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Items: 1 to 20 of 102

1.

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis.

van Rheenen W, Diekstra FP, van Doormaal PT, Seelen M, Kenna K, McLaughlin R, Shatunov A, Czell D, van Es MA, van Vught PW, van Damme P, Smith BN, Waibel S, Schelhaas HJ, van der Kooi AJ, de Visser M, Weber M, Robberecht W, Hardiman O, Shaw PJ, Shaw CE, Morrison KE, Al-Chalabi A, Andersen PM, Ludolph AC, Veldink JH, van den Berg LH.

Neurobiol Aging. 2013 May;34(5):1517.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.020. Epub 2012 Oct 11.

PMID:
23063643
2.

H63D HFE polymorphisms are associated with increased disease duration and decreased muscle superoxide dismutase-1 expression in amyotrophic lateral sclerosis patients.

Su XW, Lee SY, Mitchell RM, Stephens HE, Simmons Z, Connor JR.

Muscle Nerve. 2013 Aug;48(2):242-6. doi: 10.1002/mus.23740. Epub 2013 Jun 29.

PMID:
23813494
3.

H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in China.

He X, Lu X, Hu J, Xi J, Zhou D, Shang H, Liu L, Zhou H, Yan B, Yu L, Hu F, Liu Z, He L, Yao X, Xu Y.

Eur J Neurol. 2011 Feb;18(2):359-61. doi: 10.1111/j.1468-1331.2010.03158.x.

PMID:
20642794
4.

The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population.

Sutedja NA, Sinke RJ, Van Vught PW, Van der Linden MW, Wokke JH, Van Duijn CM, Njajou OT, Van der Schouw YT, Veldink JH, Van den Berg LH.

Arch Neurol. 2007 Jan;64(1):63-7.

PMID:
17210810
5.

HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin.

Restagno G, Lombardo F, Ghiglione P, Calvo A, Cocco E, Sbaiz L, Mutani R, Chiò A.

J Neurol Neurosurg Psychiatry. 2007 Mar;78(3):327. No abstract available.

6.

Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies.

Li M, Wang L, Wang W, Qi XL, Tang ZY.

Braz J Med Biol Res. 2014 Feb;47(3):215-22. doi: 10.1590/1414-431X20133296. Epub 2014 Feb 18. Review.

7.

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis.

Praline J, Blasco H, Vourc'h P, Rat V, Gendrot C, Camu W, Andres CR; French ALS Study Group.

J Neurol Sci. 2012 Jun 15;317(1-2):58-61. doi: 10.1016/j.jns.2012.02.029. Epub 2012 Mar 14.

PMID:
22425014
8.

H63D HFE genotype accelerates disease progression in animal models of amyotrophic lateral sclerosis.

Nandar W, Neely EB, Simmons Z, Connor JR.

Biochim Biophys Acta. 2014 Dec;1842(12 Pt A):2413-26. doi: 10.1016/j.bbadis.2014.09.016. Epub 2014 Oct 5.

9.

Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS.

Goodall EF, Greenway MJ, van Marion I, Carroll CB, Hardiman O, Morrison KE.

Neurology. 2005 Sep 27;65(6):934-7.

PMID:
16186539
10.

HFE p.H63D polymorphism does not influence ALS phenotype and survival.

Chiò A, Mora G, Sabatelli M, Caponnetto C, Lunetta C, Traynor BJ, Johnson JO, Nalls MA, Calvo A, Moglia C, Borghero G, Monsurrò MR, La Bella V, Volanti P, Simone I, Salvi F, Logullo FO, Nilo R, Giannini F, Mandrioli J, Tanel R, Murru MR, Mandich P, Zollino M, Conforti FL, Penco S; ITALSGEN consortium; SARDINIALS consortium, Brunetti M, Barberis M, Restagno G.

Neurobiol Aging. 2015 Oct;36(10):2906.e7-11. doi: 10.1016/j.neurobiolaging.2015.06.016. Epub 2015 Jun 18.

11.

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients.

van Blitterswijk M, Blokhuis A, van Es MA, van Vught PW, Rowicka PA, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.

Neurobiol Aging. 2012 Aug;33(8):1845.e1-3. doi: 10.1016/j.neurobiolaging.2012.01.007. Epub 2012 Feb 11.

PMID:
22330174
12.

Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences.

Wang XS, Lee S, Simmons Z, Boyer P, Scott K, Liu W, Connor J.

J Neurol Sci. 2004 Dec 15;227(1):27-33.

PMID:
15546588
13.

Screening of VCP mutations in Chinese amyotrophic lateral sclerosis patients.

Zou ZY, Liu MS, Li XG, Cui LY.

Neurobiol Aging. 2013 May;34(5):1519.e3-4. doi: 10.1016/j.neurobiolaging.2012.10.002. Epub 2012 Oct 24.

PMID:
23102936
14.

A CSF biomarker panel for identification of patients with amyotrophic lateral sclerosis.

Mitchell RM, Freeman WM, Randazzo WT, Stephens HE, Beard JL, Simmons Z, Connor JR.

Neurology. 2009 Jan 6;72(1):14-9. doi: 10.1212/01.wnl.0000333251.36681.a5. Epub 2008 Nov 5.

PMID:
18987350
15.

HFE gene variants affect iron in the brain.

Nandar W, Connor JR.

J Nutr. 2011 Apr 1;141(4):729S-739S. doi: 10.3945/jn.110.130351. Epub 2011 Feb 23. Review.

PMID:
21346098
16.

Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability.

Liu Y, Lee SY, Neely E, Nandar W, Moyo M, Simmons Z, Connor JR.

J Biol Chem. 2011 Apr 15;286(15):13161-70. doi: 10.1074/jbc.M110.170944. Epub 2011 Feb 24.

17.

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

Daoud H, Dobrzeniecka S, Camu W, Meininger V, Dupré N, Dion PA, Rouleau GA.

Neurobiol Aging. 2013 Apr;34(4):1311.e1-2. doi: 10.1016/j.neurobiolaging.2012.09.001. Epub 2012 Oct 10.

PMID:
23062600
18.

Haemochromatosis gene (HFE) polymorphisms and migraine: an association study.

Rainero I, Rubino E, Rivoiro C, Valfrè W, Binello E, Zampella E, De Martino P, Gentile S, Fenoglio P, Savi L, Gallone S, Pinessi L.

Cephalalgia. 2007 Jan;27(1):9-13.

PMID:
17212677
19.

TUBA4A may not be a significant genetic factor in Chinese ALS patients.

Li J, He J, Tang L, Chen L, Xu L, Ma Y, Zhang N, Fan D.

Amyotroph Lateral Scler Frontotemporal Degener. 2015;17(1-2):148-50. doi: 10.3109/21678421.2015.1074705. Epub 2015 Oct 14.

PMID:
26465396
20.

C282Y polymorphism in the HFE gene is associated with risk of breast cancer.

Liu X, Lv C, Luan X, Lv M.

Tumour Biol. 2013 Oct;34(5):2759-64. doi: 10.1007/s13277-013-0833-9. Epub 2013 May 17.

PMID:
23681799

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