Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Deniz, Karadurmus"'
Autor:
Gladys, Battisti, René, Wintjens, Anabelle, Decottignies, Ahmad, Merhi, Caroline, Fervaille, Etienne, Sokal, Deniz, Karadurmus, Valerie, Benoit, Anick, Claessens, Jean-Paul, Martinet, Benoît, Martiat, Philippe, Kinzinger, Isabelle, Maystadt
Publikováno v:
In European Journal of Medical Genetics December 2021 64(12)
Autor:
Charlène Lhuissier, Bart E. Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster, Valerie Benoit, Deniz Karadurmus, Guy Lenaers, Naïg Gueguen, Arnaud Chevrollier, Isabelle Maystadt
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum, ranging from non-syndromic optic atrophy to lethal infantile encephalopathy. Here, we
Externí odkaz:
https://doaj.org/article/fb9e9eb0a6ec49f79860bee515199a0a
Autor:
Tanguy Demaret, René Wintjens, Gwenaelle Sana, Joachim Docquir, Frederic Bertin, Christophe Ide, Olivier Monestier, Deniz Karadurmus, Valerie Benoit, Isabelle Maystadt
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with GNAS locus genetic or epigenetic defects. Inactivating PTH/PTHrP signaling disorders (iPPSD) define ov
Externí odkaz:
https://doaj.org/article/83a6fdcdadd640549bf9cb6a62b130ff
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
Autor:
Svetlana M. Molchanova, Joris Comhair, Deniz Karadurmus, Elisabeth Piccart, Robert J. Harvey, Jean-Michel Rigo, Serge N. Schiffmann, Bert Brône, David Gall
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2018)
Medium spiny neurons (MSNs) of the dorsal striatum represent the first relay of cortico–striato–thalamic loop, responsible for the initiation of voluntary movements and motor learning. GABAergic transmission exerts the main inhibitory control of
Externí odkaz:
https://doaj.org/article/5ee5c682663e461086de2ebe2b7ec153
Autor:
Charlène Lhuissier, Bart E. Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster, Valerie Benoit, Deniz Karadurmus, Guy Lenaers, Naïg Gueguen, Arnaud Chevrollier, Isabelle Maystadt
Publikováno v:
Lhuissier, C, Wagner, B E, Vincent, A, Garraux, G, Hougrand, O, Van Coster, R, Benoit, V, Karadurmus, D, Lenaers, G, Gueguen, N, Chevrollier, A & Maystadt, I 2022, ' Case report : Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant ', Frontiers in neurology, vol. 13, 937885 . https://doi.org/10.3389/fneur.2022.937885
Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum, ranging from non-syndromic optic atrophy to lethal infantile encephalopathy. Here, we
Autor:
Tanguy Demaret, René Wintjens, Gwenaelle Sana, Joachim Docquir, Frederic Bertin, Christophe Ide, Olivier Monestier, Deniz Karadurmus, Valerie Benoit, Isabelle Maystadt
Publikováno v:
Demaret, T, Wintjens, R, Sana, G, Docquir, J, Bertin, F, Ide, C, Monestier, O, Karadurmus, D, Benoit, V & Maystadt, I 2022, ' Case Report : Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance ', Frontiers in endocrinology, vol. 13, 928284 . https://doi.org/10.3389/fendo.2022.928284
PTH resistance is characterized by elevated parathyroid hormone (PTH) levels, hypocalcemia, hyperphosphatemia and it is classically associated with GNAS locus genetic or epigenetic defects. Inactivating PTH/PTHrP signaling disorders (iPPSD) define ov
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa3fde4c3ad0531236616626c629e1df
https://pure.unamur.be/ws/files/68734259/fendo_13_928284.pdf
https://pure.unamur.be/ws/files/68734259/fendo_13_928284.pdf
Autor:
Alexis Dembour, Anne Destrée, Marie Deprez, Hazim Kadhim, Deniz Karadurmus, Olivier Froment, Nicolas Deconinck, Damien Lederer
Publikováno v:
European Journal of Medical Genetics, Vol. 65, no.4, p. 104469 (2022)
Pathogenic variants in the genes encoding for the ASC1 complex were recently reported in patients with congenital fractures, joint contractures, neonatal hypotonia and respiratory distress. Here we report two male children with biallelic TRIP4 pathog
Publikováno v:
American Journal of Medical Genetics Part A. 182:1537-1539
Autor:
Daniel Rial, David Communi, Deniz Karadurmus, Serge N. Schiffmann, Alban de Kerchove d'Exaerde, Jean-François De Backer
Publikováno v:
The Journal of neuroscience, 39 (38
The regulation of the striatum by the GPCR signaling through neuromodulators is essential for its physiology and physiopathology, so it is necessary to know all the compounds of these pathways. In this study, we identified a new important partner of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ab949d5830fcfb0ac11b3831cacb2e
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/293648
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/293648