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Results 1 - 9 of 9 for Pontocerebellar hypoplasia type 5
  1. ... TYPE 1A; PCH1A PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3 PONTOCEREBELLAR HYPOPLASIA, TYPE 5; PCH5 PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6 PONTOCEREBELLAR HYPOPLASIA, ...
  2. ... Santorelli FM. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Acta Neuropathol. 2011 May;121(5):671-3. doi: 10.1007/s00401-011-0823- ...
  3. ... Yourshaw M, Nelson SF, Eggermann T, Zerres K. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 2013 Jan 29;80(5):438-46. doi: 10.1212/WNL.0b013e31827f0f66. Epub ...
  4. ... Carrozzo R, Salviati L, Santorelli FM, Bertini E. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis. 2013 Jan;36( ...
  5. ... cause pontocerebellar hypoplasia. Clin Genet. 2009 May;75(5):427-8. doi: 10.1111/j.1399-0004.2009.01186_3.x. No abstract available. Citation on PubMed Bierhals T, Korenke GC, Uyanik G, Kutsche K. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and ...
  6. ... cases of a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2). When PCH2 results from TSEN34 gene ... Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia. Clin Genet. 2009 May;75(5):427-8. doi: 10.1111/j.1399-0004. ...
  7. ... to cause a form of the disorder designated pontocerebellar hypoplasia type 2 (PCH2) in several families of Iraqi and Moroccan ancestry. When PCH2 results from mutations in the SEPSECS gene, it is ... Researchers also refer to PCH2D as progressive cerebellocerebral ...
  8. ... cases of a form of the disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 results from VRK1 gene ... the nucleus. Mol Biol Cell. 2006 May;17(5):2451-64. doi: 10.1091/mbc.e05-12-1179. ... atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 ...
  9. ... JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: ... In: Eur J Hum Genet. 2010 May;18(5):552. Citation on PubMed or Free article on ... pontine and cerebellar hypoplasia (MICPCH). Hum Genet. 2012 Jan;131(1):99- ...