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Volumn 7, Issue 3, 2003, Pages 178-184

Ocular findings in lissencephaly

Author keywords

[No Author keywords available]

Indexed keywords

AGYRIA; ANTERIOR EYE SEGMENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL STRABISMUS; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; HUMAN; MALE; MEDICAL EXAMINATION; MEDICAL RECORD; MILLER DIEKER SYNDROME; NEWBORN; OPTIC NERVE ATROPHY; OPTIC NERVE HYPOPLASIA; PATIENT CODING; PRIORITY JOURNAL; RETINA DETACHMENT; RETINA MALFORMATION; RETROSPECTIVE STUDY; WALKER WARBURG SYNDROME;

EID: 0042527368     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1091-8531(02)42005-8     Document Type: Article
Times cited : (19)

References (64)
  • 2
    • 0029000061 scopus 로고
    • Lissencephaly and other malformations of cortical development: 1995 update
    • Dobyns W.B., Truwit C.L. Lissencephaly and other malformations of cortical development 1995 update . Neuropediatrics. 26:1995;132-147.
    • (1995) Neuropediatrics , vol.26 , pp. 132-147
    • Dobyns, W.B.1    Truwit, C.L.2
  • 5
    • 0034168369 scopus 로고    scopus 로고
    • Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin
    • Gleeson J.G. Classical lissencephaly and double cortex (subcortical band heterotopia) LIS1 and doublecortin . Curr Opin Neurol. 13:2000;121-125.
    • (2000) Curr Opin Neurol , vol.13 , pp. 121-125
    • Gleeson, J.G.1
  • 6
    • 0029964539 scopus 로고    scopus 로고
    • Syndromes with lissencephaly
    • Pilz D.T., Quarrell O.W. Syndromes with lissencephaly. J Med Genet. 33:1996;319-323.
    • (1996) J Med Genet , vol.33 , pp. 319-323
    • Pilz, D.T.1    Quarrell, O.W.2
  • 7
    • 0000405984 scopus 로고
    • Lissencephaly in 2 siblings
    • Miller J.Q. Lissencephaly in 2 siblings. Neurology. 13:1963;841-850.
    • (1963) Neurology , vol.13 , pp. 841-850
    • Miller, J.Q.1
  • 8
    • 0021673605 scopus 로고
    • Cerebro-ocular dysgenesis (Walker-Warburg syndrome): Neuropathologic and etiologic analysis
    • Williams R.S., Swisher C.N., Jennings M., Ambler M., Caviness V.S. Jr. Cerebro-ocular dysgenesis (Walker-Warburg syndrome) neuropathologic and etiologic analysis . Neurology. 34:1984;1531-1541.
    • (1984) Neurology , vol.34 , pp. 1531-1541
    • Williams, R.S.1    Swisher, C.N.2    Jennings, M.3    Ambler, M.4    Caviness V.S., Jr.5
  • 9
    • 0026518338 scopus 로고
    • Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
    • Ledbetter S.A., Kuwano A., Dobyns W.B., Ledbetter D.H. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet. 50:1992;182-189.
    • (1992) Am J Hum Genet , vol.50 , pp. 182-189
    • Ledbetter, S.A.1    Kuwano, A.2    Dobyns, W.B.3    Ledbetter, D.H.4
  • 10
    • 0021174658 scopus 로고
    • Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly
    • Dobyns W.B., Stratton R.F., Greenberg F. Syndromes with lissencephaly. I Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly . Am J Med Genet. 18:1984;509-526.
    • (1984) Am J Med Genet , vol.18 , pp. 509-526
    • Dobyns, W.B.1    Stratton, R.F.2    Greenberg, F.3
  • 11
    • 0025734430 scopus 로고
    • The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging
    • Barkovich A.J., Koch T.K., Carrol C.L. The spectrum of lissencephaly report of ten patients analyzed by magnetic resonance imaging . Ann Neurol. 30:1991;139-146.
    • (1991) Ann Neurol , vol.30 , pp. 139-146
    • Barkovich, A.J.1    Koch, T.K.2    Carrol, C.L.3
  • 12
    • 0031596666 scopus 로고    scopus 로고
    • MRI-neuropathological correlations in type 1 lissencephaly
    • Landrieu P., Husson B., Pariente D., Lacroix C. MRI-neuropathological correlations in type 1 lissencephaly. Neuroradiology. 40:1998;173-176.
