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Page 1
MCT8 deficiency in females.
Groeneweg S, van Geest FS, van der Most F, Abela L, Alfieri P, Bauer AJ, Bertini E, Cappa M, Çelik N, de Coo IFM, Dolcetta-Capuzzo A, Dubinski I, Granadillo JL, Hoefsloot LH, Kalscheuer VM, van der Knoop MM, Krude H, McNerney KP, Paone L, Peeters RP, Peters C, Schuelke M, Schweizer U, Sprague JE, van Trotsenburg ASP, Wilpert NM, Zanni G, van Zutven LJCM, Visser WE. Groeneweg S, et al. Among authors: van der knoop mm. J Clin Endocrinol Metab. 2025 May 27:dgaf311. doi: 10.1210/clinem/dgaf311. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 40420837
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa … See abstract for full author list ➔ Groeneweg S, et al. Among authors: van der knoop mm. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. Nat Commun. 2025. PMID: 40075072 Free PMC article.
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC article.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: van der knoop mm. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.
Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE. Groeneweg S, et al. Among authors: van der knoop mm. Lancet Diabetes Endocrinol. 2019 Sep;7(9):695-706. doi: 10.1016/S2213-8587(19)30155-X. Epub 2019 Jul 31. Lancet Diabetes Endocrinol. 2019. PMID: 31377265 Free PMC article. Clinical Trial.
Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis.
de Bruijn MAAM, Aarsen FK, van Oosterhout MP, van der Knoop MM, Catsman-Berrevoets CE, Schreurs MWJ, Bastiaansen DEM, Sillevis Smitt PAE, Neuteboom RF, Titulaer MJ; CHANCE Study Group. de Bruijn MAAM, et al. Among authors: van der knoop mm. Neurology. 2018 May 29;90(22):e1997-e2005. doi: 10.1212/WNL.0000000000005605. Epub 2018 Apr 27. Neurology. 2018. PMID: 29703768 Free PMC article.
Toward a Conceptualization of the Content of Psychosocial Screening in Living Organ Donors: An Ethical Legal Psychological Aspects of Transplantation Consensus.
Ismail SY, Duerinckx N, van der Knoop MM, Timmerman L, Weimar W, Dobbels F, Massey EK, Busschbach JJ; ELPAT Psychological Care for Living Donors and Recipients Working Group. Ismail SY, et al. Among authors: van der knoop mm. Transplantation. 2015 Nov;99(11):2413-21. doi: 10.1097/tp.0000000000000771. Transplantation. 2015. PMID: 26798862