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Items: 1 to 20 of 100

1.

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients.

Iacoangeli A, Al Khleifat A, Sproviero W, Shatunov A, Jones AR, Opie-Martin S, Naselli E, Topp SD, Fogh I, Hodges A, Dobson RJ, Newhouse SJ, Al-Chalabi A.

Amyotroph Lateral Scler Frontotemporal Degener. 2019 Mar 5:1-9. doi: 10.1080/21678421.2018.1562553. [Epub ahead of print]

PMID:
30835568
2.

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.

Al-Chalabi A, van den Berg LH, Veldink J.

Nat Rev Neurol. 2017 Feb;13(2):96-104. doi: 10.1038/nrneurol.2016.182. Epub 2016 Dec 16. Review.

PMID:
27982040
3.

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.

4.

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

Gratten J, Zhao Q, Benyamin B, Garton F, He J, Leo PJ, Mangelsdorf M, Anderson L, Zhang ZH, Chen L, Chen XD, Cremin K, Deng HW, Edson J, Han YY, Harris J, Henders AK, Jin ZB, Li Z, Lin Y, Liu X, Marshall M, Mowry BJ, Ran S, Reutens DC, Song S, Tan LJ, Tang L, Wallace RH, Wheeler L, Wu J, Yang J, Xu H, Visscher PM, Bartlett PF, Brown MA, Wray NR, Fan D.

Genome Med. 2017 Nov 17;9(1):97. doi: 10.1186/s13073-017-0487-0.

5.

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.

Garton FC, Benyamin B, Zhao Q, Liu Z, Gratten J, Henders AK, Zhang ZH, Edson J, Furlong S, Morgan S, Heggie S, Thorpe K, Pfluger C, Mather KA, Sachdev PS, McRae AF, Robinson MR, Shah S, Visscher PM, Mangelsdorf M, Henderson RD, Wray NR, McCombe PA.

Mol Genet Genomic Med. 2017 Jun 12;5(4):418-428. doi: 10.1002/mgg3.302. eCollection 2017 Jul.

6.

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.

Nakamura R, Sone J, Atsuta N, Tohnai G, Watanabe H, Yokoi D, Nakatochi M, Watanabe H, Ito M, Senda J, Katsuno M, Tanaka F, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Tsuji S, Nakashima K, Kaji R, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS).

Neurobiol Aging. 2016 Mar;39:219.e1-8. doi: 10.1016/j.neurobiolaging.2015.11.030. Epub 2015 Dec 7.

PMID:
26742954
7.

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Krüger S, Battke F, Sprecher A, Munz M, Synofzik M, Schöls L, Gasser T, Grehl T, Prudlo J, Biskup S.

Front Mol Neurosci. 2016 Oct 13;9:92. eCollection 2016.

8.

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

Chia R, Chiò A, Traynor BJ.

Lancet Neurol. 2018 Jan;17(1):94-102. doi: 10.1016/S1474-4422(17)30401-5. Epub 2017 Nov 16. Review.

9.

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.

Meltz Steinberg K, Nicholas TJ, Koboldt DC, Yu B, Mardis E, Pamphlett R.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):385-92. doi: 10.3109/21678421.2015.1040029. Epub 2015 May 11.

PMID:
25960086
10.

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Morgan S, Shoai M, Fratta P, Sidle K, Orrell R, Sweeney MG, Shatunov A, Sproviero W, Jones A, Al-Chalabi A, Malaspina A, Houlden H, Hardy J, Pittman A.

Neurobiol Aging. 2015 Mar;36(3):1600.e5-8. doi: 10.1016/j.neurobiolaging.2014.12.017. Epub 2014 Dec 20.

PMID:
25588603
11.

TDP-43 in differential diagnosis of motor neuron disorders.

Dickson DW, Josephs KA, Amador-Ortiz C.

Acta Neuropathol. 2007 Jul;114(1):71-9. Epub 2007 Jun 14.

PMID:
17569066
12.

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

Pang SY, Hsu JS, Teo KC, Li Y, Kung MHW, Cheah KSE, Chan D, Cheung KMC, Li M, Sham PC, Ho SL.

Neurobiol Aging. 2017 Oct;58:238.e9-238.e15. doi: 10.1016/j.neurobiolaging.2017.06.007. Epub 2017 Jun 20.

13.

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.

14.

Next Generation Sequencing and ALS: known genes, different phenotyphes.

Campopiano R, Ryskalin L, Giardina E, Zampatti S, Busceti CL, Biagioni F, Ferese R, Storto M, Gambardella S, Fornai F.

Arch Ital Biol. 2017 Dec 1;155(4):110-117. doi: 10.12871/00039829201742. Review.

PMID:
29405028
15.

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.

16.

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET.

J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12.

PMID:
29650794
17.

Treatment of fatigue in amyotrophic lateral sclerosis/motor neuron disease.

Gibbons C, Pagnini F, Friede T, Young CA.

Cochrane Database Syst Rev. 2018 Jan 2;1:CD011005. doi: 10.1002/14651858.CD011005.pub2. Review.

PMID:
29293261
18.

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis.

Narain P, Pandey A, Gupta S, Gomes J, Bhatia R, Vivekanandan P.

Neurobiol Aging. 2018 Nov;71:265.e9-265.e14. doi: 10.1016/j.neurobiolaging.2018.05.012. Epub 2018 May 17.

PMID:
29895397
19.

Epidemiology of amyotrophic lateral sclerosis.

Kurtzke JF.

Adv Neurol. 1982;36:281-302.

PMID:
6983824
20.

Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.

He J, Mangelsdorf M, Fan D, Bartlett P, Brown MA.

Neuroscientist. 2015 Dec;21(6):599-615. doi: 10.1177/1073858414555404. Epub 2014 Nov 5. Review.

PMID:
25378359

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