| 1 | ALSFTD1, C9orf72
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| The shared ancestry between the C9orf72 hexanucleotide repeat expansion and intermediate-length alleles using haplotype sharing trees and HAPTK.
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| Rautila OS, Kaivola K, Rautila H, Hokkanen L, Launes J, Strandberg TE, Laaksovirta H, Palmio J, Tienari PJ.
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| Am J Hum Genet. Feb 1;111(2):383-392. doi: 10.1016/j.ajhg.2023.12.019. Epub 2024 Jan 18. 2024
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| 2 | C9orf72, SMCR8
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| The C9orf72-SMCR8 complex suppresses primary ciliogenesis as a RAB8A GAP.
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| Tang D, Bao H, Qi S.
|
| Autophagy. Jan 31:1-3. doi: 10.1080/15548627.2024.2311541. Epub ahead of print. 2024
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| 3 | C9ORF72, DAXX
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| DNA-initiated epigenetic cascades driven by C9orf72 hexanucleotide repeat.
|
| Liu Y, Huang Z, Liu H, Ji Z, Arora A, Cai D, Wang H, Liu M, Simko EAJ, Zhang Y, Periz G, Liu Z, Wang J.
|
| Neuron. Apr 19;111(8):1205-1221.e9. doi: 10.1016/j.neuron.2023.01.022. Epub 2023 Feb 22. Erratum in: Neuron. 2023 Apr 19;111(8):1345 2023
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| 4 | C9orf72, SMCR8
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| C9orf72 protein quality control by UBR5-mediated heterotypic ubiquitin chains.
|
| Jülg J, Edbauer D, Behrends C
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| EMBO Rep. Aug 3;24(8):e55895. doi: 10.15252/embr.202255895. Epub 2023 Jun 15. 2023
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| 5 | C9orf72
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| C9orf72 functions in the nucleus to regulate DNA damage repair.
|
| He L, Liang J, Chen C, Chen J, Shen Y, Sun S, Li L.
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| Cell Death Differ. Mar;30(3):716-730. doi: 10.1038/s41418-022-01074-0. Epub 2022 Oct 11 2023
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| 6 | C9orf72, SMCR8, WDR41
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| Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral sclerosis
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| Chong ZZ, Menkes DL, Souayah N.
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| Rev Neurosci. Aug 2;35(1):85-97. doi: 10.1515/revneuro-2023-0060 2023
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| 7 | C9orf72, SMCR8, WDR41
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| The progress in C9orf72 research: ALS/FTD pathogenesis, functions and structure
|
| Jiang L, Zhang T, Lu K, Qi S.
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| Small GTPases Jan;13(1):56-76. doi: 10.1080/21541248.2021.1892443. Epub 2021 Mar 5. 2022
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| 8 | C9ORF72, TIMMDC1
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| C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
|
| Wang T, Liu H, Itoh K, Oh S, Zhao L, Murata D, Sesaki H, Hartung T, Na CH, Wang J
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| Cell Metab. Mar 2;33(3):531-546.e9. doi: 10.1016/j.cmet.2021.01.005. Epub 2021 Feb 4. 2021
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| 9 | C9orf72
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| C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.
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| Lall D, Lorenzini I, Mota TA, Bell S, Mahan TE, Ulrich JD, Davtyan H, Rexach JE, Muhammad AKMG, Shelest O, Landeros J, Vazquez M, Kim J, Ghaffari L, O'Rourke JG, Geschwind DH, Blurton-Jones M, Holtzman DM, Sattler R, Baloh RH.
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| Neuron Jul 21;109(14):2275-2291.e8. doi: 10.1016/j.neuron.2021.05.020. Epub 2021 Jun 15 2021
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| 10 | C9orf72
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| Glial Cell Dysfunction in C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
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| Ghasemi M, Keyhanian K, Douthwright C.
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| Cells. Jan 28;10(2):249. doi: 10.3390/cells10020249. 2021
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| 11 | C9orf72, STING1
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| Cellular and physiological functions of C9ORF72 and implications for ALS/FTD.
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| Pang W, Hu F.
