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CYLD in health and disease.
Marín-Rubio JL, Raote I, Inns J, Dobson-Stone C, Rajan N. Marín-Rubio JL, et al. Among authors: dobson stone c. Dis Model Mech. 2023 Jun 1;16(6):dmm050093. doi: 10.1242/dmm.050093. Epub 2023 Jun 30. Dis Model Mech. 2023. PMID: 37387450 Free PMC article. Review.
McLeod neuroacanthocytosis: genotype and phenotype.
Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, Symmans WA, Oechsner M, Kalckreuth W, Watt JM, Corbett AJ, Hamdalla HH, Marshall AG, Sutton I, Dotti MT, Malandrini A, Walker RH, Daniels G, Monaco AP. Danek A, et al. Ann Neurol. 2001 Dec;50(6):755-64. doi: 10.1002/ana.10035. Ann Neurol. 2001. PMID: 11761473
Neurologic phenotypes associated with acanthocytosis.
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A. Walker RH, et al. Neurology. 2007 Jan 9;68(2):92-8. doi: 10.1212/01.wnl.0000250356.78092.cc. Neurology. 2007. PMID: 17210889 Review.
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump.
Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, Healy E, Dissanayake M, Larrègue M, Perrussel M, Lehrach H, Munro CS, Strachan T, Burge S, Hovnanian A, Monaco AP. Sudbrak R, et al. Hum Mol Genet. 2000 Apr 12;9(7):1131-40. doi: 10.1093/hmg/9.7.1131. Hum Mol Genet. 2000. PMID: 10767338
113 results