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Items: 1 to 20 of 103

1.

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.

Cooper-Knock J, Moll T, Ramesh T, Castelli L, Beer A, Robins H, Fox I, Niedermoser I, Van Damme P, Moisse M, Robberecht W, Hardiman O, Panades MP, Assialioui A, Mora JS, Basak AN, Morrison KE, Shaw CE, Al-Chalabi A, Landers JE, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M, McDermott CJ, Hautbergue GM, Kirby J, Shaw PJ.

Cell Rep. 2019 Feb 26;26(9):2298-2306.e5. doi: 10.1016/j.celrep.2019.02.006.

2.

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.

Cooper-Knock J, Robins H, Niedermoser I, Wyles M, Heath PR, Higginbottom A, Walsh T, Kazoka M; Project MinE ALS Sequencing Consortium, Ince PG, Hautbergue GM, McDermott CJ, Kirby J, Shaw PJ.

Front Mol Neurosci. 2017 Nov 9;10:370. doi: 10.3389/fnmol.2017.00370. eCollection 2017.

3.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA.

Hum Mol Genet. 2015 Mar 1;24(5):1363-73. doi: 10.1093/hmg/ddu545. Epub 2014 Oct 24.

4.

Hot-spot KIF5A mutations cause familial ALS.

Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET .

Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370.

5.

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.

Wu J, Shen E, Shi D, Sun Z, Cai T.

Genet Med. 2012 Sep;14(9):823-6. doi: 10.1038/gim.2012.50. Epub 2012 May 17.

PMID:
22595939
6.

Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R.

PLoS Genet. 2008 Sep 19;4(9):e1000193. doi: 10.1371/journal.pgen.1000193.

7.

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.

Teyssou E, Vandenberghe N, Moigneu C, Boillée S, Couratier P, Meininger V, Pradat PF, Salachas F, Leguern E, Millecamps S.

Neurobiol Aging. 2014 May;35(5):1213.e9-1213.e12. doi: 10.1016/j.neurobiolaging.2013.11.023. Epub 2013 Dec 3.

PMID:
24360741
8.

The role of heat shock proteins in Amyotrophic Lateral Sclerosis: The therapeutic potential of Arimoclomol.

Kalmar B, Lu CH, Greensmith L.

Pharmacol Ther. 2014 Jan;141(1):40-54. doi: 10.1016/j.pharmthera.2013.08.003. Epub 2013 Aug 23. Review.

PMID:
23978556
9.

Emerging understanding of the genotype-phenotype relationship in amyotrophic lateral sclerosis.

Goutman SA, Chen KS, Paez-Colasante X, Feldman EL.

Handb Clin Neurol. 2018;148:603-623. doi: 10.1016/B978-0-444-64076-5.00039-9. Review.

PMID:
29478603
10.

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J, Raphael AR, Daneshjou R, Gitler AD.

PLoS Genet. 2014 Oct 9;10(10):e1004704. doi: 10.1371/journal.pgen.1004704. eCollection 2014 Oct.

11.

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ.

PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872.

12.

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.

Gonzalez-Perez P, Woehlbier U, Chian RJ, Sapp P, Rouleau GA, Leblond CS, Daoud H, Dion PA, Landers JE, Hetz C, Brown RH.

Gene. 2015 Jul 25;566(2):158-65. doi: 10.1016/j.gene.2015.04.035. Epub 2015 Apr 22.

13.

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Millecamps S, De Septenville A, Teyssou E, Daniau M, Camuzat A, Albert M, LeGuern E, Galimberti D; French research network on FTD and FTD-ALS, Brice A, Marie Y, Le Ber I.

Neurobiol Aging. 2014 Dec;35(12):2882.e13-2882.e15. doi: 10.1016/j.neurobiolaging.2014.07.016. Epub 2014 Jul 18.

PMID:
25158920
14.

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.

15.

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, Blumbergs PC, Vucic S, Kiernan MC, Nicholson GA.

J Neurol Neurosurg Psychiatry. 2010 Jun;81(6):639-45. doi: 10.1136/jnnp.2009.194399. Epub 2009 Dec 3.

PMID:
19965854
16.

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis.

Fifita JA, Williams KL, McCann EP, O'Brien A, Bauer DC, Nicholson GA, Blair IP.

Neurobiol Aging. 2015 Mar;36(3):1602.e1-2. doi: 10.1016/j.neurobiolaging.2014.11.010. Epub 2014 Nov 20.

PMID:
25523636
17.

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, Raab P, Preller M, Petri S, Weber RG.

Eur J Hum Genet. 2017 Feb;25(3):324-331. doi: 10.1038/ejhg.2016.186. Epub 2017 Jan 4.

18.

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.

Kim HJ, Oh KW, Kwon MJ, Oh SI, Park JS, Kim YE, Choi BO, Lee S, Ki CS, Kim SH.

Neurobiol Aging. 2016 Jan;37:209.e9-209.e16. doi: 10.1016/j.neurobiolaging.2015.09.012. Epub 2015 Sep 30.

PMID:
26601740
19.

No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy.

Seelen M, Visser AE, Overste DJ, Kim HJ, Palud A, Wong TH, van Swieten JC, Scheltens P, Voermans NC, Baas F, de Jong JM, van der Kooi AJ, de Visser M, Veldink JH, Taylor JP, Van Es MA, van den Berg LH.

Neurobiol Aging. 2014 Aug;35(8):1956.e9-1956.e11. doi: 10.1016/j.neurobiolaging.2014.01.152. Epub 2014 Feb 6.

PMID:
24612671
20.

The genetics of amyotrophic lateral sclerosis: current insights.

Alsultan AA, Waller R, Heath PR, Kirby J.

Degener Neurol Neuromuscul Dis. 2016 May 13;6:49-64. doi: 10.2147/DNND.S84956. eCollection 2016. Review.

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