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| J Neurochem. May;157(3):334-350. doi: 10.1111/jnc.15255. Epub 2020 Dec 18 2021
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| 12 | C9orf72, SMCR8, WDR41
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| Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture.
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| Nörpel J, Cavadini S, Schenk AD, Graff-Meyer A, Hess D, Seebacher J, Chao JA, Bhaskar V.
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| PLoS Biol. Jul 23;19(7):e3001344. doi: 10.1371/journal.pbio.3001344 2021
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| 13 | C9orf72, SMCR8, WDR41
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| The C9orf72-SMCR8-WDR41 complex is a GAP for small GTPases
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| Tang D, Sheng J, Xu L, Yan C, Qi S.
|
| Autophagy. Aug;16(8):1542-1543. doi: 10.1080/15548627.2020.1779473. Epub 2020 Jun 17 2020
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| 14 | C9orf72, PQLC2, WDR41
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| PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation.
|
| Amick J, Tharkeshwar AK, Talaia G, Ferguson SM.
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| J Cell Biol. Jan 6;219(1):e201906076. doi: 10.1083/jcb.201906076. 2020
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| 15 | C9orf72, SMCR8, WDR41
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| Structure of the C9orf72 ARF GAP complex that is haploinsufficient in ALS and FTD
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| Su MY, Fromm SA, Zoncu R, Hurley JH.
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| Nature. Sep;585(7824):251-255. doi: 10.1038/s41586-020-2633-x. Epub 2020 Aug 26. 2020
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| 16 | C9orf72, MTOR, SMCR8
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| SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis
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| Lan Y, Sullivan PM, Hu F.
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| Autophagy. May;15(5):871-885. doi: 10.1080/15548627.2019.1569914. Epub 2019 Jan 29 2019
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| 17 | ALSFTD1, C9orf72
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| Disease Mechanisms of C9ORF72 Repeat Expansions.
|
| Gendron TF, Petrucelli L.
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| Cold Spring Harb Perspect Med. Apr 2;8(4):a024224. doi: 10.1101/cshperspect.a024224. 2018
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| 18 | C9orf72, SMCR8, WDR41
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| WDR41 supports lysosomal response to changes in amino acid availability.
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| Amick J, Tharkeshwar AK, Amaya C, Ferguson SM.
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| Mol Biol Cell. Sep 1;29(18):2213-2227. doi: 10.1091/mbc.E17-12-0703. Epub 2018 Jul 11. 2018
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| 19 | C9orf72, SMCR8
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| The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis.
|
| Zhang Y, Burberry A, Wang JY, Sandoe J, Ghosh S, Udeshi ND, Svinkina T, Mordes DA, Mok J, Charlton M, Li QZ, Carr SA, Eggan K.
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| Genes Dev. Jul 1;32(13-14):929-943. doi: 10.1101/gad.313932.118. Epub 2018 Jun 27. 2018
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| 20 | C9ORF72, RAB29
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| C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.
|
| Aoki Y, Manzano R, Lee Y, Dafinca R, Aoki M, Douglas AG, Varela MA, Sathyaprakash C, Scaber J, Barbagallo P, Vader P, Mäger I, Ezzat K, Turner MR, Ito N, Gasco S, Ohbayashi N, El Andaloussi S, Takeda S, Fukuda M, Talbot K, Wood MJ.
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| Brain rain. 2017 Feb 23. doi: 10.1093/brain/awx024. [Epub ahead of print] 2017
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| 21 | C9ORF72
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| C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease.
|
| Amick J, Ferguson SM.
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| Traffic raffic. 2017 Mar 7. doi: 10.1111/tra.12477. [Epub ahead of print] Review.
2017
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| 22 | C9ORF72
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| Loss of C9orf72 function leads to autoimmunity.
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| Sakkas LI, Bogdanos DP, Kousvelari EE.
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| Ann Transl Med 5(3):60. doi: 10.21037/atm.2017.01.33. No abstract available.
2017
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| 23 | C9orf72, SMCR8, WDR41
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| C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease.
|
| Amick J, Ferguson SM.
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| Traffic May;18(5):267-276. doi: 10.1111/tra.12477. Epub 2017 Mar 23. 2017
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| 24 | C9ORF72
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| C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers.