    • (1998) Neuroradiology , vol.40 , pp. 173-176
    • Landrieu, P.1    Husson, B.2    Pariente, D.3    Lacroix, C.4
  • 13
  • 17
    • 0022261205 scopus 로고
    • Computed tomographic appearance of lissencephaly syndromes
    • Dobyns W.B., McCluggage C.W. Computed tomographic appearance of lissencephaly syndromes. Am J Neuroradiol. 6:1985;545-550.
    • (1985) Am J Neuroradiol , vol.6 , pp. 545-550
    • Dobyns, W.B.1    McCluggage, C.W.2
  • 18
    • 0023079706 scopus 로고
    • Developmental aspects of lissencephaly and the lissencephaly syndromes
    • E.F. Gilbert, & J.M. Opitz. New York: Liss. Vol 23.
    • Dobyns W.B. Developmental aspects of lissencephaly and the lissencephaly syndromes. Gilbert E.F., Opitz J.M. Genetic aspects of developmental pathology. 1987;225 Liss, New York. Vol 23.
    • (1987) Genetic aspects of developmental pathology , pp. 225
    • Dobyns, W.B.1
  • 19
    • 0024513082 scopus 로고
    • The neurogenetics of lissencephaly
    • Dobyns W.B. The neurogenetics of lissencephaly. Neurol Clin. 7:1989;89-105.
    • (1989) Neurol Clin , vol.7 , pp. 89-105
    • Dobyns, W.B.1
  • 20
    • 0033595252 scopus 로고    scopus 로고
    • Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
    • Dobyns W.B., Truwit C.L., Ross M.E., Matsumoto N., Pliz D.T., Ledbetter D.H., et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 53:1999;270-277.
    • (1999) Neurology , vol.53 , pp. 270-277
    • Dobyns, W.B.1    Truwit, C.L.2    Ross, M.E.3    Matsumoto, N.4    Pliz, D.T.5    Ledbetter, D.H.6
  • 21
    • 0024565095 scopus 로고
    • The CT and MR evaluation of migrational disorders of the brain. Part I. Lissencephaly and pachygyria
    • Byrd S.E., Osborn R.E., Bohan T.P., Naidich T.P. The CT and MR evaluation of migrational disorders of the brain. Part I. Lissencephaly and pachygyria. Pediatr Radiol. 19:1989;151-156.
    • (1989) Pediatr Radiol , vol.19 , pp. 151-156
    • Byrd, S.E.1    Osborn, R.E.2    Bohan, T.P.3    Naidich, T.P.4
  • 26
    • 0023727166 scopus 로고
    • Miller-Dieker syndrome and monosomy 17p13: A new case
    • Selypes A., Laszlo A. Miller-Dieker syndrome and monosomy 17p13 a new case . Hum Genet. 80:1988;103-104.
    • (1988) Hum Genet , vol.80 , pp. 103-104
    • Selypes, A.1    Laszlo, A.2
  • 27
    • 0020539601 scopus 로고
    • A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome
    • Van Allen M., Clarren S.K. A spectrum of gyral anomalies in Miller-Dieker (lissencephaly) syndrome. J Pediatr. 102:1983;559-564.
    • (1983) J Pediatr , vol.102 , pp. 559-564
    • Van Allen, M.1    Clarren, S.K.2
  • 28
    • 0031040866 scopus 로고    scopus 로고
    • Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
    • Lo Nigro C., Chong C.S., Smith A.C., Dobyns W.B., Carrozzo R., Ledbetter D.H. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 6:1997;157-164.
    • (1997) Hum Mol Genet , vol.6 , pp. 157-164
    • Lo Nigro, C.1    Chong, C.S.2    Smith, A.C.3    Dobyns, W.B.4    Carrozzo, R.5    Ledbetter, D.H.6
  • 29
    • 0027486966 scopus 로고
    • Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
    • Dobyns W.B., Reiner O., Carrozzo R., Ledbetter D.H. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA. 270:1993;2838-2842.
    • (1993) JAMA , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3    Ledbetter, D.H.4
  • 30
    • 0031046839 scopus 로고    scopus 로고
    • A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
    • Chong S.S., Pack S.D., Roschke A.V., Tanigami A., Carrozzo R., Smith A.C., et al. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet. 6:1997;147-155.
