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105 results

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Page 1
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Jacquemin V, Versbraegen N, Duerinckx S, Massart A, Soblet J, Perazzolo C, Deconinck N, Brischoux-Boucher E, De Leener A, Revencu N, Janssens S, Moorgat S, Blaumeiser B, Avela K, Touraine R, Abou Jaoude I, Keymolen K, Saugier-Veber P, Lenaerts T, Abramowicz M, Pirson I. Jacquemin V, et al. Among authors: deconinck n. Hum Genomics. 2023 Mar 2;17(1):16. doi: 10.1186/s40246-023-00464-w. Hum Genomics. 2023. PMID: 36859317 Free PMC article.
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Among authors: deconinck n. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.
Smeets N, Gheldof A, Dequeker B, Poleur M, Maldonado Slootjes S, Van Parijs V, Deconinck N, Dontaine P, Alonso-Jimenez A, De Bleecker J, De Ridder W, Herdewyn S, Paquay S, Vanlander A, De Waele L, Peirens G, Beysen D, Claeys KG, Dubuisson N, Hansen I, Remiche G, Seneca S, Bissay V, Régal L. Smeets N, et al. Among authors: deconinck n. Pediatr Neurol. 2024 Sep;158:57-65. doi: 10.1016/j.pediatrneurol.2024.06.002. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38964204
Patients' Perceptions of Nusinersen Effects According to Their Responder Status.
Lilien C, Vrscaj E, Thapaliya G, Deconinck N, De Waele L, Duong T, Haberlová J, Kumhera M, Peirens G, Szabo L, Tahon V, Tang WJ, Benmhammed N, Médard L, Servais L. Lilien C, et al. Among authors: deconinck n. J Clin Med. 2024 Jun 11;13(12):3418. doi: 10.3390/jcm13123418. J Clin Med. 2024. PMID: 38929947 Free PMC article.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: deconinck n. Mov Disord. 2024 Jun;39(6):983-995. doi: 10.1002/mds.29754. Epub 2024 Apr 6. Mov Disord. 2024. PMID: 38581205
105 results