De Novo and Inherited Loss-of-Function Variants in TLK2

Publikováno v: American Journal of Human Genetics. 102(6):1195-1203

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___00893::858662ced98253165fe7b753f5156b3b
https://doi.org/10.1016/j.ajhg.2018.04.014

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Autor: Christine M. Eng, Reza Maroofian, Anna Rajab, GholamReza Karami Madani, Abolfazl Rad, Magdalena Walkiewicz, Fan Xia, Fatma Al-Jasmi, Stylianos E. Antonarakis, Martin Helmstädter, Marios Kambouris, Sebastian J. Arnold, Zornitza Stark, Miriam Schmidts, Sebastian Lunke, Atteeq U. Rehman, Francesco Vetrini, Maryam Najafi, Federico Santoni, Ehsan Ghayoor Karimiani, Lihadh Al-Gazali, Mari Tokita, Jozef Hertecant, Hanan Hamamy, Weimin He, Pengfei Liu, Periklis Makrythanasis, Hatem El-Shanti, Zeineb Bakey, Jill V. Hunter, Yaping Yang, Christopher M. Richmond, Kaman Wu, Andrea K. Petersen

Publikováno v: Human Mutation, 40, 3, pp. 267-280
Human Mutation
Human mutation, vol. 40, no. 3, pp. 267-280
Human Mutation, 40, 267-280

Next‐generation sequencing (NGS) has been instrumental in solving the genetic basis of rare inherited diseases, especially neurodevelopmental syndromes. However, functional workup is essential for precise phenotype definition and to understand the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d49d758337468ef5222cdd86eccb85e
https://hdl.handle.net/2066/201369

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Autor: Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., The Deciphering Developmental Disorders Study

Publikováno v: American Journal of Human Genetics, 102(6), 1195-1203. Cell Press

Next-generation sequencing is a powerful tool for the discovery of genes related to neurodevelopmental disorders (NDDs). Here, we report the identification of a distinct syndrome due to de novo or inherited heterozygous mutations in Tousled-like kina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::400b2cb511e633d984640f1c5a302d10
https://cris.maastrichtuniversity.nl/en/publications/694818f3-5c2c-4380-85f2-cc7867ebe360

The landscape of epilepsy-related GATOR1 variants

Autor: Johannes R. Lemke, Pia Zacher, Thomas Dorn, Laura Hernandez-Hernandez, Natasha E. Schoeler, Stéphanie Baulac, Sara Baldassari, Anne de Saint Martin, Eleni Panagiotakaki, Anne Fabienne Lepine, Markus Wolff, Arnaud Biraben, Renske Oegema, Edouard Hirsch, Anna Jansen, Charles Deckers, Nienke E. Verbeek, Fabienne Picard, Georg Dorfmüller, Sarah Ferrand-Sorbets, Barbora Benova, Francesca Bisulli, Inga Talvik, Kristin Lindstrom, Tilman Polster, Douglas R. Nordli, Tommaso Pippucci, Eva H. Brilstra, Shifteh Sattar, Erik H. Niks, Marie Line Jacquemont, Kees P.J. Braun, Karen Müller-Schlüter, Sanjay M. Sisodiya, Sarah Weckhuysen, Lysa Boissé Lomax, Sophie Julia, Brigitte Ricard-Mousnier, Mathilde Chipaux, Laura Licchetta, Gaetan Lesca, Bianca Berghuis, S. Krithika, Jamel Chelly, Renzo Guerrini, Hélène Catenoix, Annapurna Poduri, Melanie Jennesson, Pasquale Striano, Rikke S. Møller, Antonio Gambardella, Guillaume Achaz, Peter Uldall, Fabrice Bartolomei, Giuseppe d'Orsi, Laurence Faivre, Floor E. Jansen, An Sofie Schoonjans, Kevin Rostasy, Thomas Becher, Pavel Krsek, Julien Thevenon, Marjan J. A. van Kempen, Guido Rubboli, Cécile Marchal, Meral Balci, Boudewijn Gunning, Ilona Krey, Julitta de Bellescize, Veronique Darmency, Christopher J. Yuskaitis, Daniëlle de Jong, Giovanni Crichiutti, Paolo Tinuper, Katrien Stouffs, Valentin Sander, Anne-Sophie Lebre, Thomas Cloppenborg, Valerio Conti, Gabrielle Rudolf, Courtney Kiss, Eveline Hagebeuk, Caroline Nava, Eric LeGuern, Ilse Wegner, Christian Brandt, Martin Zenker, Simona Balestrini

