JNK Signaling in Drosophila Aging and Longevity
Gan, Tian, Fan, Lixia, Zhao, Long, Misra, Mala, Liu, Min, Zhang, Min, Su, Ying
Published in International journal of molecular sciences (06.09.2021)
Published in International journal of molecular sciences (06.09.2021)
Get full text
Journal Article
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
Maia, Nuno, Ibarluzea, Nekane, Misra‐Isrie, Mala, Koboldt, Daniel C., Marques, Isabel, Soares, Gabriela, Santos, Rosário, Marcelis, Carlo L. M., Keski‐Filppula, Riikka, Guitart, Miriam, Gabau Vila, Elisabeth, Lehman, April, Hickey, Scott, Mori, Mari, Terhal, Paulien, Valenzuela, Irene, Lasa‐Aranzasti, Amaia, Cueto‐González, Anna Maria, Chhouk, Brian H., Yeh, Rebecca C., Neil, Jennifer E., Abu‐Libde, Bassam, Kleefstra, Tjitske, Elting, Mariet W., Császár, Andrea, Kárteszi, Judit, Bessenyei, Beáta, Bokhoven, Hans, Jorge, Paula, Hagen, Johanna M., Brouwer, Arjan P. M.
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
Get full text
Journal Article
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome
van der Laan, Liselot, Rooney, Kathleen, Alders, Mariëlle, Relator, Raissa, McConkey, Haley, Kerkhof, Jennifer, Levy, Michael A, Lauffer, Peter, Aerden, Mio, Theunis, Miel, Legius, Eric, Tedder, Matthew L, Vissers, Lisenka E L M, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette J V, Wieczorek, Dagmar, Bramswig, Nuria C, Herget, Theresia, González, Vanesa López, Santos-Simarro, Fernando, Tørring, Pernille M, Denomme-Pichon, Anne-Sophie, Isidor, Bertrand, Keren, Boris, Julia, Sophie, Schaefer, Elise, Francannet, Christine, Maillard, Pierre-Yves, Misra-Isrie, Mala, Van Esch, Hilde, Mannens, Marcel M A M, Sadikovic, Bekim, van Haelst, Mieke M, Henneman, Peter
Published in International journal of molecular sciences (08.11.2022)
Published in International journal of molecular sciences (08.11.2022)
Get full text
Journal Article
A Genome-Wide Screen for Dendritically Localized RNAs Identifies Genes Required for Dendrite Morphogenesis
Misra, Mala, Edmund, Hendia, Ennis, Darragh, Schlueter, Marissa A, Marot, Jessica E, Tambasco, Janet, Barlow, Ida, Sigurbjornsdottir, Sara, Mathew, Renjith, Vallés, Ana Maria, Wojciech, Waldemar, Roth, Siegfried, Davis, Ilan, Leptin, Maria, Gavis, Elizabeth R
Published in G3 : genes - genomes - genetics (01.08.2016)
Published in G3 : genes - genomes - genetics (01.08.2016)
Get full text
Journal Article
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG
Houtman, Simon J, Lammertse, Hanna C A, van Berkel, Annemiek A, Balagura, Ganna, Gardella, Elena, Ramautar, Jennifer R, Reale, Chiara, Møller, Rikke S, Zara, Federico, Striano, Pasquale, Misra-Isrie, Mala, van Haelst, Mieke M, Engelen, Marc, van Zuijen, Titia L, Mansvelder, Huibert D, Verhage, Matthijs, Bruining, Hilgo, Linkenkaer-Hansen, Klaus
Published in Frontiers in physiology (23.12.2021)
Published in Frontiers in physiology (23.12.2021)
Get full text
Journal Article
De novo SPAST mutations may cause a complex SPG4 phenotype
Schieving, Jolanda H, de Bot, Susanne T, van de Pol, Laura A, Wolf, Nicole I, Brilstra, Eva H, Frints, Suzanna G, van Gaalen, Judith, Misra-Isrie, Mala, Pennings, Maartje, Verschuuren-Bemelmans, Corien C, Kamsteeg, Erik-Jan, van de Warrenburg, Bart P, Willemsen, Michèl A
