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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S. Velinov M, et al. Among authors: barone r. PLoS One. 2012;7(1):e29729. doi: 10.1371/journal.pone.0029729. Epub 2012 Jan 3. PLoS One. 2012. PMID: 22235333 Free PMC article.
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. Staropoli JF, et al. Among authors: barone r. Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748208 Free PMC article.
Frequency and distribution of NF2 mutations in schwannomas.
Jacoby LB, MacCollin M, Barone R, Ramesh V, Gusella JF. Jacoby LB, et al. Among authors: barone r. Genes Chromosomes Cancer. 1996 Sep;17(1):45-55. doi: 10.1002/(SICI)1098-2264(199609)17:1<45::AID-GCC7>3.0.CO;2-2. Genes Chromosomes Cancer. 1996. PMID: 8889506
NF2 gene analysis distinguishes hemangiopericytoma from meningioma.
Joseph JT, Lisle DK, Jacoby LB, Paulus W, Barone R, Cohen ML, Roggendorf WH, Bruner JM, Gusella JF, Louis DN. Joseph JT, et al. Among authors: barone r. Am J Pathol. 1995 Nov;147(5):1450-5. Am J Pathol. 1995. PMID: 7485407 Free PMC article.
508 results