    • (1997) Hum Mol Genet , vol.6 , pp. 147-155
    • Chong, S.S.1    Pack, S.D.2    Roschke, A.V.3    Tanigami, A.4    Carrozzo, R.5    Smith, A.C.6
  • 31
    • 0035942359 scopus 로고    scopus 로고
    • Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
    • Cormand B., Pihko H., Bayes M., Valanne L., Santavuori P., Talim B., et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 56:2001;1059-1069.
    • (2001) Neurology , vol.56 , pp. 1059-1069
    • Cormand, B.1    Pihko, H.2    Bayes, M.3    Valanne, L.4    Santavuori, P.5    Talim, B.6
  • 33
    • 0028012644 scopus 로고
    • Walker-Warburg syndrome: Report of three affected sibs
    • Rodgers B.L., Vanner L.V., Pai G.S., Sens M.A. Walker-Warburg syndrome report of three affected sibs . Am J Med Genet. 49:1994;198-201.
    • (1994) Am J Med Genet , vol.49 , pp. 198-201
    • Rodgers, B.L.1    Vanner, L.V.2    Pai, G.S.3    Sens, M.A.4
  • 35
    • 0020575528 scopus 로고
    • Brief clinical report: HARD (+/- E) syndrome: Report of a sixth family with support for autosomal-recessive inheritance
    • Ayme S., Mattei J.F. Brief clinical report HARD (+/- E) syndrome: report of a sixth family with support for autosomal-recessive inheritance . Am J Med Genet. 14:1983;759-766.
    • (1983) Am J Med Genet , vol.14 , pp. 759-766
    • Ayme, S.1    Mattei, J.F.2
  • 36
    • 0025257234 scopus 로고
    • Isolated lissencephaly: Report of four patients from two unrelated families
    • Pavone L., Gullotta F., Incorpora G., Grasso S., Dobyns W.B. Isolated lissencephaly report of four patients from two unrelated families . J Child Neurol. 5:1990;52-59.
    • (1990) J Child Neurol , vol.5 , pp. 52-59
    • Pavone, L.1    Gullotta, F.2    Incorpora, G.3    Grasso, S.4    Dobyns, W.B.5
  • 37
    • 0033989902 scopus 로고    scopus 로고
    • A study of EEG, electroretinogram,visual evoked potential, and eye movements in classical lissencephaly
    • Hodgkins P.R., Kriss A., Boyd S., et al. A study of EEG, electroretinogram,visual evoked potential, and eye movements in classical lissencephaly. Dev Med Child Neurol. 42:2000;48-52.
    • (2000) Dev Med Child Neurol , vol.42 , pp. 48-52
    • Hodgkins, P.R.1    Kriss, A.2    Boyd, S.3
  • 38
    • 0021278623 scopus 로고
    • Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome
    • Bordarier C., Aicardi J., Goutieres F. Congenital hydrocephalus and eye abnormalities with severe developmental brain defects Warburg's syndrome . Ann Neurol. 16:1984;60-65.
    • (1984) Ann Neurol , vol.16 , pp. 60-65
    • Bordarier, C.1    Aicardi, J.2    Goutieres, F.3
  • 39
    • 0028940205 scopus 로고
    • Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome
    • Chitayat D., Toi A., Babul R., Levin A., Michael J., Summers A., et al. Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. Am J Med Genet. 56:1995;351-358.
    • (1995) Am J Med Genet , vol.56 , pp. 351-358
    • Chitayat, D.1    Toi, A.2    Babul, R.3    Levin, A.4    Michael, J.5    Summers, A.6
  • 42
    • 0342906570 scopus 로고    scopus 로고
    • Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
    • Hong S.E., Shugart Y.Y., Huang D.T., Shahwan S.A., Grant P.E., Hourihane J.O., et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 26:2000;93-96.
    • (2000) Nat Genet , vol.26 , pp. 93-96
    • Hong, S.E.1    Shugart, Y.Y.2    Huang, D.T.3    Shahwan, S.A.4    Grant, P.E.5    Hourihane, J.O.6
  • 43
  • 45
    • 0033213319 scopus 로고    scopus 로고
    • Direct binding of reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation
    • Hiesberger T., Trommsdorff M., Howell B.W., Goffinet A., Mumby M.C., Cooper A., et al. Direct binding of reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron. 24:1999;481-489.