Published in Brain (London, England : 1878) (01.07.2019)
Published in Brain (London, England : 1878) (01.07.2019)
Get full text
Journal Article
Early mortality in STXBP1-related disorders
Furia, Francesca, Rigby, Charlene Son, Scheffer, Ingrid E, Allen, Nicholas, Baker, Kate, Hengsbach, Christian, Kegele, Josua, Goss, James, Gorman, Kathleen, Mala, Misra-Isrie, Nicita, Francesco, Allan, Talia, Spalice, Alberto, Weber, Yvonne, Rubboli, Guido, Møller, Rikke S, Gardella, Elena
Published in Neurological sciences (11.10.2024)
Published in Neurological sciences (11.10.2024)
Get full text
Journal Article
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
Rooney, Kathleen, van der Laan, Liselot, Trajkova, Slavica, Haghshenas, Sadegheh, Relator, Raissa, Lauffer, Peter, Vos, Niels, Levy, Michael A., Brunetti-Pierri, Nicola, Terrone, Gaetano, Mignot, Cyril, Keren, Boris, de Villemeur, Thierry B., Volker-Touw, Catharina M.L., Verbeek, Nienke, van der Smagt, Jasper J., Oegema, Renske, Brusco, Alfredo, Ferrero, Giovanni B., Misra-Isrie, Mala, Hochstenbach, Ron, Alders, Mariëlle, Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Published in Genetics in medicine (01.08.2023)
Published in Genetics in medicine (01.08.2023)
Get full text
Journal Article
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde
Published in European journal of human genetics : EJHG (01.04.2023)
Published in European journal of human genetics : EJHG (01.04.2023)
Get full text
Journal Article
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
van der Laan, Liselot, Karimi, Karim, Rooney, Kathleen, Lauffer, Peter, McConkey, Haley, Caro, Pilar, Relator, Raissa, Levy, Michael A., Bhai, Pratibha, Mignot, Cyril, Keren, Boris, Briuglia, Silvana, Sobering, Andrew K., Li, Dong, Vissers, Lisenka E.L.M., Dingemans, Alexander J.M., Valenzuela, Irene, Verberne, Eline A., Misra-Isrie, Mala, Zwijnenburg, Petra J.G., Waisfisz, Quinten, Alders, Mariëlle, Sailer, Sebastian, Schaaf, Christian P., Mannens, Marcel M.A.M., Sadikovic, Bekim, van Haelst, Mieke M., Henneman, Peter
Published in Genetics in medicine (01.03.2024)
Published in Genetics in medicine (01.03.2024)
Get full text
Journal Article
Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP 1 -Related Disorder Patient Neurons
van Berkel, Annemiek Arienne, Lammertse, Hanna Charlotte Andrea, Öttl, Miriam, Koopmans, Frank, Misra-Isrie, Mala, Meijer, Marieke, Dilena, Robertino, van Hasselt, Peter Marin, Engelen, Marc, van Haelst, Mieke, Smit, August Benjamin, van der Sluis, Sophie, Toonen, Ruud Franciscus, Verhage, Matthijs
Published in Biological psychiatry global open science (01.01.2024)
Get full text
Published in Biological psychiatry global open science (01.01.2024)
Journal Article
Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons
Van Berkel, Annemiek Arienne, Lammertse, Hanna Charlotte Andrea, Öttl, Miriam, Koopmans, Frank, Misra-Isrie, Mala, Meijer, Marieke, Dilena, Robertino, Van Hasselt, Peter Marin, Van Engelen, Marc, Van Haelst, Mieke, Smit, August Bernard, Van der Sluis, Sophie, Toonen, Ruud Ferdinand, Verhage, Matthijs
Published in Biological psychiatry global open science (01.01.2024)
Published in Biological psychiatry global open science (01.01.2024)
Get full text
Journal Article