메뉴 건너뛰기




Volumn 45, Issue 3, 2011, Pages 185-188

Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; ECHOGRAPHY; FEMALE; GENE; GENE MUTATION; GESTATIONAL AGE; HUMAN; HYDRAMNIOS; MICROCEPHALY; MOLECULAR DIAGNOSIS; MUSCLE HYPERTONIA; NEUROLOGIC EXAMINATION; NEWBORN; NEWBORN DEATH; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PONTOCEREBELLAR HYPOPLASIA TYPE 4; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TSEN54 GENE;

EID: 80051536299     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.05.009     Document Type: Article
Times cited : (8)

References (8)
  • 1
    • 33644861122 scopus 로고    scopus 로고
    • Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?
    • DOI 10.1002/ajmg.a.31095
    • M.S. Patel, L.E. Becker, A. Toi, D.L. Armstrong, and D. Chitayat Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? Am J Med Genet [A] 140A 2006 594 603 (Pubitemid 43376296)
    • (2006) American Journal of Medical Genetics , vol.140 A , Issue.6 , pp. 594-603
    • Patel, M.S.1    Becker, L.E.2    Toi, A.3    Armstrong, D.L.4    Chitayat, D.5
  • 2
    • 50449096432 scopus 로고    scopus 로고
    • TRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
    • B.S. Budde, Y. Namavar, and P.G. Barth tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia Nat Genet 40 2008 1113 1118
    • (2008) Nat Genet , vol.40 , pp. 1113-1118
    • Budde, B.S.1    Namavar, Y.2    Barth, P.G.3
  • 3
    • 77956123967 scopus 로고    scopus 로고
    • Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?
    • J.M. Graham Jr., A.H. Spencer, and I. Grinberg Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible? Am J Med Genet [A] 152A 2010 2268 2276
    • (2010) Am J Med Genet [A] , vol.152 A , pp. 2268-2276
    • Graham, Jr.J.M.1    Spencer, A.H.2    Grinberg, I.3
  • 5
    • 78049510720 scopus 로고    scopus 로고
    • Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies
    • D. Cassandrini, R. Biancheri, and A. Tessa Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies Neurology 75 2010 1459 1464
    • (2010) Neurology , vol.75 , pp. 1459-1464
    • Cassandrini, D.1    Biancheri, R.2    Tessa, A.3
  • 6
    • 78650693958 scopus 로고    scopus 로고
    • Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
    • Y. Namavar, P.G. Barth, and P.R. Kasher Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia Brain 134 2011 143 156
    • (2011) Brain , vol.134 , pp. 143-156
    • Namavar, Y.1    Barth, P.G.2    Kasher, P.R.3
  • 7
    • 0020607601 scopus 로고
    • Intrauterine multisystem atrophy in siblings: A new genetic syndrome?
    • M.K. Herrick, A.M. Strefling, and H. Urich Intrauterine multisystem atrophy in siblings: A new genetic syndrome? Acta Neuropathol (Berl) 61 1983 65 70 (Pubitemid 13036835)
    • (1983) Acta Neuropathologica , vol.61 , Issue.1 , pp. 65-70
    • Herrick, M.K.1    Strefling, A.M.2    Urich, H.3
  • 8
    • 0027771377 scopus 로고
    • Pontocerebellar hypoplasias: An overview of a group of inherited neurodegenerative disorders with fetal onset
    • P.G. Barth Pontocerebellar hypoplasias: An overview of a group of inherited neurodegenerative disorders with fetal onset Brain Dev 15 1993 411 422
    • (1993) Brain Dev , vol.15 , pp. 411-422
    • Barth, P.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.