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Year Number of Results
1982 1
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1997 3
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1999 1
2000 2
2001 1
2004 4
2005 8
2006 7
2007 5
2008 4
2009 8
2010 11
2011 8
2012 11
2013 8
2014 6
2015 11
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2018 14
2019 7
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146 results

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Page 1
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Among authors: de coo if. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
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: de coo ifm. 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.
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: de coo ifm. J Clin Endocrinol Metab. 2025 May 27:dgaf311. doi: 10.1210/clinem/dgaf311. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 40420837
A prospective open label 2-8 year extension of the randomised controlled ICON trial on the long-term efficacy and safety of occipital nerve stimulation in medically intractable chronic cluster headache.
Brandt RB, Wilbrink LA, de Coo IF, Haan J, Mulleners WM, Huygen FJPM, van Zwet EW, Ferrari MD, Fronczek R; ICON study group. Brandt RB, et al. Among authors: de coo if. EBioMedicine. 2023 Dec;98:104895. doi: 10.1016/j.ebiom.2023.104895. Epub 2023 Nov 25. EBioMedicine. 2023. PMID: 38007947 Free PMC article. Clinical Trial.
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Le TL, Galmiche L, Levy J, Suwannarat P, Hellebrekers DM, Morarach K, Boismoreau F, Theunissen TE, Lefebvre M, Pelet A, Martinovic J, Gelot A, Guimiot F, Calleroz A, Gitiaux C, Hully M, Goulet O, Chardot C, Drunat S, Capri Y, Bole-Feysot C, Nitschké P, Whalen S, Mouthon L, Babcock HE, Hofstra R, de Coo IF, Tabet AC, Molina TJ, Keren B, Brooks A, Smeets HJ, Marklund U, Gordon CT, Lyonnet S, Amiel J, Bondurand N. Le TL, et al. Among authors: de coo if. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837. J Clin Invest. 2021. PMID: 33497358 Free PMC article.
Genetic and reproductive strategies to prevent mitochondrial diseases.
Castelluccio N, Spath K, Li D, De Coo IFM, Butterworth L, Wells D, Mertes H, Poulton J, Heindryckx B. Castelluccio N, et al. Among authors: de coo ifm. Hum Reprod Update. 2025 Jul 1;31(4):269-306. doi: 10.1093/humupd/dmaf004. Hum Reprod Update. 2025. PMID: 40085924 Review.
Consensus recommendations on Epilepsy in Phelan-McDermid syndrome.
de Coo IFM, Jesse S, Le TL, Sala C; European Phelan-McDermid syndrome consortium. de Coo IFM, et al. Eur J Med Genet. 2023 Jun;66(6):104746. doi: 10.1016/j.ejmg.2023.104746. Epub 2023 Mar 24. Eur J Med Genet. 2023. PMID: 36967043 Free article. Review.
Symptomatic Trigeminal Autonomic Cephalalgias.
de Coo IF, Wilbrink LA, Haan J. de Coo IF, et al. Curr Pain Headache Rep. 2015 Aug;19(8):39. doi: 10.1007/s11916-015-0514-z. Curr Pain Headache Rep. 2015. PMID: 26092512 Free PMC article. Review.
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: de coo ifm. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. Nat Commun. 2025. PMID: 40075072 Free PMC article.
146 results