Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jolien, Roovers"'
Autor:
Oguz Kanca, Hugo J. Bellen, Roelens F, Tatjana Bierhals, Hannah Stamberger, Heather C Mefford, Tasja Scholz, DeJonghe P, Sarah Weckhuysen, Katharina Hermann, Jolien Roovers, Myers Ct, Shinya Yamamoto, Smal N, Dilsad Turkdogan, Sathiya N. Manivannan, Hyunglok Chung
FZR1, which encodes the Cdh1 subunit of the Anaphase Promoting Complex, plays an important role in neurodevelopment by regulating cell cycle and by its multiple post-mitotic functions in neurons. In this study, evaluation of 250 unrelated patients wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c8f543c5e91c84445ca678abfc64ed15
https://doi.org/10.1101/2021.06.12.21256778
https://doi.org/10.1101/2021.06.12.21256778
Autor:
Anders D. Børglum, Simon Fristed Eskildsen, Jens R. Nyengaard, Mohammad Baragji, Gregers Wegener, Veerle Paternoster, Jane H. Christensen, Jolien Roovers, Brian Benjamin Hansen, Thomas J. Corydon, Hans Stødkilde-Jørgensen, Simon Glerup, Ole Mors, Simon Molgaard, Steffen Ringgaard, Per Qvist
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)
Scientific Reports
Qvist, P, Eskildsen, S F, Hansen, B, Baragji, M, Ringgaard, S, Roovers, J, Paternoster, V, Molgaard, S, Corydon, T J, Stødkilde-Jørgensen, H, Glerup, S, Mors, O, Wegener, G, Nyengaard, J R, Børglum, A D & Christensen, J H 2018, ' Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1+/-mice ', Scientific Reports, vol. 8, no. 1, pp. 16486 . https://doi.org/10.1038/s41598-018-34729-5
Scientific Reports
Qvist, P, Eskildsen, S F, Hansen, B, Baragji, M, Ringgaard, S, Roovers, J, Paternoster, V, Molgaard, S, Corydon, T J, Stødkilde-Jørgensen, H, Glerup, S, Mors, O, Wegener, G, Nyengaard, J R, Børglum, A D & Christensen, J H 2018, ' Brain volumetric alterations accompanied with loss of striatal medium-sized spiny neurons and cortical parvalbumin expressing interneurons in Brd1+/-mice ', Scientific Reports, vol. 8, no. 1, pp. 16486 . https://doi.org/10.1038/s41598-018-34729-5
Schizophrenia is a common and severe mental disorder arising from complex gene-environment interactions affecting brain development and functioning. While a consensus on the neuroanatomical correlates of schizophrenia is emerging, much of its fundame
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a2f94b761cd84844d9c5c1598508f18
http://link.springer.com/article/10.1038/s41598-018-34729-5
http://link.springer.com/article/10.1038/s41598-018-34729-5
Autor:
Charles A, Steward, Jolien, Roovers, Marie-Marthe, Suner, Jose M, Gonzalez, Barbara, Uszczynska-Ratajczak, Dmitri, Pervouchine, Stephen, Fitzgerald, Margarida, Viola, Hannah, Stamberger, Fadi F, Hamdan, Berten, Ceulemans, Patricia, Leroy, Caroline, Nava, Anne, Lepine, Electra, Tapanari, Don, Keiller, Stephen, Abbs, Alba, Sanchis-Juan, Detelina, Grozeva, Anthony S, Rogers, Mark, Diekhans, Roderic, Guigó, Robert, Petryszak, Berge A, Minassian, Gianpiero, Cavalleri, Dimitrios, Vitsios, Slavé, Petrovski, Jennifer, Harrow, Paul, Flicek, F, Lucy Raymond, Nicholas J, Lench, Peter De, Jonghe, Jonathan M, Mudge, Sarah, Weckhuysen, Sanjay M, Sisodiya, Adam, Frankish
Publikováno v:
NPJ Genomic Medicine
The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60–65% of patients without a molecular diagnosis. Here, we explore the incomplete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ed837732110def8ffe866152d0c3c556
https://pubmed.ncbi.nlm.nih.gov/31814998
https://pubmed.ncbi.nlm.nih.gov/31814998
Autor:
Stephen Abbs, Caroline Nava, Sanjay M. Sisodiya, Jyoti S. Choudhary, Dimitrios Vitsios, Dmitri D. Pervouchine, Electra Tapanari, Fadi F. Hamdan, Hannah Stamberger, Berten Ceulemans, Detelina Grozeva, Jennifer Harrow, Patricia Leroy, Marie Marthe Suner, Charles A. Steward, Gianpiero L. Cavalleri, Margarida Viola, Anne Fabienne Lepine, José M. González, Mark Diekhans, Barbara Uszczynska-Ratajczak, Paul Flicek, Nicholas Lench, F. Lucy Raymond, Adam Frankish, Robert Petryszak, Stephen Fitzgerald, Sarah Weckhuysen, Alba Sanchis-Juan, James C. Wright, Peter De Jonghe, Roderic Guigó, Anthony Rogers, Slavé Petrovski, Don Keiller, Jonathan M. Mudge, Jolien Roovers, Berge A. Minassian
The early infantile epileptic encephalopathies (EIEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, we explore the incompletenes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b19da24628aeae9fad19e53f09c9ec01
Autor:
Stephen Abbs, Dimitrios Vitsios, Dmitri D. Pervouchine, Paul Flicek, Hannah Stamberger, Roderic Guigó, Barbara Uszczynska-Ratajczak, F. Lucy Raymond, Margarida Viola, Jennifer Harrow, Adam Frankish, Robert Petryszak, Sarah Weckhuysen, Alba Sanchis-Juan, Caroline Nava, Electra Tapanari, José M. González, Anthony Rogers, Slavé Petrovski, Anne Fabienne Lepine, Patricia Leroy, Detelina Grozeva, Marie Marthe Suner, Mark Diekhans, Gianpiero L. Cavalleri, Don Keiller, Berten Ceulemans, Nicholas Lench, Jonathan M. Mudge, Jolien Roovers, Stephen Fitzgerald, Berge A. Minassian, Charles A. Steward, Peter De Jonghe, Sanjay M. Sisodiya, Fadi F. Hamdan
