메뉴 건너뛰기




Volumn 13, Issue 6, 2010, Pages 492-496

Fetal akinesia deformation sequence and neuroaxonal dystrophy without PLA2G6 mutation

Author keywords

Alpha fetoprotein; Fetal akinesia deformation sequence; Fetal neuroaxonal dystrophy; PLA2G6

Indexed keywords

ALPHA FETOPROTEIN; ALPHA SYNUCLEIN; AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; PHOSPHOLIPASE A2 GROUP VI; PROTEIN; SMI 31 PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG;

EID: 79952322582     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/10-01-0782-CR.1     Document Type: Article
Times cited : (4)

References (28)
  • 1
    • 0013932087 scopus 로고
    • Neuroaxonal dystrophy in congenital biliary atresia
    • Sung JH, Stadlan EM. Neuroaxonal dystrophy in congenital biliary atresia. J Neuropathol Exp Neurol 1966;25:341-361.
    • (1966) J Neuropathol Exp Neurol , vol.25 , pp. 341-361
    • Sung, J.H.1    Stadlan, E.M.2
  • 2
    • 0000782291 scopus 로고
    • Neuroaxonal dystrophy in mucoviscidosis
    • Sung JH. Neuroaxonal dystrophy in mucoviscidosis. J Neuropathol Exp Neurol 1964;23:567-583.
    • (1964) J Neuropathol Exp Neurol , vol.23 , pp. 567-583
    • Sung, J.H.1
  • 3
    • 0019471311 scopus 로고
    • Axonal dystrophy in the gracile nucleus in children and young adults. Reappraisal of the incidence and associated diseases
    • Sung JH, Mastri AR, Park SH. Axonal dystrophy in the gracile nucleus in children and young adults: reappraisal of the incidence and associated diseases. J Neuropathol Exp Neurol 1981;40:37-45. (Pubitemid 11138525)
    • (1981) Journal of Neuropathology and Experimental Neurology , vol.40 , Issue.1 , pp. 37-45
    • Sung, J.H.1    Mastri, A.R.2    Park, S.H.3
  • 4
    • 0019977738 scopus 로고
    • Pathology of chronic vitamin e deficiency in fatal familial intrahepatic cholestasis (Byler disease)
    • Saito K, Matsumoto S, Yokoyama T, Okaniwa M, Kamoshita S. Pathology of chronic vitamin E deficiency in fatal familial intrahepatic cholestasis (Byler disease). Virchows Arch A Pathol Anat Histol 1982;396:319-330. (Pubitemid 12061820)
    • (1982) Virchows Archiv A Pathological Anatomy and Histology , vol.396 , Issue.3 , pp. 319-330
    • Saito, K.1    Matsumoto, S.2    Yokoyama, T.3
  • 5
    • 0019478846 scopus 로고
    • Dystrophic axons and spinal cord demyelination in cystic fibrosis
    • Cavalier SJ, Gambetti P. Dystrophic axons and spinal cord demyelination in cystic fibrosis. Neurology 1981;31:714-718. (Pubitemid 11070456)
    • (1981) Neurology , vol.31 , Issue.6 , pp. 714-718
    • Cavalier, S.J.1    Gambetti, P.2
  • 8
    • 0022981784 scopus 로고
    • Fatal infantile form of muscle phosphofructokinase deficiency
    • Servidei S, Bonilla E, Diedrich RG, et al. Fatal infantile form of muscle phosphofructokinase deficiency. Neurology 1986;36:1465-1470. (Pubitemid 17175769)
    • (1986) Neurology , vol.36 , Issue.11 , pp. 1465-1470
    • Servidei, S.1    Bonilla, E.2    Diedrich, R.G.3
  • 9
    • 0023258629 scopus 로고
    • Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome
    • Powers JM, Tummons RC, Moser AB, Moser HW, Huff DS, Kelley RI. Neuronal lipidosis and neuroaxonal dystrophy in cerebrohepato- renal (Zellweger) syndrome. Acta Neuropathol 1987;73: 333-343. (Pubitemid 17113534)
    • (1987) Acta Neuropathologica , vol.73 , Issue.4 , pp. 333-343
    • Powers, J.M.1    Tummons, R.C.2    Moser, A.B.3
  • 13
    • 58349116105 scopus 로고    scopus 로고
    • Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy
    • Wu Y, Jiang Y, Gao Z, et al. Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy. Eur J Neurol 2009;16:240-245.
    • (2009) Eur J Neurol , vol.16 , pp. 240-245
    • Wu, Y.1    Jiang, Y.2    Gao, Z.3
  • 14
    • 27544483986 scopus 로고    scopus 로고
    • Postmortem lung weight/body weight standards for term and preterm infants
    • DOI 10.1002/ppul.20218
