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Items: 1 to 20 of 65

1.

Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.

Uyan Ö, Ömür Ö, Ağım ZS, Özoğuz A, Li H, Parman Y, Deymeer F, Oflazer P, Koç F, Tan E, Özçelik H, Başak AN.

PLoS One. 2013 Aug 26;8(8):e72381. doi: 10.1371/journal.pone.0072381. eCollection 2013.

2.

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.

Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP, Wokke JH, Ophoff RA, van den Berg LH.

Lancet Neurol. 2008 Apr;7(4):319-26. doi: 10.1016/S1474-4422(08)70048-6. Epub 2008 Mar 3.

PMID:
18313986
3.

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations.

Cronin S, Blauw HM, Veldink JH, van Es MA, Ophoff RA, Bradley DG, van den Berg LH, Hardiman O.

Hum Mol Genet. 2008 Nov 1;17(21):3392-8. doi: 10.1093/hmg/ddn233. Epub 2008 Aug 7.

PMID:
18689356
4.

The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.

Wain LV, Pedroso I, Landers JE, Breen G, Shaw CE, Leigh PN, Brown RH, Tobin MD, Al-Chalabi A.

PLoS One. 2009 Dec 4;4(12):e8175. doi: 10.1371/journal.pone.0008175.

5.

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH.

Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4.

PMID:
20685689
6.

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population.

Corcia P, Ingre C, Blasco H, Press R, Praline J, Antar C, Veyrat-Durebex C, Guettard YO, Camu W, Andersen PM, Vourc'h P, Andres CR.

Eur J Hum Genet. 2012 May;20(5):588-91. doi: 10.1038/ejhg.2011.255. Epub 2012 Jan 25.

7.

Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.

Van Es MA, Van Vught PW, Veldink JH, Andersen PM, Birve A, Lemmens R, Cronin S, Van Der Kooi AJ, De Visser M, Schelhaas HJ, Hardiman O, Ragoussis I, Lambrechts D, Robberecht W, Wokke JH, Ophoff RA, Van Den Berg LH.

Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):441-7. doi: 10.3109/17482960802673042.

PMID:
19922138
8.

Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: homozygous NAIP deletion in a sporadic case.

Jackson M, Morrison KE, Al-Chalabi A, Bakker M, Leigh PN.

Ann Neurol. 1996 Jun;39(6):796-800.

PMID:
8651652
9.

ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population.

Lahut S, Ömür Ö, Uyan Ö, Ağım ZS, Özoğuz A, Parman Y, Deymeer F, Oflazer P, Koç F, Özçelik H, Auburger G, Başak AN.

PLoS One. 2012;7(8):e42956. doi: 10.1371/journal.pone.0042956. Epub 2012 Aug 20.

10.

Whole-genome analysis of sporadic amyotrophic lateral sclerosis.

Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D, Hesterlee SE, Pestronk A, Levine T, Bertorini T, Graves MC, Mozaffar T, Jackson CE, Bosch P, McVey A, Dick A, Barohn R, Lomen-Hoerth C, Rosenfeld J, O'connor DT, Zhang K, Crook R, Ryberg H, Hutton M, Katz J, Simpson EP, Mitsumoto H, Bowser R, Miller RG, Appel SH, Stephan DA.

N Engl J Med. 2007 Aug 23;357(8):775-88. Epub 2007 Aug 1.

11.

Second-generation Irish genome-wide association study for amyotrophic lateral sclerosis.

McLaughlin RL, Kenna KP, Vajda A, Bede P, Elamin M, Cronin S, Donaghy CG, Bradley DG, Hardiman O.

Neurobiol Aging. 2015 Feb;36(2):1221.e7-13. doi: 10.1016/j.neurobiolaging.2014.08.030. Epub 2014 Sep 6.

PMID:
25442119
12.

Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy.

Bae JS, Cheong HS, Chun JY, Park TJ, Kim JO, Kim EM, Park M, Kim DJ, Lee EJ, Kim EK, Lee JY, Shin HD.

Ophthalmology. 2010 Jul;117(7):1306-12.e4. doi: 10.1016/j.ophtha.2009.11.021. Epub 2010 Mar 3.

PMID:
20202685
13.

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
14.

[Personal genome analysis in amyotrophic lateral sclerosis].

Tanaka F, Sone J, Atsuta N, Nakamura R, Doi H, Koyano S, Sobue G.

Brain Nerve. 2013 Mar;65(3):257-65. Review. Japanese.

PMID:
23475517
15.

TP53 Arg72Pro polymorphism in Turkish patients with sporadic amyotrophic lateral sclerosis.

Ergul E, Ozel MD, Sazci A, Idrisoglu HA.

Neurobiol Aging. 2011 Nov;32(11):2107.e1-2. doi: 10.1016/j.neurobiolaging.2011.05.021. Epub 2011 Jul 7.

PMID:
21741128
16.

copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.

Kuusisto KM, Akinrinade O, Vihinen M, Kankuri-Tammilehto M, Laasanen SL, Schleutker J.

PLoS One. 2013 Aug 13;8(8):e71802. doi: 10.1371/journal.pone.0071802. eCollection 2013.

17.

The importance of the SMN genes in the genetics of sporadic ALS.

Corcia P, Camu W, Praline J, Gordon PH, Vourch P, Andres C.

Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):436-40. doi: 10.3109/17482960902759162.

PMID:
19922137
18.

Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach.

Morello G, Guarnaccia M, Spampinato AG, La Cognata V, D'Agata V, Cavallaro S.

Mol Neurobiol. 2017 Jan 24. doi: 10.1007/s12035-017-0393-x. [Epub ahead of print] Review.

PMID:
28120152
19.
20.

Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women.

Kim JH, Jung SH, Bae JS, Lee HS, Yim SH, Park SY, Bang SY, Hu HJ, Shin HD, Bae SC, Chung YJ.

Arthritis Rheum. 2013 Apr;65(4):1055-63. doi: 10.1002/art.37854.

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