    • (1999) Neuron , vol.24 , pp. 481-489
    • Hiesberger, T.1    Trommsdorff, M.2    Howell, B.W.3    Goffinet, A.4    Mumby, M.C.5    Cooper, A.6
  • 46
    • 0034605045 scopus 로고    scopus 로고
    • Defects in axonal elongation and neuronal migration in mice with disrupted tau and map1b genes
    • Takei Y., Teng J., Harada A., Hirokawa N. Defects in axonal elongation and neuronal migration in mice with disrupted tau and map1b genes. J Cell Biol. 150:2000;989-1000.
    • (2000) J Cell Biol , vol.150 , pp. 989-1000
    • Takei, Y.1    Teng, J.2    Harada, A.3    Hirokawa, N.4
  • 47
    • 0034642292 scopus 로고    scopus 로고
    • The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
    • Cardoso C., Leventer R.J., Matsumoto N., Kuc J.A., Ramocki M.B., Menborn S.K., et al. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet. 9:2000;3019-3028.
    • (2000) Hum Mol Genet , vol.9 , pp. 3019-3028
    • Cardoso, C.1    Leventer, R.J.2    Matsumoto, N.3    Kuc, J.A.4    Ramocki, M.B.5    Menborn, S.K.6
  • 48
    • 0028023599 scopus 로고
    • Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase
    • [corrected]
    • Hattori M., Adachi H., Tsujimoto M., Arai H., Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase. Nature. 370:1994;216-218. [corrected].
    • (1994) Nature , vol.370 , pp. 216-218
    • Hattori, M.1    Adachi, H.2    Tsujimoto, M.3    Arai, H.4    Inoue, K.5
  • 49
    • 0033777678 scopus 로고    scopus 로고
    • A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function
    • Faulkner N.E., Dujardin D.L., Tai C.Y. A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. Nat Cell Biol. 2:2000;784-791.
    • (2000) Nat Cell Biol , vol.2 , pp. 784-791
    • Faulkner, N.E.1    Dujardin, D.L.2    Tai, C.Y.3
  • 50
  • 51
    • 7844223263 scopus 로고    scopus 로고
    • LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
    • Pilz D.T., Matsumoto N., Minnerath S., Mills P., Gleeson J.G., Allen K.M., et al. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 7:1998;2029-2037.
    • (1998) Hum Mol Genet , vol.7 , pp. 2029-2037
    • Pilz, D.T.1    Matsumoto, N.2    Minnerath, S.3    Mills, P.4    Gleeson, J.G.5    Allen, K.M.6
  • 52
    • 0033152450 scopus 로고    scopus 로고
    • Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons
    • Gleeson J.G., Lin P.T., Flanagan L.A., Walsh C.A. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron. 23:1999;257-271.
    • (1999) Neuron , vol.23 , pp. 257-271
    • Gleeson, J.G.1    Lin, P.T.2    Flanagan, L.A.3    Walsh, C.A.4
  • 53
    • 0032498306 scopus 로고    scopus 로고
    • Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
    • Gleeson J.G., Allen K.M., Fox J.W., Lamperti E.D., Berkovic S., Scheffer I., et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 92:1998;63-72.
    • (1998) Cell , vol.92 , pp. 63-72
    • Gleeson, J.G.1    Allen, K.M.2    Fox, J.W.3    Lamperti, E.D.4    Berkovic, S.5    Scheffer, I.6
  • 54
    • 0034699019 scopus 로고    scopus 로고
    • Disabled-1 is expressed in type AII amacrine cells in the mouse retina
    • Rice D.S., Curran T. Disabled-1 is expressed in type AII amacrine cells in the mouse retina. J Comp Neurol. 424:2000;327-328.
    • (2000) J Comp Neurol , vol.424 , pp. 327-328
    • Rice, D.S.1    Curran, T.2
  • 55
    • 0033360965 scopus 로고    scopus 로고
    • Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping
    • Cormand B., Avela K., Pihko H., Santavuori P., Talim B., Topaloglu H., et al. Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet. 64:1999;126-135.
