol, E, Simon, M E H, Smol, T, Shur, N, Shelihan, I, Štěrbová, K, Vyhnálková, E, Vilain, C, Soblet, J, Smits, G, Yang, S P, van der Smagt, J J, van Hasselt, P M, van Kempen, M, Weckhuysen, S, Helbig, I, Villard, L, Héron, D, Koeleman, B, Møller, R S, Lesca, G, Helbig, K L, Nabbout, R, Verbeek, N E & Depienne, C 2019, ' Correction: IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients ', Genetics in Medicine, vol. 21, no. 8, pp. 1897-1898 . https://doi.org/10.1038/s41436-018-0327-7

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7eb19782939810e2271f6c2552f95ec
https://portal.findresearcher.sdu.dk/da/publications/8d5d26bf-dae3-42ea-9734-c876adb49ffa

A prion protein epitope selective for the pathologically misfolded conformation

Autor: Wen-Quan Zou, Sylvie LaBoissiere, Marty Lehto, Maria Papadopoulos, Mark Head, Quentin J. Tonelli, Leslie H. Kondejewski, Harry C. Ledebur, Katherine I. O'Rourke, Neil R. Cashman, Eustache Paramithiotis, Gregory P. Francoeur, Julie Lamontagne, Marc Pinard, Valerie Leathers, Ashkan Haghighat, Stephen J. Spatz, James W. Ironside, Avi Chakrabartty, Lisa Estey, Robert G. Will, Trebor Lawton

Publikováno v: Nature Medicine. 9:893-899

Conformational conversion of proteins in disease is likely to be accompanied by molecular surface exposure of previously sequestered amino-acid side chains. We found that induction of beta-sheet structures in recombinant prion proteins is associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5907afd9c91c47331119699d9e197bf2
https://doi.org/10.1038/nm883

Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH)

Autor: Bernard Echenne, Vincent des Portes, Irina Snoeck, Marie Laure Moutard, Jamel Chelly, Fiona Francis, Jacques Motte, Stefano Ricci, Jean Marc Pinard, Olivier Dulac, Raffaella Cusmai, François Capron, Linda C. Meiners, G Ponsot, Cherif Beldjord, Isabelle Desguerre

Publikováno v: Human Molecular Genetics. 7:1063-1070

Subcortical laminar heterotopia (SCLH), or 'double cortex', is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical manifestations are epilepsy and mental retardation. This disorder, which mainly affects females, ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bca4af17b91b9260f5a2007c3af25694
https://doi.org/10.1093/hmg/7.7.1063

Inhibition of tumorigenesis by a cytosine–DNA, methyltransferase, antisense oligodeoxynucleotide

Autor: Shyam Ramchandani, A. Robert MacLeod, Eric von Hofe, Marc Pinard, Moshe Szyf

Publikováno v: Proceedings of the National Academy of Sciences. 94:684-689

This paper tests the hypothesis that cytosine DNA methyltransferase (DNA MeTase) is a candidate target for anticancer therapy. Several observations have suggested recently that hyperactivation of DNA MeTase plays a critical role in initiation and pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824e36dfee1440fb510060025b519179
https://doi.org/10.1073/pnas.94.2.684

The location of DCX mutations predicts malformation severity in X-linked lissencephaly

Autor: Perrine Plouin, Pierre-Louis Leger, Hilde Van Esch, Marie Laure Moutard, Fiona Francis, Cherif Beldjord, N Bahi-Buisson, Jean Marc Pinard, Jamel Chelly, Jean Louis Renard, Isabelle Souville, Caroline Elie, Vincent des Portes, Sylvie Joriot, Nathalie Boddaert

Publikováno v: neurogenetics
neurogenetics, Springer Verlag, 2008, 9, pp.Issue : 4 Pages : 277-285. 〈10.1007/s10048-008-0141-5〉
neurogenetics, Springer Verlag, 2008, 9, pp.Issue : 4 Pages : 277-285. ⟨10.1007/s10048-008-0141-5⟩

International audience; Lissencephaly spectrum (LIS) is one of the most severe neuronal migration disorders that ranges from agyria/pachygyria to subcortical band heterotopia. Approximately 80% of patients with the LIS spectrum carry mutations in eit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bbad81bb66758fe15bba117f12e86b1
https://pubmed.ncbi.nlm.nih.gov/18685874