Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Diane Beysen"'
Publikováno v:
Heliyon, Vol 10, Iss 1, Pp e23746- (2024)
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the DDC gene; approximately 140 patients have been described worldwide. AADC deficiency is characte
Externí odkaz:
https://doaj.org/article/df36465395864647ad5bdcf36cb4511a
Autor:
Anne-Sophie Weyns, Annelies A.J. Verlaet, Maxim Van Herreweghe, Annelies Breynaert, Erik Fransen, Ingrid De Meester, Emilie Logie, Wim Vanden Berghe, Helene Verhelst, Dirk Van West, Ingrid Van Ingelghem, An I. Jonckheere, Diane Beysen, Sandra Kenis, Els Moens, Aalt P.J. van Roest, Huub F.J. Savelkoul, Tess De Bruyne, Luc Pieters, Berten Ceulemans, Nina Hermans
Publikováno v:
Journal of Functional Foods, Vol 97, Iss , Pp 105247- (2022)
Objectives: To evaluate the effect of French Maritime Pine Bark Extract (PBE; Pycnogenol®) on immune, oxidative stress and neurochemical biomarkers in paediatric Attention-Deficit Hyperactivity Disorder (ADHD) as compared to methylphenidate (MPH) an
Externí odkaz:
https://doaj.org/article/05af4a40e8b14b9b860799696b1893fd
Autor:
Anne-Sophie Weyns, Annelies A.J. Verlaet, Annelies Breynaert, Tania Naessens, Erik Fransen, Helene Verhelst, Dirk Van West, Ingrid Van Ingelghem, An I. Jonckheere, Diane Beysen, Sandra Kenis, Els Moens, Aalt P.J. van Roest, Huub F.J. Savelkoul, Tess De Bruyne, Luc Pieters, Berten Ceulemans, Nina Hermans
Publikováno v:
Journal of Functional Foods, Vol 97, Iss , Pp 105246- (2022)
Objectives: Determine the effect of French Maritime Pine Bark Extract (PBE; Pycnogenol®) on Attention-Deficit Hyperactivity Disorder (ADHD) behaviour and co-morbid physical/psychiatric symptoms, compared to placebo and the medicine MPH, and to asses
Externí odkaz:
https://doaj.org/article/f0948939a4bd4a3e90ca5fb76c49b8e1
Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example
Autor:
Diane Beysen, Chania De Cordt, Charlotte Dielman, Benson Ogunjimi, Julie Dandelooy, Edwin Reyniers, Katrien Janssens, Marije M.E. Meuwissen
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by co-morbidities such as intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits. De
Externí odkaz:
https://doaj.org/article/43be86847a91449eb2543fa1545dbbce
Autor:
Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen, Berten Ceulemans, Anna C. Jansen, Marije E.C. Meuwissen
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate,
Externí odkaz:
https://doaj.org/article/5b1e469f059b47b6986cec8e6e0ff986
Autor:
Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M B Carvalho, James R Lupski, Elfride De Baere
Publikováno v:
PLoS Genetics, Vol 9, Iss 3, p e1003358 (2013)
Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism. Recently, several microhomology-mediated repair mechanisms--such as microhomology-mediated end
Externí odkaz:
https://doaj.org/article/384d74b0cd724daa8eb069535180af67
Autor:
Barbara D'haene, Catia Attanasio, Diane Beysen, Josée Dostie, Edmond Lemire, Philippe Bouchard, Michael Field, Kristie Jones, Birgit Lorenz, Björn Menten, Karen Buysse, Filip Pattyn, Marc Friedli, Catherine Ucla, Colette Rossier, Carine Wyss, Frank Speleman, Anne De Paepe, Job Dekker, Stylianos E Antonarakis, Elfride De Baere
Publikováno v:
PLoS Genetics, Vol 5, Iss 6, p e1000522 (2009)
To date, the contribution of disrupted potentially cis-regulatory conserved non-coding sequences (CNCs) to human disease is most likely underestimated, as no systematic screens for putative deleterious variations in CNCs have been conducted. As a mod
Externí odkaz:
https://doaj.org/article/ae6f29c6be8c46bf9b53ff13a30398fb
Autor:
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S. Alkuraya, Aziza Chedrawi, Mais O. Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S. Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B. Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J. Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M. Bain, Tristan T. Sands, Golder N. Wilson, Erin J. Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H. Willemsen, Charlotte W. Ockeloen, Rolph Pfundt, Sanne D. Kroft, Michael Field, Francisco E. R. Laranjeira, Ana M. Fortuna, Ana R. Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D. Weaver, Lynne M. Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M. Campeau, Maria Blazo, Emilia K. Bijlsma, Jill A. Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S. Mohammad, Ruth Armstrong, Vera M. Kalscheuer
Publikováno v:
Molecular Psychiatry, 28, 668-697
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
Molecular psychiatry, Vol. 28, no. 2, p. 668-697 (2022)
Molecular psychiatry
Molecular Psychiatry
MOLECULAR PSYCHIATRY
CLCN4 concortium 2023, ' Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition ', Molecular psychiatry, vol. 28, no. 2, pp. 668-697 . https://doi.org/10.1038/s41380-022-01852-9
Molecular Psychiatry, 28, 2, pp. 668-697
Molecular Psychiatry, 28, 668-697. SPRINGERNATURE
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both mal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39edfb04a13ae9bc854e89ef1416ed62
http://hdl.handle.net/2066/290784
http://hdl.handle.net/2066/290784
Publikováno v:
Journal of clinical immunology.
Autor:
Ilona Krey, Sarah von Spiczak, Kathrine M. Johannesen, Christiane Hikel, Gerhard Kurlemann, Hiltrud Muhle, Diane Beysen, Tobias Dietel, Rikke S. Møller, Johannes R. Lemke, Steffen Syrbe
Publikováno v:
Neurotherapeutics
Pathogenic missense variants in GRIN2A and GRIN2B may result in gain or loss of function (GoF/LoF) of the N-methyl-D-aspartate receptor (NMDAR). This observation gave rise to the hypothesis of successfully treating GRIN-related disorders due to LoF v