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2016 1
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2019 15
2020 6
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67 results

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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis.
Zhang S, Cooper-Knock J, Weimer AK, Shi M, Moll T, Marshall JNG, Harvey C, Nezhad HG, Franklin J, Souza CDS, Ning K, Wang C, Li J, Dilliott AA, Farhan S, Elhaik E, Pasniceanu I, Livesey MR, Eitan C, Hornstein E, Kenna KP; Project MinE ALS Sequencing Consortium; Veldink JH, Ferraiuolo L, Shaw PJ, Snyder MP. Zhang S, et al. Neuron. 2022 Mar 16;110(6):992-1008.e11. doi: 10.1016/j.neuron.2021.12.019. Epub 2022 Jan 18. Neuron. 2022. PMID: 35045337 Free PMC article.
Diagnostic Value of Cerebrospinal Fluid Neurofilament Light Protein in Neurology: A Systematic Review and Meta-analysis.
Bridel C, van Wieringen WN, Zetterberg H, Tijms BM, Teunissen CE; and the NFL Group; Alvarez-Cermeño JC, Andreasson U, Axelsson M, Bäckström DC, Bartos A, Bjerke M, Blennow K, Boxer A, Brundin L, Burman J, Christensen T, Fialová L, Forsgren L, Frederiksen JL, Gisslén M, Gray E, Gunnarsson M, Hall S, Hansson O, Herbert MK, Jakobsson J, Jessen-Krut J, Janelidze S, Johannsson G, Jonsson M, Kappos L, Khademi M, Khalil M, Kuhle J, Landén M, Leinonen V, Logroscino G, Lu CH, Lycke J, Magdalinou NK, Malaspina A, Mattsson N, Meeter LH, Mehta SR, Modvig S, Olsson T, Paterson RW, Pérez-Santiago J, Piehl F, Pijnenburg YAL, Pyykkö OT, Ragnarsson O, Rojas JC, Romme Christensen J, Sandberg L, Scherling CS, Schott JM, Sellebjerg FT, Simone IL, Skillbäck T, Stilund M, Sundström P, Svenningsson A, Tortelli R, Tortorella C, Trentini A, Troiano M, Turner MR, van Swieten JC, Vågberg M, Verbeek MM, Villar LM, Visser PJ, Wallin A, Weiss A, Wikkelsø C, Wild EJ. Bridel C, et al. JAMA Neurol. 2019 Sep 1;76(9):1035-1048. doi: 10.1001/jamaneurol.2019.1534. JAMA Neurol. 2019. PMID: 31206160 Free PMC article.
Opinion: more mouse models and more translation needed for ALS.
Fisher EMC, Greensmith L, Malaspina A, Fratta P, Hanna MG, Schiavo G, Isaacs AM, Orrell RW, Cunningham TJ, Arozena AA. Fisher EMC, et al. Mol Neurodegener. 2023 May 4;18(1):30. doi: 10.1186/s13024-023-00619-2. Mol Neurodegener. 2023. PMID: 37143081 Free PMC article. Review.
Towards a TDP-43-Based Biomarker for ALS and FTLD.
Feneberg E, Gray E, Ansorge O, Talbot K, Turner MR. Feneberg E, et al. Mol Neurobiol. 2018 Oct;55(10):7789-7801. doi: 10.1007/s12035-018-0947-6. Epub 2018 Feb 19. Mol Neurobiol. 2018. PMID: 29460270 Free PMC article. Review.
Biomarkers in Motor Neuron Disease: A State of the Art Review.
Verber NS, Shepheard SR, Sassani M, McDonough HE, Moore SA, Alix JJP, Wilkinson ID, Jenkins TM, Shaw PJ. Verber NS, et al. Front Neurol. 2019 Apr 3;10:291. doi: 10.3389/fneur.2019.00291. eCollection 2019. Front Neurol. 2019. PMID: 31001186 Free PMC article. Review.
microRNA-based predictor for diagnosis of frontotemporal dementia.
Magen I, Yacovzada NS, Warren JD, Heller C, Swift I, Bobeva Y, Malaspina A, Rohrer JD, Fratta P, Hornstein E. Magen I, et al. Neuropathol Appl Neurobiol. 2023 Aug;49(4):e12916. doi: 10.1111/nan.12916. Neuropathol Appl Neurobiol. 2023. PMID: 37317649
NOS1AP is a novel molecular target and critical factor in TDP-43 pathology.
Cappelli S, Spalloni A, Feiguin F, Visani G, Šušnjar U, Brown AL; NYGC ALS Consortium; De Bardi M, Borsellino G, Secrier M, Phatnani H, Romano M, Fratta P, Longone P, Buratti E. Cappelli S, et al. Brain Commun. 2022 Sep 23;4(5):fcac242. doi: 10.1093/braincomms/fcac242. eCollection 2022. Brain Commun. 2022. PMID: 36267332 Free PMC article.
67 results