    • De Paepe ME, Friedman RM, Gundogan F, Pinar H. Postmortem lung weight/body weight standards for term and preterm infants. Pediatr Pulmonol 2005;40:445-448. (Pubitemid 41546909)
    • (2005) Pediatric Pulmonology , vol.40 , Issue.5 , pp. 445-448
    • De, P.M.E.1    Friedman, R.M.2    Gundogan, F.3    Pinar, H.4
  • 15
    • 33645766057 scopus 로고    scopus 로고
    • Hereditary diffuse leukoencephalopathy with spheroids: Clinical, pathologic and genetic studies of a new kindred
    • Baba Y, Ghetti B, Baker MC, et al. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol 2006;111:300-311.
    • (2006) Acta Neuropathol , vol.111 , pp. 300-311
    • Baba, Y.1    Ghetti, B.2    Baker, M.C.3
  • 16
    • 59649129606 scopus 로고    scopus 로고
    • Autosomal dominant subcortical gliosis presenting as frontotemporal dementia
    • Swerdlow RH, Miller BB, Lopes MB, et al. Autosomal dominant subcortical gliosis presenting as frontotemporal dementia. Neurology 2009;72:260-267.
    • (2009) Neurology , vol.72 , pp. 260-267
    • Swerdlow, R.H.1    Miller, B.B.2    Lopes, M.B.3
  • 18
    • 62149099955 scopus 로고    scopus 로고
    • Clinical and genetic delineation of neurodegeneration with brain iron accumulation
    • Gregory A, Polster BJ, Hayflick SJ. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J Med Genet 2009;46:73-80.
    • (2009) J Med Genet , vol.46 , pp. 73-80
    • Gregory, A.1    Polster, B.J.2    Hayflick, S.J.3
  • 20
    • 0021846130 scopus 로고
    • Infantile neuroaxonal dystrophy: Perinatal onset with symptoms of diencephalic syndrome
    • Nagashima K, Suzuki S, Ichikawa E, et al. Infantile neuroaxonal dystrophy: perinatal onset with symptoms of diencephalic syndrome. Neurology 1985;35:735-738. (Pubitemid 15067033)
    • (1985) Neurology , vol.35 , Issue.5 , pp. 735-738
    • Nagashima, K.1    Suzuki, S.2    Ichikawa, E.3
  • 21
    • 0023641039 scopus 로고
    • Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course
    • DOI 10.1002/ajmg.1320280124
    • Hunter AG, Jimenez CL, Carpenter BF, MacDonald I. Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course. Am J Med Genet 1987;28:171-180. (Pubitemid 17153149)
    • (1987) American Journal of Medical Genetics , vol.28 , Issue.1 , pp. 171-180
    • Hunter, A.G.W.1    Jimenez, C.L.2    Carpenter, B.F.3    MacDonald, I.4
  • 22
    • 0014271312 scopus 로고
    • Infantile neuroaxonal dystrophy with neonatal onset. Neuropathologic and electron microscopic observations
    • Kamoshita S, Neustein HB, Landing BH. Infantile neuroaxonal dystrophy with neonatal onset. Neuropathologic and electron microscopic observations. J Neuropathol Exp Neurol 1968;27: 300-323.
    • (1968) J Neuropathol Exp Neurol , vol.27 , pp. 300-323
    • Kamoshita, S.1    Neustein, H.B.2    Landing, B.H.3
  • 23
    • 0015859336 scopus 로고
    • Prenatal axonal dystrophy and osteopetrosis
    • Fitch N, Carpenter S, Lachance RC. Prenatal axonal dystrophy and osteopetrosis. Arch Pathol 1973;95:298-301.
    • (1973) Arch Pathol , vol.95 , pp. 298-301
    • Fitch, N.1    Carpenter, S.2    Lachance, R.C.3
  • 24
    • 0018649021 scopus 로고
    • Neuroaxonal dystrophy in the neonate: A case report
    • DOI 10.1007/BF00684817
    • Janota I. Neuroaxonal dystrophy in the neonate: a case report. Acta Neuropathol 1979;46:151-154. (Pubitemid 9246614)
    • (1979) Acta Neuropathologica , vol.46 , Issue.1-2 , pp. 151-154
    • Janota, I.1
  • 26
    • 41549127577 scopus 로고    scopus 로고
    • A case of infantile neuroaxonal dystrophy-connatal Seitelberger disease
    • DOI 10.1177/0883073807308710
    • Chow G, Padfield CJ. A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease. J Child Neurol 2008;23:418-420. (Pubitemid 351460705)
    • (2008) Journal of Child Neurology , vol.23 , Issue.4 , pp. 418-420
    • Chow, G.1    Padfield, C.J.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.