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Items: 1 to 20 of 81

1.

Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.

Bucossi S, Mariani S, Ventriglia M, Polimanti R, Gennarelli M, Bonvicini C, Pasqualetti P, Scrascia F, Migliore S, Vernieri F, Rossini PM, Squitti R.

Int J Alzheimers Dis. 2011;2011:973692. doi: 10.4061/2011/973692. Epub 2011 Jun 15.

2.

Association of K832R and R952K SNPs of Wilson's disease gene with Alzheimer's disease.

Bucossi S, Polimanti R, Mariani S, Ventriglia M, Bonvicini C, Migliore S, Manfellotto D, Salustri C, Vernieri F, Rossini PM, Squitti R.

J Alzheimers Dis. 2012;29(4):913-9. doi: 10.3233/JAD-2012-111997.

PMID:
22356903
3.

[Genotype and phenotype correlation in Chinese patients with Wilson's Disease].

Liu XQ, Zhang YF, Liu TT, Gu XF, Hsiao KJ, Bao KR, Yu LH.

Zhonghua Er Ke Za Zhi. 2003 Jan;41(1):35-8. Chinese.

PMID:
14761325
4.

Copper dysfunction in Alzheimer's disease: from meta-analysis of biochemical studies to new insight into genetics.

Squitti R.

J Trace Elem Med Biol. 2012 Jun;26(2-3):93-6. doi: 10.1016/j.jtemb.2012.04.012. Epub 2012 May 5.

PMID:
22565015
5.

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

Okada T, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H.

Hum Mutat. 2000;15(5):454-62.

PMID:
10790207
6.

Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease.

Venturelli E, Galimberti D, Fenoglio C, Lovati C, Finazzi D, Guidi I, Corrà B, Scalabrini D, Clerici F, Mariani C, Forloni G, Bresolin N, Scarpini E.

Neurosci Lett. 2006 Aug 14;404(1-2):217-21. Epub 2006 Jun 19.

PMID:
16787707
7.

Interleukin 6-174 G/C promoter gene polymorphism and sporadic Alzheimer's disease: geographic allele and genotype variations in Europe.

Capurso C, Solfrizzi V, D'Introno A, Colacicco AM, Capurso SA, Capurso A, Panza F.

Exp Gerontol. 2004 Oct;39(10):1567-73. Review.

PMID:
15501028
8.

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH.

Hum Mutat. 2004 Apr;23(4):398.

PMID:
15024742
9.

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.

Am J Hum Genet. 1997 Aug;61(2):317-28.

10.

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.

Mov Disord. 2006 Feb;21(2):245-8.

PMID:
16211609
11.
12.

Genetic variability in copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with Alzheimer's disease in a Chinese population.

Liu HP, Lin WY, Wang WF, Tsai CH, Wu WC, Chiou MT, Shen CP, Wu BT, Tsai FJ.

J Biol Regul Homeost Agents. 2013 Apr-Jun;27(2):319-27.

PMID:
23830383
13.

ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.

Santhosh S, Shaji RV, Eapen CE, Jayanthi V, Malathi S, Chandy M, Stanley M, Selvi S, Kurian G, Chandy GM.

Indian J Gastroenterol. 2006 Nov-Dec;25(6):277-82.

PMID:
17264425
14.

Association between interleukin-6 gene promoter -572C/G polymorphism and the risk of sporadic Alzheimer's disease.

He MX, Yang WL, Zhang MM, Lian YJ, Hua HY, Zeng JS, Zhang LR.

Neurol Sci. 2010 Apr;31(2):165-8. doi: 10.1007/s10072-009-0199-3. Epub 2009 Dec 3.

PMID:
19957198
15.

Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.

Gupta A, Maulik M, Nasipuri P, Chattopadhyay I, Das SK, Gangopadhyay PK; Indian Genome Variation Consortium, Ray K.

Clin Chem. 2007 Sep;53(9):1601-8. Epub 2007 Jul 18.

16.

PIN-1 promoter polymorphisms in mild cognitive impairment and susceptibility to Alzheimer's disease: a preliminary report.

Arosio B, Segat L, Milanese M, Galimberti L, Calabresi C, Zanetti M, Trabattoni D, Annoni G, Crovella S, Vergani C.

Aging Clin Exp Res. 2007 Oct;19(5):406-9.

PMID:
18007120
17.

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.

Clin Genet. 2005 Dec;68(6):524-32.

PMID:
16283883
18.

Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.

Sundaresan S, Eapen CE, Shaji RV, Chandy M, Kurian G, Chandy G.

Med Sci Monit. 2007 Mar;13(3):CS38-40.

PMID:
17325640
19.

The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans.

Shi J, Zhang S, Tang M, Liu X, Li T, Wang Y, Han H, Guo Y, Hao Y, Zheng K, Kong X, Su Z, Tong Y, Ma C.

Am J Med Genet B Neuropsychiatr Genet. 2004 Jan 1;124B(1):54-7.

PMID:
14681914
20.

[Variations within OLF1/EBF-associated zinc finger protein gene confer susceptibility to lupus nephritis in Chinese population].

Liang D, Huang XQ, Shen N, Mao HQ, Feng XB, Huang XF, Tang JP, Chen XX, Chen SL, Gu YY, Bao CD, Wang Y, Qian J.

Zhonghua Yi Xue Za Zhi. 2005 Apr 13;85(14):949-54. Chinese.

PMID:
16061000
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