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Page 1
ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN.
Groen EJ, Fumoto K, Blokhuis AM, Engelen-Lee J, Zhou Y, van den Heuvel DM, Koppers M, van Diggelen F, van Heest J, Demmers JA, Kirby J, Shaw PJ, Aronica E, Spliet WG, Veldink JH, van den Berg LH, Pasterkamp RJ. Groen EJ, et al. Among authors: blokhuis am. Hum Mol Genet. 2013 Sep 15;22(18):3690-704. doi: 10.1093/hmg/ddt222. Epub 2013 May 15. Hum Mol Genet. 2013. PMID: 23681068
Protein aggregation in amyotrophic lateral sclerosis.
Blokhuis AM, Groen EJ, Koppers M, van den Berg LH, Pasterkamp RJ. Blokhuis AM, et al. Acta Neuropathol. 2013 Jun;125(6):777-94. doi: 10.1007/s00401-013-1125-6. Epub 2013 May 15. Acta Neuropathol. 2013. PMID: 23673820 Free PMC article. Review.
Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways.
Blokhuis AM, Koppers M, Groen EJN, van den Heuvel DMA, Dini Modigliani S, Anink JJ, Fumoto K, van Diggelen F, Snelting A, Sodaar P, Verheijen BM, Demmers JAA, Veldink JH, Aronica E, Bozzoni I, den Hertog J, van den Berg LH, Pasterkamp RJ. Blokhuis AM, et al. Acta Neuropathol. 2016 Aug;132(2):175-196. doi: 10.1007/s00401-016-1575-8. Epub 2016 May 10. Acta Neuropathol. 2016. PMID: 27164932 Free PMC article.
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
Koppers M, Blokhuis AM, Westeneng HJ, Terpstra ML, Zundel CA, Vieira de Sá R, Schellevis RD, Waite AJ, Blake DJ, Veldink JH, van den Berg LH, Pasterkamp RJ. Koppers M, et al. Among authors: blokhuis am. Ann Neurol. 2015 Sep;78(3):426-38. doi: 10.1002/ana.24453. Epub 2015 Jul 3. Ann Neurol. 2015. PMID: 26044557 Free PMC article.
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, … See abstract for full author list ➔ van Rheenen W, et al. Among authors: blokhuis am. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.
Proteomic profiling of the spinal cord in ALS: decreased ATP5D levels suggest synaptic dysfunction in ALS pathogenesis.
Engelen-Lee J, Blokhuis AM, Spliet WGM, Pasterkamp RJ, Aronica E, Demmers JAA, Broekhuizen R, Nardo G, Bovenschen N, Van Den Berg LH. Engelen-Lee J, et al. Among authors: blokhuis am. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):210-220. doi: 10.1080/21678421.2016.1245757. Epub 2016 Nov 29. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 27899032
Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.
van Blitterswijk M, Blokhuis A, van Es MA, van Vught PW, Rowicka PA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH. van Blitterswijk M, et al. Neurobiol Aging. 2012 Aug;33(8):1845.e1-3. doi: 10.1016/j.neurobiolaging.2012.01.007. Epub 2012 Feb 11. Neurobiol Aging. 2012. PMID: 22330174
Lrig2 Negatively Regulates Ectodomain Shedding of Axon Guidance Receptors by ADAM Proteases.
van Erp S, van den Heuvel DMA, Fujita Y, Robinson RA, Hellemons AJCGM, Adolfs Y, Van Battum EY, Blokhuis AM, Kuijpers M, Demmers JAA, Hedman H, Hoogenraad CC, Siebold C, Yamashita T, Pasterkamp RJ. van Erp S, et al. Among authors: blokhuis am. Dev Cell. 2015 Dec 7;35(5):537-552. doi: 10.1016/j.devcel.2015.11.008. Dev Cell. 2015. PMID: 26651291 Free article.
The socioeconomic burden of facioscapulohumeral muscular dystrophy.
Blokhuis AM, Deenen JCW, Voermans NC, van Engelen BGM, Kievit W, Groothuis JT. Blokhuis AM, et al. J Neurol. 2021 Dec;268(12):4778-4788. doi: 10.1007/s00415-021-10591-w. Epub 2021 May 27. J Neurol. 2021. PMID: 34043041 Free PMC article.
11 results