Publikováno v: Genetics in Medicine (2018)
Genetics in medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M-L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d'Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A-S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A-S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics In Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine
Baldassari, S, Picard, F, Verbeek, N E, van Kempen, M, Brilstra, E H, Lesca, G, Conti, V, Guerrini, R, Bisulli, F, Licchetta, L, Pippucci, T, Tinuper, P, Hirsch, E, de Saint Martin, A, Chelly, J, Rudolf, G, Chipaux, M, Ferrand-Sorbets, S, Dorfmüller, G, Sisodiya, S, Balestrini, S, Schoeler, N, Hernandez-Hernandez, L, Krithika, S, Oegema, R, Hagebeuk, E, Gunning, B, Deckers, C, Berghuis, B, Wegner, I, Niks, E, Jansen, F E, Braun, K, de Jong, D, Rubboli, G, Talvik, I, Sander, V, Uldall, P, Jacquemont, M L, Nava, C, Leguern, E, Julia, S, Gambardella, A, d’Orsi, G, Crichiutti, G, Faivre, L, Darmency, V, Benova, B, Krsek, P, Biraben, A, Lebre, A S, Jennesson, M, Sattar, S, Marchal, C, Nordli, D R, Lindstrom, K, Striano, P, Lomax, L B, Kiss, C, Bartolomei, F, Lepine, A F, Schoonjans, A S, Stouffs, K, Jansen, A, Panagiotakaki, E, Ricard-Mousnier, B, Thevenon, J, de Bellescize, J, Catenoix, H, Dorn, T, Zenker, M, Müller-Schlüter, K, Brandt, C, Krey, I, Polster, T, Wolff, M, Balci, M, Rostasy, K, Achaz, G, Zacher, P, Becher, T, Cloppenborg, T, Yuskaitis, C J, Weckhuysen, S, Poduri, A, Lemke, J R, Møller, R S & Baulac, S 2019, ' The landscape of epilepsy-related GATOR1 variants ', Genetics in Medicine, vol. 21, no. 2, pp. 398-408 . https://doi.org/10.1038/s41436-018-0060-2
Genetics in Medicine, 21(2), 398. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2019, 21 (2), pp.398-408. ⟨10.1038/s41436-018-0060-2⟩
Genetics in medicine : official journal of the American College of Medical Genetics

Purpose:\ud \ud To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway.\ud \ud Methods:\ud \ud We analyzed clinical and genetic d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::981b64cbea60b6d54468d69c2530dcf1
https://archive-ouverte.unige.ch/unige:112563

Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort

Autor: Juan Fortea, Marc Cruts, Tobi Van den Bossche, Jan Versijpt, Alessandro Padovani, Luisa Benussi, Roberta Ghidoni, Alexandre de Mendonça, Elena Lorenzo, Manuel Seijo-Martínez, Jaume Campdelacreu, Sandro Sorbi, Radoslav Matej, Peter Paul De Deyn, Panagiotis Alexopoulos, Olivier Deryck, Albert Lladó, Pau Pastor, Frederico Simões do Couto, Rik Vandenberghe, Estrella Gómez-Tortosa, Zdenek Rohan, Jordi Clarimón, Anne Sieben, Jordi Gascon, Isabel Santana, Maria A. Pastor, Maria Koutroumani, Madalena Martins, Sebastiaan Engelborghs, Janine Diehl-Schmid, Christine Van Broeckhoven, Benedetta Nacmias, Patrick Santens, Lubina Dillen, Ilse Gijselinck, Giuliano Binetti, Silvia Bagnoli, Bruno Bergmans, Agustín Ruiz, Raquel Sánchez-Valle, Barbara Borroni, Maria Rosário Almeida, Kristel Sleegers, Ellen Gelpi, Adrian Ivanoiu, Bavo Heeman, Cristina Razquin, Magda Tsolaki, Elena Iglesias, Caroline Graff, Johan Goeman, Alberto Lleó, Valentina Bessi, Laura Fratiglioni, Jan Verheijen, Alex Michotte, Jan De Bleecker, Rafael Blesa, Julie van der Zee, Eric Salmon, Ramón Reñé, Dirk Nuytten, Mathieu Vandenbulcke, Bart Dermaut, Håkan Thonberg, Christiana Willems

Publikováno v: Neurobiology of Aging
Neurobiology of aging, Vol. 62, p. 245.e1-245.e7 (2018)
NEUROBIOLOGY OF AGING
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Neurobiology of aging

TANK-binding kinase 1 (TBK1) loss-of-function (LoF) mutations are known to cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), often combined with memory deficits early in the disease course. We performed targeted resequencin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58ed5857598d419a89a3fe6fb32883e4
http://hdl.handle.net/2158/1107096