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Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ. Sun Y, et al. Among authors: brusse e. Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11. Hum Mutat. 2013. PMID: 23418007
Muscle cramps and contractures: causes and treatment.
Dijkstra JN, Boon E, Kruijt N, Brusse E, Ramdas S, Jungbluth H, van Engelen BGM, Walters J, Voermans NC. Dijkstra JN, et al. Among authors: brusse e. Pract Neurol. 2023 Feb;23(1):23-34. doi: 10.1136/pn-2022-003574. Epub 2022 Dec 15. Pract Neurol. 2023. PMID: 36522175 Review.
Persistence of seroconversion at 6 months following primary immunisation in patients with immune-mediated inflammatory diseases.
Wieske L, Stalman EW, van Dam PJK, Kummer LY, Steenhuis M, van Kempen ZLE, Killestein J, Volkers AG, Tas SW, Boekel L, Wolbink G, Van der Kooi A, Raaphorst J, Löwenberg M, Takkenberg B, D'Haens GRAM, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Voskuyl A, Broens B, Parra Sanchez A, van Els CACM, Wit J, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart CF, Teng YKO, van Paassen P, Busch MH, Jallah PBP, Brusse E, van Doorn PA, Baars AE, Hijnen D, Schreurs CRG, Van der Pol WL, Goedee HS, Keijzer S, Keijser J, Cristianawati O, Ten Brinke A, Verstegen NJM, Zwinderman KAH, van Ham SM, Kuijpers TW, Rispens T, Eftimov F; T2B! immunity against SARS-CoV-2 study group. Wieske L, et al. Among authors: brusse e. Ann Rheum Dis. 2023 Jun;82(6):883-885. doi: 10.1136/ard-2022-223464. Epub 2023 Jan 31. Ann Rheum Dis. 2023. PMID: 36720583 No abstract available.
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
Ditters IAM, van Kooten HA, van der Beek NAME, Hardon JF, Ismailova G, Brusse E, Kruijshaar ME, van der Ploeg AT, van den Hout JMP, Huidekoper HH. Ditters IAM, et al. Among authors: brusse e. BioDrugs. 2023 Sep;37(5):685-698. doi: 10.1007/s40259-023-00609-2. Epub 2023 Jun 16. BioDrugs. 2023. PMID: 37326923 Free PMC article.
mRNA-1273 vaccinated inflammatory bowel disease patients receiving TNF inhibitors develop broad and robust SARS-CoV-2-specific CD8+ T cell responses.
van den Dijssel J, Duurland MC, Konijn VA, Kummer LY, Hagen RR, Kuijper LH, Wieske L, van Dam KP, Stalman EW, Steenhuis M, Geerdes DM, Mok JY, Kragten AH, Menage C, Koets L, Veldhuisen B, Verstegen NJ, van der Schoot CE, van Esch WJ, D'Haens GR, Löwenberg M, Volkers AG, Rispens T, Kuijpers TW, Eftimov F, van Gisbergen KP, van Ham SM, Ten Brinke A, van de Sandt CE; T2B! immunity against SARS-CoV-2 study group. van den Dijssel J, et al. J Autoimmun. 2024 Apr;144:103175. doi: 10.1016/j.jaut.2024.103175. Epub 2024 Feb 21. J Autoimmun. 2024. PMID: 38387105 Free article.
T cell activation markers CD38 and HLA-DR indicative of non-seroconversion in anti-CD20-treated patients with multiple sclerosis following SARS-CoV-2 mRNA vaccination.
Verstegen NJM, Hagen RR, Kreher C, Kuijper LH, Dijssel JVD, Ashhurst T, Kummer LYL, Palomares Cabeza V, Steenhuis M, Duurland MC, Jongh R, Schoot CEV, Konijn VAL, Mul E, Kedzierska K, van Dam KPJ, Stalman EW, Boekel L, Wolbink G, Tas SW, Killestein J, Rispens T, Wieske L, Kuijpers TW, Eftimov F, van Kempen ZLE, van Ham SM, Ten Brinke A, van de Sandt CE; T2B! immunity against SARS-CoV-2 study group. Verstegen NJM, et al. J Neurol Neurosurg Psychiatry. 2024 Aug 16;95(9):855-864. doi: 10.1136/jnnp-2023-332224. J Neurol Neurosurg Psychiatry. 2024. PMID: 38548324 Free PMC article.
SARS-CoV-2 omicron breakthrough infections in patients with multiple sclerosis.
van Kempen ZLE, Stalman EW, Steenhuis M, Kummer LYL, van Dam KPJ, Wilbrink MF, Ten Brinke A, van Ham SM, Kuijpers T, Rispens T, Eftimov F, Wieske L, Killestein J; T2B! immunity against SARS-CoV-2 study group. van Kempen ZLE, et al. J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):280-283. doi: 10.1136/jnnp-2022-330100. Epub 2022 Dec 23. J Neurol Neurosurg Psychiatry. 2023. PMID: 36564175
77 results