Publikováno v:
Npj genomic medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-11 (2019)
Recercat. Dipósit de la Recerca de Catalunya
instname
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-11 (2019)
Recercat. Dipósit de la Recerca de Catalunya
instname
The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60–65% of patients without a molecular diagnosis. Here, we explore the incomplete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719086b39714e946b1cc05f5c5d1f337
https://hdl.handle.net/10067/1650780151162165141
https://hdl.handle.net/10067/1650780151162165141
Autor:
Gemma L. Carvill, Krysta L. Engel, Aishwarya Ramamurthy, J. Nicholas Cochran, Jolien Roovers, Hannah Stamberger, Nicholas Lim, Amy L. Schneider, Georgie Hollingsworth, Dylan H. Holder, Brigid M. Regan, James Lawlor, Lieven Lagae, Berten Ceulemans, E. Martina Bebin, John Nguyen, Gregory S. Barsh, Sarah Weckhuysen, Miriam Meisler, Samuel F. Berkovic, Peter De Jonghe, Ingrid E. Scheffer, Richard M. Myers, Gregory M. Cooper, Heather C. Mefford, Pasquale Striano, Federico Zara, Ingo Helbig, Rikke S. Møller, Sarah von Spiczak, Hiltrud Muhle, Hande Caglayan, Katalin Sterbova, Dana Craiu, Dorota Hoffman, Anna-Elina Lehesjoki, Kaja Selmer, Christel Depienne, Johannes Lemke, Carla Marini, Renzo Guerrini, Bernd Neubauer, Tiina Talvik, Eric Leguern, Peter de Jonghe
Publikováno v:
Møller, R S & EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group 2018, ' Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1022-1029 . https://doi.org/10.1016/j.ajhg.2018.10.023
The American journal of human genetics
The American journal of human genetics
Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies characterized by refractory seizures and developmental impairment. Sequencing approaches have identified causal genetic variants in only about 50% of individuals wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ea831a5b15156ae4f875e499f7848fc
https://pubmed.ncbi.nlm.nih.gov/30526861
https://pubmed.ncbi.nlm.nih.gov/30526861
Autor:
Hermine E. Veenstra-Knol, Rolph Pfundt, Nada Houcinat, Gregory M. Cooper, James J. Riviello, Frédéric Bilan, Servi J. C. Stevens, Susan M. Hiatt, Mary K. Kukolich, Anna Lehman, Brigitte Gilbert-Dussardier, Cédric Le Caignec, Christian Korff, Catharina M L Volker-Touw, Eva H. Brilstra, Louise Bier, Alexander P.A. Stegmann, Evan H. Baugh, Berten Ceulemans, David Goldstein, Magalie Barth, Heather C. Mefford, Elaine Pereira, Han G. Brunner, Lot Snijders Blok, E. Lopez-Rangel, Rob P.W. Rouhl, Anya Revah-Politi, Bertrand Isidor, Mathilde Pacault, Constance T. R. M. Stumpel, E. Martina Bebin, Dana Craiu, Aida Telegrafi, Marlies Kempers, Jolien Roovers, Erin L. Heinzen, Candace T. Meyers, D Barca, Tania Djémié, Nicholas Stong, Zsuzsanna Siegler, Maureen S. Mulhern, Johannes R. Lemke, Tristan T. Sands, Natalie Lippa, Nicolette S. den Hollander, Danielle McBrian, Ellen van Binsbergen, Sarah Weckhuysen, Mariëtte J.V. Hoffer
Publikováno v:
Annals of neurology
Annals of Neurology, 84(5), 788. John Wiley and Sons Inc.
Annals of Neurology, 84(5), 788-795. Wiley
Annals of Neurology, Vol. 84, No 5 (2018) pp. 788-795
Annals of Neurology, 84, 5, pp. 788-795
Annals of Neurology
Annals of Neurology, Wiley, 2018, 84 (5), pp.788-795. ⟨10.1002/ana.25350⟩
Annals of Neurology, 84, 788-795
Annals of Neurology, 84(5), 788. John Wiley and Sons Inc.
Annals of Neurology, 84(5), 788-795. Wiley
Annals of Neurology, Vol. 84, No 5 (2018) pp. 788-795
Annals of Neurology, 84, 5, pp. 788-795
Annals of Neurology
Annals of Neurology, Wiley, 2018, 84 (5), pp.788-795. ⟨10.1002/ana.25350⟩
Annals of Neurology, 84, 788-795
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, NBEA has not been rigorously evaluated as a disease gene, and associated phenotypes have not been delineated. We identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21ea9504c8445367128367c7329fc421
https://hdl.handle.net/10067/1554400151162165141
https://hdl.handle.net/10067/1554400151162165141
Publikováno v:
Expert opinion on therapeutic targets
Introduction: Gene regulation is the term used to describe the mechanisms by which a cell increases or decreases the amount of a gene product (RNA or protein). In complex organs such as the brain, gene regulation is of the utmost importance; aberrati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f146a5af8ac5ceb99f01d8a51a2c711
https://hdl.handle.net/10067/1553700151162165141
https://hdl.handle.net/10067/1553700151162165141