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Page 1
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Among authors: rochtus a. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Hannes L, Atzori M, Goldenberg A, Argente J, Attie-Bitach T, Amiel J, Attanasio C, Braslavsky DG, Bruel AL, Castanet M, Dubourg C, Jacobs A, Lyonnet S, Martinez-Mayer J, Pérez Millán MI, Pezzella N, Pelgrims E, Aerden M, Bauters M, Rochtus A, Scaglia P, Swillen A, Sifrim A, Tammaro R, Mau-Them FT, Odent S, Thauvin-Robinet C, Franco B, Breckpot J. Hannes L, et al. Among authors: rochtus a. Genet Med. 2024 Apr;26(4):101059. doi: 10.1016/j.gim.2023.101059. Epub 2023 Dec 27. Genet Med. 2024. PMID: 38158857
SARS-CoV-2 Infection and Development of Islet Autoimmunity in Early Childhood.
Lugar M, Eugster A, Achenbach P, von dem Berge T, Berner R, Besser REJ, Casteels K, Elding Larsson H, Gemulla G, Kordonouri O, Lindner A, Lundgren M, Müller D, Oltarzewski M, Rochtus A, Scholz M, Szypowska A, Todd JA, Ziegler AG, Bonifacio E; GPPAD Study Group. Lugar M, et al. Among authors: rochtus a. JAMA. 2023 Sep 26;330(12):1151-1160. doi: 10.1001/jama.2023.16348. JAMA. 2023. PMID: 37682551 Free PMC article.
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome.
Bhalla K, Rosier K, Monnens Y, Meulemans S, Vervoort E, Thorrez L, Agostinis P, Meier DT, Rochtus A, Resnick JL, Creemers JWM. Bhalla K, et al. Among authors: rochtus a. Biochim Biophys Acta Mol Basis Dis. 2024 Jun;1870(5):167175. doi: 10.1016/j.bbadis.2024.167175. Epub 2024 Apr 16. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38626828 Free article.
A disease-associated missense mutation in CYP4F3 affects the metabolism of leukotriene B4 via disruption of electron transfer.
Smeets E, Huang S, Lee XY, Van Nieuwenhove E, Helsen C, Handle F, Moris L, El Kharraz S, Eerlings R, Devlies W, Willemsen M, Bücken L, Prezzemolo T, Humblet-Baron S, Voet A, Rochtus A, Van Schepdael A, de Zegher F, Claessens F. Smeets E, et al. Among authors: rochtus a. J Cachexia Sarcopenia Muscle. 2022 Aug;13(4):2242-2253. doi: 10.1002/jcsm.13022. Epub 2022 Jun 9. J Cachexia Sarcopenia Muscle. 2022. PMID: 35686338 Free PMC article.
Etiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series.
Tack LJW, Brachet C, Beauloye V, Heinrichs C, Boros E, De Waele K, van der Straaten S, Van Aken S, Craen M, Lemay A, Rochtus A, Casteels K, Beckers D, Mouraux T, Logghe K, Van Loocke M, Massa G, Van de Vijver K, Syryn H, Van De Velde J, De Baere E, Verdin H, Cools M. Tack LJW, et al. Among authors: rochtus a. Hum Reprod Open. 2023 Dec 1;2023(4):hoad047. doi: 10.1093/hropen/hoad047. eCollection 2023. Hum Reprod Open. 2023. PMID: 39659563 Free PMC article.
34 results