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CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA. Mochida GH, et al. Among authors: hill rs, hill ad. Nat Genet. 2012 Nov;44(11):1260-4. doi: 10.1038/ng.2425. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023333 Free PMC article.
Autosomal recessive form of periventricular heterotopia.
Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA. Sheen VL, et al. Among authors: hill rs. Neurology. 2003 Apr 8;60(7):1108-12. doi: 10.1212/01.wnl.0000055898.00349.02. Neurology. 2003. PMID: 12682315
G protein-coupled receptor-dependent development of human frontal cortex.
Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA. Piao X, et al. Among authors: hill rs. Science. 2004 Mar 26;303(5666):2033-6. doi: 10.1126/science.1092780. Science. 2004. PMID: 15044805
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA. Sheen VL, et al. Among authors: hill rs. Brain Dev. 2004 Aug;26(5):326-34. doi: 10.1016/j.braindev.2003.09.004. Brain Dev. 2004. PMID: 15165674
Cerebellar ataxia with progressive improvement.
Tsao JW, Neal J, Apse K, Stephan MJ, Dobyns WB, Hill RS, Walsh CA, Sheen VL. Tsao JW, et al. Among authors: hill rs. Arch Neurol. 2006 Apr;63(4):594-7. doi: 10.1001/archneur.63.4.594. Arch Neurol. 2006. PMID: 16606775
164 results