    • (1999) Am J Hum Genet , vol.64 , pp. 126-135
    • Cormand, B.1    Avela, K.2    Pihko, H.3    Santavuori, P.4    Talim, B.5    Topaloglu, H.6
  • 56
    • 0027364850 scopus 로고
    • Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
    • Toda T., Segawa M., Nomura Y., et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 5:1993;283-286.
    • (1993) Nat Genet , vol.5 , pp. 283-286
    • Toda, T.1    Segawa, M.2    Nomura, Y.3
  • 57
    • 19244362767 scopus 로고    scopus 로고
    • Linkage-disequilibrium mapping narrows the Fukuyama-type congential muscular dystrophy (FCMD) candidate region to <100 kb
    • Toda T., Miyake M., Kobayashi K., Mizuno K., Saito K., Osawa M., et al. Linkage-disequilibrium mapping narrows the Fukuyama-type congential muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet. 59:1996;1313-1320.
    • (1996) Am J Hum Genet , vol.59 , pp. 1313-1320
    • Toda, T.1    Miyake, M.2    Kobayashi, K.3    Mizuno, K.4    Saito, K.5    Osawa, M.6
  • 58
    • 0028931768 scopus 로고
    • Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome
    • Toda T., Yoshioka M., Nakahori Y., Kanazawa I., Nakamura Y., Nakagome Y. Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol. 37:1995;99-101.
    • (1995) Ann Neurol , vol.37 , pp. 99-101
    • Toda, T.1    Yoshioka, M.2    Nakahori, Y.3    Kanazawa, I.4    Nakamura, Y.5    Nakagome, Y.6
  • 59
    • 0032560851 scopus 로고    scopus 로고
    • An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
    • Kobayashi K., Nakahori Y., Miyake M., Matsumura K., Kondo-Iida E., Nomura T., et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 394:1998;388-392.
    • (1998) Nature , vol.394 , pp. 388-392
    • Kobayashi, K.1    Nakahori, Y.2    Miyake, M.3    Matsumura, K.4    Kondo-Iida, E.5    Nomura, T.6
  • 60
    • 18044400450 scopus 로고    scopus 로고
    • Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
    • Yoshida A., Kobayashi K., Manya H. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell. 1:2001;717-724.
    • (2001) Dev Cell , vol.1 , pp. 717-724
    • Yoshida, A.1    Kobayashi, K.2    Manya, H.3
  • 61
    • 0038185363 scopus 로고    scopus 로고
    • Mutations in the O-Mannosyltransferase Gene POMT1 give rise to the severe neuronal migration disorder Walker-Warbug syndrome
    • Beltran-Valero De Bernabe D., Currier S. Mutations in the O-Mannosyltransferase Gene POMT1 give rise to the severe neuronal migration disorder Walker-Warbug syndrome. Am J Hum Genet. 71:(5):2002;1033-1043.
    • (2002) Am J Hum Genet , vol.71 , Issue.5 , pp. 1033-1043
    • Beltran-Valero De Bernabe, D.1    Currier, S.2
  • 62
    • 0033581949 scopus 로고    scopus 로고
    • The fukutin protein family predicted enzymes modifying cell-surface molecules
    • Aravind L., Koonin E.V. The fukutin protein family predicted enzymes modifying cell-surface molecules. Curr Biol. 9:(22):1999;R836-R837.
    • (1999) Curr Biol , vol.9 , Issue.22
    • Aravind, L.1    Koonin, E.V.2
  • 63
    • 0035212037 scopus 로고    scopus 로고
    • Mutations in the fukutin related protein gene (FKRD) cause a form of congenital muscular dystrophy with secondary laminin alpha 2-defining and abnormal glycosylation of alpha-dystroglycan
    • Brockington M., Blake D.J. Mutations in the fukutin related protein gene (FKRD) cause a form of congenital muscular dystrophy with secondary laminin alpha 2-defining and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 69:(6):2001;1198-1209.
    • (2001) Am J Hum Genet , vol.69 , Issue.6 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2
  • 64
    • 0026607784 scopus 로고
    • Comparative glycosylation in neural adhesion molecules
    • Wing D.R., Rademacher T.W. Comparative glycosylation in neural adhesion molecules. Biochem Soc Trans. 20:(2):1992;363-390.
    • (1992) Biochem Soc Trans , vol.20 , Issue.2 , pp. 363-390
    • Wing, D.R.1    Rademacher, T.W.2


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