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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 3 |
2015 | 1 |
2018 | 1 |
2020 | 1 |
2021 | 1 |
2022 | 1 |
2024 | 0 |
Search Results
7 results
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Page 1
Connecting copper and cancer: from transition metal signalling to metalloplasia.
Nat Rev Cancer. 2022 Feb;22(2):102-113. doi: 10.1038/s41568-021-00417-2. Epub 2021 Nov 11.
Nat Rev Cancer. 2022.
PMID: 34764459
Free PMC article.
Review.
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
Stevens KE, Price JE, Marko J, Kaler SG.
Stevens KE, et al.
Am J Med Genet A. 2020 Jun;182(6):1364-1377. doi: 10.1002/ajmg.a.61572. Epub 2020 Apr 15.
Am J Med Genet A. 2020.
PMID: 32293788
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Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.
Haddad MR, Choi EY, Zerfas PM, Yi L, Martinelli D, Sullivan P, Goldstein DS, Centeno JA, Brinster LR, Ralle M, Kaler SG.
Haddad MR, et al.
Mol Ther Methods Clin Dev. 2018 Jul 9;10:165-178. doi: 10.1016/j.omtm.2018.07.002. eCollection 2018 Sep 21.
Mol Ther Methods Clin Dev. 2018.
PMID: 30090842
Free PMC article.
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Wilson's disease and other neurological copper disorders.
Bandmann O, Weiss KH, Kaler SG.
Bandmann O, et al.
Lancet Neurol. 2015 Jan;14(1):103-13. doi: 10.1016/S1474-4422(14)70190-5.
Lancet Neurol. 2015.
PMID: 25496901
Free PMC article.
Review.
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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Huppke P, Brendel C, Korenke GC, Marquardt I, Donsante A, Yi L, Hicks JD, Steinbach PJ, Wilson C, Elpeleg O, Møller LB, Christodoulou J, Kaler SG, Gärtner J.
Huppke P, et al.
Hum Mutat. 2012 Aug;33(8):1207-15. doi: 10.1002/humu.22099. Epub 2012 May 16.
Hum Mutat. 2012.
PMID: 22508683
Free PMC article.
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Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.
Huppke P, et al.
Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030.
Am J Hum Genet. 2012.
PMID: 22243965
Free PMC article.
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Increased frequency of congenital heart defects in Menkes disease.
Hicks JD, Donsante A, Pierson TM, Gillespie MJ, Chou DE, Kaler SG.
Hicks JD, et al.
Clin Dysmorphol. 2012 Apr;21(2):59-63. doi: 10.1097/MCD.0b013e32834ea52b.
Clin Dysmorphol. 2012.
PMID: 22134099
Free PMC article.
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