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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. Among authors: farhan s. 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.
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration.
Farhan SMK, Dilliott AA, Ghani M, Sato C, Liang E, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, St George-Hyslop P, Bulman DE, Rogaeva E, Hegele RA; ONDRI Investigators. Farhan SMK, et al. NPJ Genom Med. 2016 Sep 21;1:16032. doi: 10.1038/npjgenmed.2016.32. eCollection 2016. NPJ Genom Med. 2016. PMID: 29263818 Free PMC article.
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium; Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Farhan SMK, et al. Nat Neurosci. 2019 Dec;22(12):1966-1974. doi: 10.1038/s41593-019-0530-0. Epub 2019 Nov 25. Nat Neurosci. 2019. PMID: 31768050 Free PMC article.
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.
Reichenstein I, Eitan C, Diaz-Garcia S, Haim G, Magen I, Siany A, Hoye ML, Rivkin N, Olender T, Toth B, Ravid R, Mandelbaum AD, Yanowski E, Liang J, Rymer JK, Levy R, Beck G, Ainbinder E, Farhan SMK, Lennox KA, Bode NM, Behlke MA, Möller T, Saxena S, Moreno CAM, Costaguta G, van Eijk KR, Phatnani H, Al-Chalabi A, Başak AN, van den Berg LH, Hardiman O, Landers JE, Mora JS, Morrison KE, Shaw PJ, Veldink JH, Pfaff SL, Yizhar O, Gross C, Brown RH Jr, Ravits JM, Harms MB, Miller TM, Hornstein E. Reichenstein I, et al. Among authors: farhan smk. Sci Transl Med. 2019 Dec 18;11(523):eaav5264. doi: 10.1126/scitranslmed.aav5264. Sci Transl Med. 2019. PMID: 31852800 Free PMC article.
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Khleifat AA, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium; Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Farhan SMK, et al. Nat Neurosci. 2020 Feb;23(2):295. doi: 10.1038/s41593-019-0570-5. Nat Neurosci. 2020. PMID: 31857710
Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene.
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A; Project MinE ALS Sequencing Consortium; Veldink JH, Kirby J, Snyder MP, Shaw PJ. Cooper-Knock J, et al. Among authors: farhan s. Cell Rep. 2020 Dec 1;33(9):108456. doi: 10.1016/j.celrep.2020.108456. Cell Rep. 2020. PMID: 33264630 Free PMC article.
Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene.
Cooper-Knock J, Zhang S, Kenna KP, Moll T, Franklin JP, Allen S, Nezhad HG, Iacoangeli A, Yacovzada NY, Eitan C, Hornstein E, Elhaik E, Celadova P, Bose D, Farhan S, Fishilevich S, Lancet D, Morrison KE, Shaw CE, Al-Chalabi A; Project MinE ALS Sequencing Consortium; Veldink JH, Kirby J, Snyder MP, Shaw PJ. Cooper-Knock J, et al. Among authors: farhan s. Cell Rep. 2021 Feb 2;34(5):108730. doi: 10.1016/j.celrep.2021.108730. Cell Rep. 2021. PMID: 33535055 Free PMC article. No abstract available.
Targeting Tau Mitigates Mitochondrial Fragmentation and Oxidative Stress in Amyotrophic Lateral Sclerosis.
Petrozziello T, Bordt EA, Mills AN, Kim SE, Sapp E, Devlin BA, Obeng-Marnu AA, Farhan SMK, Amaral AC, Dujardin S, Dooley PM, Henstridge C, Oakley DH, Neueder A, Hyman BT, Spires-Jones TL, Bilbo SD, Vakili K, Cudkowicz ME, Berry JD, DiFiglia M, Silva MC, Haggarty SJ, Sadri-Vakili G. Petrozziello T, et al. Among authors: farhan smk. Mol Neurobiol. 2022 Jan;59(1):683-702. doi: 10.1007/s12035-021-02557-w. Epub 2021 Nov 10. Mol Neurobiol. 2022. PMID: 34757590
Novel genetic variants in MAPT and alterations in tau phosphorylation in amyotrophic lateral sclerosis post-mortem motor cortex and cerebrospinal fluid.
Petrozziello T, Amaral AC, Dujardin S, Farhan SMK, Chan J, Trombetta BA, Kivisäkk P, Mills AN, Bordt EA, Kim SE, Dooley PM, Commins C, Connors TR, Oakley DH, Ghosal A, Gomez-Isla T, Hyman BT, Arnold SE, Spires-Jones T, Cudkowicz ME, Berry JD, Sadri-Vakili G. Petrozziello T, et al. Among authors: farhan smk. Brain Pathol. 2022 Mar;32(2):e13035. doi: 10.1111/bpa.13035. Epub 2021 Nov 14. Brain Pathol. 2022. PMID: 34779076 Free PMC article.
264 results