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Volumn 105, Issue 23, 2008, Pages

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion

Author keywords

[No Author keywords available]

Indexed keywords

VERY LOW DENSITY LIPOPROTEIN RECEPTOR; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 45849123865     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0804078105     Document Type: Letter
Times cited : (6)

References (13)
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    • Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans
    • Ozcelik T, et al. (2008) Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci USA 105:4232-4236.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 4232-4236
    • Ozcelik, T.1
  • 2
    • 33746596433 scopus 로고    scopus 로고
    • A new theory on the evolution of human mind. Unertan syndrome: Quadrupedality, primitive language, and severe mental retardation
    • Tan U (2005) A new theory on the evolution of human mind. Unertan syndrome: Quadrupedality, primitive language, and severe mental retardation. NeuroQuantology 4:250-255.
    • (2005) NeuroQuantology , vol.4 , pp. 250-255
    • Tan, U.1
  • 4
    • 0015274220 scopus 로고
    • The dysequilibrium syndrome in cerebral palsy. Clinical aspects of treatment
    • Hagberg B, Scanner G, Steen M (1972) The dysequilibrium syndrome in cerebral palsy. Clinical aspects of treatment. Acta Paediatr Scand 61(Suppl 226):1-63.
    • (1972) Acta Paediatr Scand , vol.61 , Issue.SUPPL. 226 , pp. 1-63
    • Hagberg, B.1    Scanner, G.2    Steen, M.3
  • 5
    • 0019487358 scopus 로고
    • Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites
    • Schurig V, Van Orman A, Bowen P (1981) Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet 9:43-53.
    • (1981) Am J Med Genet , vol.9 , pp. 43-53
    • Schurig, V.1    Van Orman, A.2    Bowen, P.3
  • 6
    • 23944470349 scopus 로고    scopus 로고
    • Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    • Boycott KM, et al. (2005) Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 77:477-483.
    • (2005) Am J Hum Genet , vol.77 , pp. 477-483
    • Boycott, K.M.1
  • 7
    • 38349112372 scopus 로고    scopus 로고
    • Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome
    • Moheb LA, et al. (2008) Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet 16:270-273.
    • (2008) Eur J Hum Genet , vol.16 , pp. 270-273
    • Moheb, L.A.1
  • 8
    • 45149086849 scopus 로고    scopus 로고
    • Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene
    • March 26, 10.1038/ejhg.2008.73
    • Turkmen S, et al. (March 26, 2008) Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. Eur J Hum Genet, 10.1038/ejhg.2008.73.
    • (2008) Eur J Hum Genet
    • Turkmen, S.1
  • 9
    • 34347403427 scopus 로고    scopus 로고
    • A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism
    • Garcias GL, Roth MG (2007) A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism. Int J Neurosci 117:927-933.
    • (2007) Int J Neurosci , vol.117 , pp. 927-933
    • Garcias, G.L.1    Roth, M.G.2
  • 10
    • 46149114464 scopus 로고    scopus 로고
    • Fletcher M (October 17, 2007) Life on all fours. Times Online. Available at www.timesonline.co.uk/tol/life_and_style/health/article2671426.ece.
    • Fletcher M (October 17, 2007) Life on all fours. Times Online. Available at www.timesonline.co.uk/tol/life_and_style/health/article2671426.ece.
  • 13
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    • Ahuja A (2007) We're all made with quadrupedal walking ability. Times Online. Available at http://women.timesonline.co.uk/tol/life_and_style/ women/the_way_we_live/article2671044.ece.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.