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102 results

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Page 1
Raised Intracranial Pressure in Seizures Induced by Electroconvulsive Therapy.
Spoor JKH, Hollestelle RVA, Birkenhager TK, De Wit MY, Haitsma IK, Mathijssen IMJ, van Veelen MC, Kamp MA, Pluijms E, Klimek M, Neuteboom R, Maissan I, Dibué M. Spoor JKH, et al. Eur J Neurol. 2025 Apr;32(4):e70149. doi: 10.1111/ene.70149. Eur J Neurol. 2025. PMID: 40237234 Free PMC article.
Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.
Hagenaar DA, Mous SE, Ten Hoopen LW, Rietman AB, Hiralal KR, Bindels-de Heus KGCB, de Nijs PFA, Mohr TC, Lens EJ, Hillegers MHJ, Moll HA, de Wit MY, Dieleman GC. Hagenaar DA, et al. Autism Res. 2025 Apr;18(4):870-880. doi: 10.1002/aur.70017. Epub 2025 Mar 21. Autism Res. 2025. PMID: 40116126 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 A, Subr… See abstract for full author list ➔ Groeneweg S, et al. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. Nat Commun. 2025. PMID: 40075072 Free PMC article.
Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Verbinnen I, Douzgou Houge S, Hsieh TC, Lesmann H, Kirchhoff A, Geneviève D, Brimble E, Lenaerts L, Haesen D, Levy RJ, Thevenon J, Faivre L, Marco E, Chong JX, Bamshad M, Patterson K, Mirzaa GM, Foss K, Dobyns W, White SM, Pais L, O'Heir E, Itzikowitz R, Donald KA, Van der Merwe C, Mussa A, Cervini R, Giorgio E, Roscioli T, Dias KR, Evans CA, Brown NJ, Ruiz A, Trujillo Quintero JP, Rabin R, Pappas J, Yuan H, Lachlan K, Thomas S, Devlin A, Wright M, Martin R, Karwowska J, Posmyk R, Chatron N, Stark Z, Heath O, Delatycki M, Buchert R, Korenke GC, Ramsey K, Narayanan V, Grange DK, Weisenberg JL, Haack TB, Karch S, Kipkemoi P, Mangi M, Bindels de Heus KGCB, de Wit MY, Barakat TS, Lim D, Van Winckel G, Spillmann RC, Shashi V, Jacob M, Stehr AM; Undiagnosed Diseases Network; Krawitz P, Douzgos Houge G, Janssens V. Verbinnen I, et al. Am J Hum Genet. 2025 Mar 6;112(3):554-571. doi: 10.1016/j.ajhg.2025.01.021. Epub 2025 Feb 19. Am J Hum Genet. 2025. PMID: 39978342
Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.
Lubbers K, Hiralal KR, Dieleman GC, Hagenaar DA, Dierckx B, Legerstee JS, de Nijs PFA, Rietman AB, Oostenbrink R, Bindels-de Heus KGCB, de Wit MY, Hillegers MHJ, Ten Hoopen LW, Mous SE. Lubbers K, et al. J Autism Dev Disord. 2024 Oct 12. doi: 10.1007/s10803-024-06557-2. Online ahead of print. J Autism Dev Disord. 2024. PMID: 39395123
Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.
Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra A, Ramos FJ, Legius E, Moll HA, Elgersma Y, de Wit MY; ENCORE Expertise Center for NF1. Ottenhoff MJ, et al. Dev Med Child Neurol. 2025 Apr;67(4):537-549. doi: 10.1111/dmcn.16094. Epub 2024 Sep 28. Dev Med Child Neurol. 2025. PMID: 39340758 Free PMC article. Clinical Trial.
Dementia in Rare Genetic Neurodevelopmental Disorders: A Systematic Literature Review.
Kwetsie H, van Schaijk M, Van Der Lee S, Maes-Festen D, Ten Hoopen LW, van Haelst MM, Coesmans M, Van Den Berg E, De Wit MCY, Pijnenburg Y, Aronica E, Boot E, Van Eeghen AM. Kwetsie H, et al. Among authors: de wit mcy. Neurology. 2024 Jun 11;102(11):e209413. doi: 10.1212/WNL.0000000000209413. Epub 2024 May 17. Neurology. 2024. PMID: 38759134 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.
102 results