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2010 1
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106 results

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Page 1
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Kotulska K, et al. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. Ann Neurol. 2021. PMID: 33180985 Free PMC article. Clinical Trial.
Altered perivascular fibroblast activity precedes ALS disease onset.
Månberg A, Skene N, Sanders F, Trusohamn M, Remnestål J, Szczepińska A, Aksoylu IS, Lönnerberg P, Ebarasi L, Wouters S, Lehmann M, Olofsson J, von Gohren Antequera I, Domaniku A, De Schaepdryver M, De Vocht J, Poesen K, Uhlén M, Anink J, Mijnsbergen C, Vergunst-Bosch H, Hübers A, Kläppe U, Rodriguez-Vieitez E, Gilthorpe JD, Hedlund E, Harris RA, Aronica E, Van Damme P, Ludolph A, Veldink J, Ingre C, Nilsson P, Lewandowski SA. Månberg A, et al. Among authors: anink j. Nat Med. 2021 Apr;27(4):640-646. doi: 10.1038/s41591-021-01295-9. Epub 2021 Apr 15. Nat Med. 2021. PMID: 33859435 Free PMC article.
Activated Wake Systems in Narcolepsy Type 1.
Shan L, Linssen S, Harteman Z, den Dekker F, Shuker L, Balesar R, Breesuwsma N, Anink J, Zhou J, Lammers GJ, Swaab DF, Fronczek R. Shan L, et al. Among authors: anink j. Ann Neurol. 2023 Oct;94(4):762-771. doi: 10.1002/ana.26736. Epub 2023 Jul 19. Ann Neurol. 2023. PMID: 37395722
mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes.
Zwakenberg S, Westland D, van Es RM, Rehmann H, Anink J, Ciapaite J, Bosma M, Stelloo E, Liv N, Sobrevals Alcaraz P, Verhoeven-Duif NM, Jans JJM, Vos HR, Aronica E, Zwartkruis FJT. Zwakenberg S, et al. Among authors: anink j. Mol Cell. 2024 Nov 21;84(22):4368-4384.e6. doi: 10.1016/j.molcel.2024.10.009. Epub 2024 Oct 31. Mol Cell. 2024. PMID: 39486419 Free article.
Translocator protein is a marker of activated microglia in rodent models but not human neurodegenerative diseases.
Nutma E, Fancy N, Weinert M, Tsartsalis S, Marzin MC, Muirhead RCJ, Falk I, Breur M, de Bruin J, Hollaus D, Pieterman R, Anink J, Story D, Chandran S, Tang J, Trolese MC, Saito T, Saido TC, Wiltshire KH, Beltran-Lobo P, Phillips A, Antel J, Healy L, Dorion MF, Galloway DA, Benoit RY, Amossé Q, Ceyzériat K, Badina AM, Kövari E, Bendotti C, Aronica E, Radulescu CI, Wong JH, Barron AM, Smith AM, Barnes SJ, Hampton DW, van der Valk P, Jacobson S, Howell OW, Baker D, Kipp M, Kaddatz H, Tournier BB, Millet P, Matthews PM, Moore CS, Amor S, Owen DR. Nutma E, et al. Among authors: anink j. Nat Commun. 2023 Aug 28;14(1):5247. doi: 10.1038/s41467-023-40937-z. Nat Commun. 2023. PMID: 37640701 Free PMC article.
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.
Huschner F, Głowacka-Walas J, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, Anink JJ, Mühlebner A, Mijnsbergen C, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Blazejczyk M, Jansen FE, Janson S, Urbanska M, Tempes A, Janssen B, Sijko K, Wojdan K, Jozwiak S, Kotulska K, Lehmann K, Aronica E, Jaworski J, Kwiatkowski DJ. Huschner F, et al. Among authors: anink jj. Nat Commun. 2023 Nov 23;14(1):7664. doi: 10.1038/s41467-023-42855-6. Nat Commun. 2023. PMID: 37996417 Free PMC article.
The cycad genotoxin methylazoxymethanol, linked to Guam ALS/PDC, induces transcriptional mutagenesis.
Verheijen BM, Chung C, Thompson B, Kim H, Nakahara A, Anink JJ, Mills JD; NYGC ALS Consortium; Lee JH, Aronica E, Oyanagi K, Kakita A, Gout JF, Vermulst M. Verheijen BM, et al. Among authors: anink jj. Acta Neuropathol Commun. 2024 Feb 21;12(1):30. doi: 10.1186/s40478-024-01725-y. Acta Neuropathol Commun. 2024. PMID: 38383591 Free PMC article. No abstract available.
A clinical and genotype-phenotype analysis of MACF1 variants.
Dekker J, Schot R, Aldinger KA, Everman DB, Washington C, Jones JR, Sullivan JA, Spillmann RC, Shashi V, Vitobello A, Denommé-Pichon AS, Mosca-Boidron AL, Perrin L, Auvin S, Zaki MS, Gleeson JG, Meave N, Wallace C, Nambot S, Delanne J, Ruggiero SM, Helbig I, Fitzgerald MP, Leventer RJ, Grange DK, Argilli E, Sherr EH, Prakash S, Neilson DE, Nicita F, Sferra A, Bertini ES, Aiello C, Brockmann K, Kuranov AB, Kaulfuss S, Basit S, Alluqmani M, Almatrafi A, Friedman JM, Guimond C, Mohammed F, Sharma P, Goel D, Wirth T, Anheim M, Bahena P, Koparir A, Kolokotronis K, Vona B, Haaf T, Kunstmann E, Maroofian R, Sczakiel HL, Boschann F, Misra-Isrie M, Louie RJ, Stolerman ES, Sanchez-Lara PA, Mergler S, Oegema R, Zarate YA, Kariminejad A, Tajsharghi H, Zeidler S, Kievit AJA, Bouman A, Cappuccio G, Brunetti-Pierri N, Stuurman KE, Swols DM, Tekin M, Upadia J, Martin DM, Craven D, Hiatt SM, van de Pol LA, D'Arco F, Margot H, Wilke M, Yousefi S, Barakat TS, van Veghel-Plandsoen MM, Aronica E, Anink J, Rogers SL, Slep KC, Doherty D, Dobyns WB, Mancini GMS. Dekker J, et al. Among authors: anink j. Am J Hum Genet. 2025 Oct 2;112(10):2363-2380. doi: 10.1016/j.ajhg.2025.08.010. Epub 2025 Sep 8. Am J Hum Genet. 2025. PMID: 40925378
Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes.
Haglund A, Zuber V, Abouzeid M, Yang Y, Ko JH, Wiemann L, Otero-Jimenez M, Muhammed L, Feleke R, Nott A, Mills JD, Laaniste L, Gveric DO, Clode D, Babtie AC, Pagni S, Bellampalli R, Somani A, McDade K, Anink JJ, Mesarosova L, Fancy N, Willumsen N, Smith A, Jackson J, Alegre-Abarrategui J, Aronica E, Matthews PM, Thom M, Sisodiya SM, Srivastava PK, Malhotra D, Bryois J, Bottolo L, Johnson MR. Haglund A, et al. Among authors: anink jj. Nat Genet. 2025 Feb;57(2):358-368. doi: 10.1038/s41588-024-02050-9. Epub 2025 Jan 10. Nat Genet. 2025. PMID: 39794547 Free PMC article.
106 results