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| Rizzu P, Blauwendraat C, Heetveld S, Lynes EM, Castillo-Lizardo M, Dhingra A, Pyz E, Hobert M, Synofzik M, Simón-Sánchez J, Francescatto M, Heutink P.
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| Acta Neuropathol Commun 4(1):37. doi: 10.1186/s40478-016-0306-7.
2016
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| 25 | C9ORF72
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| C9orf72 is required for proper macrophage and microglial function in mice.
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| O'Rourke JG, Bogdanik L, Yáńez A, Lall D, Wolf AJ, Muhammad AK, Ho R, Carmona S, Vit JP, Zarrow J, Kim KJ, Bell S, Harms MB, Miller TM, Dangler CA, Underhill DM, Goodridge HS, Lutz CM, Baloh RH.
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| Science 351(6279):1324-9. doi: 10.1126/science.aaf1064.
2016
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| 26 | ALSFTD1, C9orf72
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| Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
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| Niblock M, Smith BN, Lee YB, Sardone V, Topp S, Troakes C, Al-Sarraj S, Leblond CS, Dion PA, Rouleau GA, Shaw CE, Gallo JM.
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| Acta Neuropathol Commun 4:18. doi: 10.1186/s40478-016-0289-4.
2016
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| 27 | C9orf72, RAB1A
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| The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy
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| Webster CP, Smith EF, Bauer CS, Moller A, Hautbergue GM, Ferraiuolo L, Myszczynska MA, Higginbottom A, Walsh MJ, Whitworth AJ, Kaspar BK, Meyer K, Shaw PJ, Grierson AJ, De Vos KJ.
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| EMBO J. Aug 1;35(15):1656-76. doi: 10.15252/embj.201694401. Epub 2016 Jun 22. 2016
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| 28 | C9orf72, SMCR8
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| A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy.
|
| Yang M, Liang C, Swaminathan K, Herrlinger S, Lai F, Shiekhattar R, Chen JF.
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| Sci Adv. Sep 2;2(9):e1601167. doi: 10.1126/sciadv.1601167 2016
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| 29 | ALSFTD1, C9orf72
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| Jump from Pre-mutation to Pathologic Expansion in C9orf72.
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| Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, Baker MC, Graff-Radford NR, Boylan KB, Dickson DW, Mackenzie IR, Rademakers R, Robertson J, Zinman L, Rogaeva E.
|
| Am J Hum Genet 96(6):962-70. doi: 10.1016/j.ajhg.2015.04.016. Epub 2015 May 21.
2015
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| 30 | C9ORF72
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| Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers.
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| Walhout R, Schmidt R, Westeneng HJ, Verstraete E, Seelen M, van Rheenen W, de Reus MA, van Es MA, Hendrikse J, Veldink JH, van den Heuvel MP, van den Berg LH.
|
| Neurology 85(20):1780-8. doi: 10.1212/WNL.0000000000002135. Epub 2015 Oct 23.
2015
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| 31 | C9ORF72
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| Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers.
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| Walhout R, Schmidt R, Westeneng HJ, Verstraete E, Seelen M, van Rheenen W, de Reus MA, van Es MA, Hendrikse J, Veldink JH, van den Heuvel MP, van den Berg LH.
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| Neurology 85(20):1780-8. doi: 10.1212/WNL.0000000000002135. Epub 2015 Oct 23.
2015
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| 32 | C9orf72
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| The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
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| Zhang K, Donnelly CJ, Haeusler AR, Grima JC, Machamer JB, Steinwald P, Daley EL, Miller SJ, Cunningham KM, Vidensky S, Gupta S, Thomas MA, Hong I, Chiu SL, Huganir RL, Ostrow LW, Matunis MJ, Wang J, Sattler R, Lloyd TE, Rothstein JD.
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| Nature 525(7567):56-61. doi: 10.1038/nature14973. Epub 2015 Aug 26.
2015
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| 33 | ALYREF, C9ORF72
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| Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy
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| Cooper-Knock J, Higginbottom A, Stopford MJ, Highley JR, Ince PG, Wharton SB, Pickering-Brown S, Kirby J, Hautbergue GM, Shaw PJ.
