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Results: 1 to 20 of 92

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.

PMID:
21760992
[PubMed]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
5.

New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.

Lu CX, Qing Lin, Huang WQ, Tzeng CM.

Eur J Med Genet. 2014 May 28. pii: S1769-7212(14)00101-3. doi: 10.1016/j.ejmg.2014.04.016. [Epub ahead of print]

PMID:
24878384
[PubMed - as supplied by publisher]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
9311736
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

Association analysis of brain-derived neurotrophic factor (BDNF) gene 196 A/G polymorphism with Alzheimer's disease (AD) in mainland Chinese.

Bian JT, Zhang JW, Zhang ZX, Zhao HL.

Neurosci Lett. 2005 Oct 14;387(1):11-6.

PMID:
16054753
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
17634212
[PubMed - indexed for MEDLINE]
Free Article
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

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

World J Gastroenterol. 2004 Feb 15;10(4):590-3.

PMID:
14966923
[PubMed - indexed for MEDLINE]
Free Article
20.

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
[PubMed - indexed for MEDLINE]

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