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Novel no-stop FLNA mutation causes multi-organ involvement in males.
Oegema R, Hulst JM, Theuns-Valks SD, van Unen LM, Schot R, Mancini GM, Schipper ME, de Wit MC, Sibbles BJ, de Coo IF, Nanninga V, Hofstra RM, Halley DJ, Brooks AS. Oegema R, et al. Among authors: de coo if, de wit mc. Am J Med Genet A. 2013 Sep;161A(9):2376-84. doi: 10.1002/ajmg.a.36109. Epub 2013 Jul 19. Am J Med Genet A. 2013. PMID: 23873601
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S, Laquerriere A, Marguet F, Myers SJ, Hongjie Y, Baralle D, Vanderhasselt T, Stouffs K, Keymolen K, Kim S, Allen J, Shaulsky G, Chelly J, Marcorelle P, Aziza J, Villard L, Sacaze E, de Wit MCY, Wilke M, Mancini GMS, Hehr U, Lim D, Mansour S, Traynelis SF, Beneteau C, Denis-Musquer M, Jansen AC, Fry AE, Bahi-Buisson N. Brock S, et al. J Med Genet. 2023 Feb;60(2):183-192. doi: 10.1136/jmedgenet-2021-107971. Epub 2022 Apr 7. J Med Genet. 2023. PMID: 35393335 Free PMC article.
Outcome measures in Angelman syndrome.
Hagenaar DA, Bindels-de Heus KGCB, van Gils MM, van den Berg L, Ten Hoopen LW, Affourtit P, Pel JJM, Joosten KFM, Hillegers MHJ, Moll HA, de Wit MY, Dieleman GC, Mous SE. Hagenaar DA, et al. J Neurodev Disord. 2024 Mar 1;16(1):6. doi: 10.1186/s11689-024-09516-1. J Neurodev Disord. 2024. PMID: 38429713 Free PMC article.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: de wit mcy. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC article.
Clinical relevance of distinguishing autoimmune nodopathies from CIDP: longitudinal assessment in a large cohort.
Broers MC, Wieske L, Erdag E, Gürlek C, Bunschoten C, van Doorn PA, Eftimov F, Kuitwaard K, de Vries JM, de Wit MY, Nagtzaam MM, Franken SC, Zhu L, Paunovic M, de Wit M, Schreurs MW, Lleixà C, Martín-Aguilar L, Pascual-Goñi E, Querol L, Jacobs BC, Huizinga R, Titulaer MJ. Broers MC, et al. J Neurol Neurosurg Psychiatry. 2023 Dec 14;95(1):52-60. doi: 10.1136/jnnp-2023-331378. J Neurol Neurosurg Psychiatry. 2023. PMID: 37879898
Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
Müller AR, Luijten MAJ, Haverman L, de Ranitz-Greven WL, Janssens P, Rietman AB, Hoopen LWT, de Graaff LCG, de Wit MC, Jansen AC, Gipson T, Capal JK, de Vries PJ, van Eeghen AM. Müller AR, et al. Among authors: de wit mc. BMC Med. 2023 Oct 23;21(1):401. doi: 10.1186/s12916-023-03092-2. BMC Med. 2023. PMID: 37872559 Free PMC article. No abstract available.
Bone health in children with Angelman syndrome at the ENCORE Expertise Center.
Bindels-de Heus KGCB, Hagenaar DA, Mous SE, Dekker I, van der Kaay DCM, Kerkhof GF, Elgersma Y, Moll HA, de Wit MY. Bindels-de Heus KGCB, et al. Eur J Pediatr. 2024 Jan;183(1):103-111. doi: 10.1007/s00431-023-05231-6. Epub 2023 Oct 13. Eur J Pediatr. 2024. PMID: 37831301 Free PMC article.
94 results