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Items: 1 to 20 of 139

1.

Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis.

Tsai PC, Liao YC, Chen PL, Guo YC, Chen YH, Jih KY, Lin KP, Soong BW, Tsai CP, Lee YC.

Neurobiol Aging. 2018 Feb;62:243.e1-243.e6. doi: 10.1016/j.neurobiolaging.2017.09.031. Epub 2017 Oct 9.

PMID:
29102476
2.

Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis.

Tsai PC, Liu YC, Lin KP, Liu YT, Liao YC, Hsiao CT, Soong BW, Yip PK, Lee YC.

Neurobiol Aging. 2016 Apr;40:191.e11-191.e16. doi: 10.1016/j.neurobiolaging.2015.12.022. Epub 2016 Jan 5.

PMID:
26804609
3.

Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.

Lin KP, Tsai PC, Liao YC, Chen WT, Tsai CP, Soong BW, Lee YC.

Neurobiol Aging. 2015 May;36(5):2005.e1-4. doi: 10.1016/j.neurobiolaging.2015.02.008. Epub 2015 Feb 14.

PMID:
25771394
4.

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.

Soong BW, Lin KP, Guo YC, Lin CC, Tsai PC, Liao YC, Lu YC, Wang SJ, Tsai CP, Lee YC.

Neurobiol Aging. 2014 Oct;35(10):2423.e1-6. doi: 10.1016/j.neurobiolaging.2014.05.008. Epub 2014 May 11.

PMID:
24908169
5.

Mutations of CCNF gene is rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia from Mainland China.

Pan C, Jiao B, Xiao T, Hou L, Zhang W, Liu X, Xu J, Tang B, Shen L.

Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):265-268. doi: 10.1080/21678421.2017.1293111. Epub 2017 Mar 10.

PMID:
28281833
6.

Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.

Lee A, Rayner SL, Gwee SSL, De Luca A, Shahheydari H, Sundaramoorthy V, Ragagnin A, Morsch M, Radford R, Galper J, Freckleton S, Shi B, Walker AK, Don EK, Cole NJ, Yang S, Williams KL, Yerbury JJ, Blair IP, Atkin JD, Molloy MP, Chung RS.

Cell Mol Life Sci. 2018 Jan;75(2):335-354. doi: 10.1007/s00018-017-2632-8. Epub 2017 Aug 29.

PMID:
28852778
7.

Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.

Zhou Q, Chen Y, Wei Q, Cao B, Wu Y, Zhao B, Ou R, Yang J, Chen X, Hadano S, Shang HF.

Mol Neurobiol. 2017 Jul;54(5):3189-3194. doi: 10.1007/s12035-016-9888-0. Epub 2016 Apr 7.

PMID:
27056076
8.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP.

Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253.

9.

Two distinct clinical features and cognitive impairment in amyotrophic lateral sclerosis patients with TARDBP gene mutations in the Chinese population.

Ju X, Liu W, Li X, Liu N, Zhang N, Liu T, Deng M.

Neurobiol Aging. 2016 Feb;38:216.e1-216.e6. doi: 10.1016/j.neurobiolaging.2015.10.032. Epub 2015 Nov 5.

PMID:
26639158
10.

Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.

Zou ZY, Peng Y, Feng XH, Wang XN, Sun Q, Liu MS, Li XG, Cui LY.

Eur J Neurol. 2012 Jul;19(7):977-83. doi: 10.1111/j.1468-1331.2012.03662.x. Epub 2012 Feb 16.

PMID:
22340366
11.

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.

Hogan AL, Don EK, Rayner SL, Lee A, Laird AS, Watchon M, Winnick C, Tarr IS, Morsch M, Fifita JA, Gwee SSL, Formella I, Hortle E, Yuan KC, Molloy MP, Williams KL, Nicholson GA, Chung RS, Blair IP, Cole NJ.

Hum Mol Genet. 2017 Jul 15;26(14):2616-2626. doi: 10.1093/hmg/ddx136. Erratum in: Hum Mol Genet. 2019 Feb 15;28(4):698.

PMID:
28444311
12.

The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia.

McCann EP, Williams KL, Fifita JA, Tarr IS, O'Connor J, Rowe DB, Nicholson GA, Blair IP.

Clin Genet. 2017 Sep;92(3):259-266. doi: 10.1111/cge.12973. Epub 2017 Mar 30.

PMID:
28105640
13.

Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort.

Zou ZY, Wang XN, Liu MS, Sun Q, Li XG, Cui LY, Kong J.

Amyotroph Lateral Scler. 2012 May;13(3):270-5. doi: 10.3109/17482968.2011.643900. Epub 2012 Jan 31.

PMID:
22292798
14.

Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.

Yang S, Fifita JA, Williams KL, Warraich ST, Pamphlett R, Nicholson GA, Blair IP.

Neurobiol Aging. 2013 Sep;34(9):2235.e7-10. doi: 10.1016/j.neurobiolaging.2013.04.003. Epub 2013 Apr 28.

PMID:
23635659
15.

Mutation analysis of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Yuan Z, Jiao B, Hou L, Xiao T, Liu X, Wang J, Xu J, Zhou L, Yan X, Tang B, Shen L.

Neurobiol Aging. 2018 Apr;64:160.e9-160.e12. doi: 10.1016/j.neurobiolaging.2017.12.017. Epub 2017 Dec 27.

PMID:
29370934
16.

CHCHD10 mutations in patients with amyotrophic lateral sclerosis in Mainland China.

Shen S, He J, Tang L, Zhang N, Fan D.

Neurobiol Aging. 2017 Jun;54:214.e7-214.e10. doi: 10.1016/j.neurobiolaging.2017.02.011. Epub 2017 Feb 24.

PMID:
28318595
17.

Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.

Hou L, Jiao B, Xiao T, Zhou L, Zhou Z, Du J, Yan X, Wang J, Tang B, Shen L.

Sci Rep. 2016 Sep 8;6:32478. doi: 10.1038/srep32478.

18.

No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population.

Huang X, Shen S, Fan D.

PLoS One. 2017 Jan 26;12(1):e0170943. doi: 10.1371/journal.pone.0170943. eCollection 2017.

19.

Absence of mutations in exon 6 of the TARDBP gene in 207 Chinese patients with sporadic amyotrohic lateral sclerosis.

Ye CH, Lu XL, Zheng MY, Zhen J, Li ZP, Shi L, Liu ZY, Feng LY, Pei Z, Yao XL.

PLoS One. 2013 Jul 9;8(7):e68106. doi: 10.1371/journal.pone.0068106. Print 2013.

20.

DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis.

Liu X, Yang L, Tang L, Chen L, Liu X, Fan D.

PLoS One. 2017 Aug 8;12(8):e0182572. doi: 10.1371/journal.pone.0182572. eCollection 2017.

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