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| Acta Neuropathol. Jul;130(1):63-75. doi: 10.1007/s00401-015-1429-9. Epub 2015 May 6. 2015
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| 34 | C9ORF72
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| C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder.
|
| Daoud H, Postuma RB, Bourassa CV, Rochefort D, Gauthier MT, Montplaisir J, Gagnon JF, Arnulf I, Dauvilliers Y, Charley CM, Inoue Y, Sasai T, Högl B, Desautels A, Frauscher B, Cochen De Cock V, Rouleau GA, Dion PA.
|
| Can J Neurol Sci 41(6):759-62. doi: 10.1017/cjn.2014.39. Epub 2014 Nov 4.
2014
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| 35 | ALSFTD1, ATXN2, C9orf72
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| Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.
|
| van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R.
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| Neurobiol Aging 35(10):2421.e13-7. doi: 10.1016/j.neurobiolaging.2014.04.016. Epub 2014 May 2.
2014
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| 36 | C9orf72
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| Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population.
|
| Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J, Mead S.
|
| Am J Hum Genet 92(3):345-53. doi: 10.1016/j.ajhg.2013.01.011. Epub 2013 Feb 21.
2013
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| 37 | C9orf72
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| Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation.
|
| Galimberti D, Fenoglio C, Serpente M, Villa C, Bonsi R, Arighi A, Fumagalli GG, Del Bo R, Bruni AC, Anfossi M, Clodomiro A, Cupidi C, Nacmias B, Sorbi S, Piaceri I, Bagnoli S, Bessi V, Marcone A, Cerami C, Cappa SF, Filippi M, Agosta F, Magnani G, Comi G, Franceschi M, Rainero I, Giordana M, Rubino E, Ferrero P, Rogaeva E, Xi Z, Confaloni A, Piscopo P, Bruno G, Talarico G, Cagnin A, Clerici F, Dell' Osso B, Comi GP, Altamura AC, Mariani C, Scarpini E.
|
| Biol Psychiatry iol Psychiatry. 2013 Mar 7. doi:pii: S0006-3223(13)00130-3. 10.1016/j.biopsych.2013.01.031. [Epub ahead of print]
2013
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| 38 | C9orf72
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| Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion.
|
| Xi Z, Zinman L, Moreno D, Schymick J, Liang Y, Sato C, Zheng Y, Ghani M, Dib S, Keith J, Robertson J, Rogaeva E.
|
| Am J Hum Genet m J Hum Genet. 2013 May 22. doi:pii: S0002-9297(13)00178-X. 10.1016/j.ajhg.2013.04.017. [Epub ahead of print]
2013
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| 39 | C9orf72
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| The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
|
| Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE.
|
| Eur J Hum Genet 21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13.
2013
|
| 40 | ALSFTD1, C9orf72
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| Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.
|
| Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA.
|
| Eur J Hum Genet 21(2):237-9. doi: 10.1038/ejhg.2012.135. Epub 2012 Jun 27.
2013
|
| 41 | C9orf72, FTDP17, FTDU17, GRN, MAPT
|
| Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics.
|
| Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA.
|
| Brain 135(Pt 3):794-806. doi: 10.1093/brain/aws001. 2012
|
| 42 | C9orf72
|
| Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features.
|
| Mahoney CJ, Beck J, Rohrer JD, Lashley T, Mok K, Shakespeare T, Yeatman T, Warrington EK, Schott JM, Fox NC, Rossor MN, Hardy J, Collinge J, Revesz T, Mead S, Warren JD.
|
| Brain 135(Pt 3):736-50. doi: 10.1093/brain/awr361.
2012
|
| 43 | C9orf72
|
| Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.
|
| Majounie E, Renton AE, Mok K, Dopper EG, Waite A, Rollinson S, Chiň A, Restagno G, Nicolaou N, Simon-Sanchez J, van Swieten JC, Abramzon Y, Johnson JO, Sendtner M, Pamphlett R, Orrell RW, Mead S, Sidle KC, Houlden H, Rohrer JD, Morrison KE, Pall H, Talbot K, Ansorge O; Chromosome 9-ALS/FTD Consortium; French research network on FTLD/FTLD/ALS; ITALSGEN Consortium, Hernandez DG, Arepalli S, Sabatelli M, Mora G, Corbo M, Giannini F, Calvo A, Englund E, Borghero G, Floris GL, Remes AM, Laaksovirta H, McCluskey L, Trojanowski JQ, Van Deerlin VM, Schellenberg GD, Nalls MA, Drory VE, Lu CS, Yeh TH, Ishiura H, Takahashi Y, Tsuji S, Le Ber I, Brice A, Drepper C, Williams N, Kirby J, Shaw P, Hardy J, Tienari PJ, Heutink P, Morris HR, Pickering-Brown S, Traynor BJ.
