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Page 1
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: degoede c. 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.
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: degoede c. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. Nat Commun. 2025. PMID: 40075072 Free PMC article.
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Henzi BC, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, Stimpson G; North Star Consortium; Amthor H, Childs AM, Deconinck N, de Groot I, Horrocks I, Houwen-van Opstal S, Laugel V, Lopez Lobato M, Madruga Garrido M, Nascimento Osorio A, Schara-Schmidt U, Spinty S, von Moers A, Lawrence F, Hafner P, Dorchies OM, Fischer D. Henzi BC, et al. Lancet Neurol. 2023 Oct;22(10):890-899. doi: 10.1016/S1474-4422(23)00285-5. Lancet Neurol. 2023. PMID: 37739572 Clinical Trial.
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Dong S, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Candler T, Firth H, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. Among authors: degoede cgel. Genome Med. 2025 Apr 14;17(1):40. doi: 10.1186/s13073-025-01464-2. Genome Med. 2025. PMID: 40229884 Free PMC article.
Treatment of Nocturnal Enuresis Using Miniaturised Smart Mechatronics With Artificial Intelligence.
Kuru K, Ansell D, Hughes D, Watkinson BJ, Gaudenzi F, Jones M, Lunardi D, Caswell N, Montiel AR, Leather P, Irving D, Bennett K, McKenzie C, Sugden P, Davies C, Degoede C. Kuru K, et al. Among authors: degoede c. IEEE J Transl Eng Health Med. 2023 Nov 27;12:204-214. doi: 10.1109/JTEHM.2023.3336889. eCollection 2024. IEEE J Transl Eng Health Med. 2023. PMID: 38088989 Free PMC article.
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J. Böhm J, et al. Among authors: degoede cg. Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2. Hum Mutat. 2017. PMID: 28058752
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N. Martin-Geary AC, et al. Among authors: degoede cgel. medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416. medRxiv. 2023. Update in: Genome Med. 2025 Apr 14;17(1):40. doi: 10.1186/s13073-025-01464-2. PMID: 37745552 Free PMC article. Updated. Preprint.
Frequency of reported pain in adult males with muscular dystrophy.
Jacques MF, Stockley RC, Bostock EI, Smith J, DeGoede CG, Morse CI. Jacques MF, et al. Among authors: degoede cg. PLoS One. 2019 Feb 14;14(2):e0212437. doi: 10.1371/journal.pone.0212437. eCollection 2019. PLoS One. 2019. PMID: 30763387 Free PMC article.