|
| Lancet Neurol 11(4):323-30. doi: 10.1016/S1474-4422(12)70043-1. Epub 2012 Mar 9.
2012
|
| 44 | C9orf72
|
| Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.
|
| Cooper-Knock J, Hewitt C, Highley JR, Brockington A, Milano A, Man S, Martindale J, Hartley J, Walsh T, Gelsthorpe C, Baxter L, Forster G, Fox M, Bury J, Mok K, McDermott CJ, Traynor BJ, Kirby J, Wharton SB, Ince PG, Hardy J, Shaw PJ.
|
| Brain 135(Pt 3):751-64. doi: 10.1093/brain/awr365.
2012
|
| 45 | C9orf72
|
| Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.
|
| van Rheenen W, van Blitterswijk M, Huisman MH, Vlam L, van Doormaal PT, Seelen M, Medic J, Dooijes D, de Visser M, van der Kooi AJ, Raaphorst J, Schelhaas HJ, van der Pol WL, Veldink JH, van den Berg LH.
|
| Neurology 79(9):878-82. doi: 10.1212/WNL.0b013e3182661d14. Epub 2012 Jul 25.
2012
|
| 46 | C9orf72
|
| Clinical phenotypes and genetic biomarkers of FTLD.
|
| Galimberti D, Scarpini E.
|
| J Neural Transm 119(7):851-60. doi: 10.1007/s00702-012-0804-0. Epub 2012 Apr 19. Review.
2012
|
| 47 | C9orf72
|
| Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes.
|
| Millecamps S, Boillée S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, Moigneu C, Vandenberghe N, Danel-Brunaud V, Corcia P, Pradat PF, Le Forestier N, Lacomblez L, Bruneteau G, Camu W, Brice A, Cazeneuve C, Leguern E, Meininger V, Salachas F.
|
| J Med Genet 49(4):258-63. doi: 10.1136/jmedgenet-2011-100699.
2012
|
| 48 | ALS8, ALSFTD1, C9orf72, VAPB
|
| VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
|
| van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.
|
| Neurobiol Aging 33(12):2950.e1-4. doi: 10.1016/j.neurobiolaging.2012.07.004. Epub 2012 Aug 9.
2012
|
| 49 | C9ORF72
|
| Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis.
|
| Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P.
|
| Hum Mol Genet 21(11):2412-9. doi: 10.1093/hmg/dds055. Epub 2012 Feb 17.
2012
|
| 50 | C9orf72
|
| Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72.
|
| Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW.
|
| Acta Neuropathol 122(6):673-90. doi: 10.1007/s00401-011-0907-y. Epub 2011 Nov 15.
2011
|
| 51 | C9orf72
|
| Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
|
| DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R.
|
| Neuron 72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.
2011
|
| 52 | ACTL7A, ACTL7B, ANKRD18B, ANKRD20A2, ANKRD20A3, ANKRD20A4, ARRDC1, C9orf114, C9orf118, C9orf122, C9orf123, C9orf125, C9orf130, C9orf134, C9orf135, C9orf142, C9orf29, C9orf71, C9orf72, CBWD6, CBWD7, CNTLN, DCTN3, DMRT3, FAM189A2, FAM27D1, FAM27E1, FAM27E2, FAM74A1, FAM74A3, FAM74A4, FAM75A1, FGD3, FOXB2, FOXD4, FOXD4L5, GLT6D1, IARS, KIAA1045, KIAA2026, MED27, MEGF9, MOST2, PALM2, RABEPK, RFX3, SCAI, SMU1, ZCCHC7, ZDHHC12
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| DNA sequence and analysis of human chromosome 9.
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