메뉴 건너뛰기




Volumn 72, Issue 5, 2009, Pages 410-418

Midbrain-hindbrain involvement in lissencephalies

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGYRIA; ARTICLE; BRAIN MALFORMATION; CHILD; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE MUTATION; HEMISPHERE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MESENCEPHALON; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RHOMBENCEPHALON; SCHOOL CHILD; BRAIN CORTEX; CLASSIFICATION; COBBLESTONE LISSENCEPHALY; CONGENITAL MALFORMATION; FEMALE; GENETIC SCREENING; GENETICS; GENOTYPE; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; RETROSPECTIVE STUDY;

EID: 61549099628     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000333256.74903.94     Document Type: Article
Times cited : (62)

References (30)
  • 1
    • 0000684034 scopus 로고    scopus 로고
    • Congenital malformations of the brain and skull
    • 4th ed. Philadelphia: Lippincott Williams & Wilkins;
    • Barkovich AJ. Congenital malformations of the brain and skull. In: Pediatric Neuroimaging, 4th ed. Philadelphia: Lippincott Williams & Wilkins; 2005.
    • (2005) Pediatric Neuroimaging
    • Barkovich, A.J.1
  • 2
    • 0037390829 scopus 로고    scopus 로고
    • Lissencephaly and the molecular basis of neuronal migration
    • Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003;12: R89-R96.
    • (2003) Hum Mol Genet , vol.12
    • Kato, M.1    Dobyns, W.B.2
  • 3
    • 26444434815 scopus 로고    scopus 로고
    • Genotypically defined lissencephalies show distinct pathologies
    • Forman MS, Squier W, Dobyns WB, et al. Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol 2005;64:847-857.
    • (2005) J Neuropathol Exp Neurol , vol.64 , pp. 847-857
    • Forman, M.S.1    Squier, W.2    Dobyns, W.B.3
  • 4
    • 0033595252 scopus 로고    scopus 로고
    • Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
    • Dobyns WB, Truwit CL, Ross ME, et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999;53:270-277.
    • (1999) Neurology , vol.53 , pp. 270-277
    • Dobyns, W.B.1    Truwit, C.L.2    Ross, M.E.3
  • 5
    • 0027486966 scopus 로고
    • Lissencephaly: A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
    • Dobyns WB, Reiner O, Carrozzo R, et al. Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993; 270:2838-2842.
    • (1993) JAMA , vol.270 , pp. 2838-2842
    • Dobyns, W.B.1    Reiner, O.2    Carrozzo, R.3
  • 6
    • 0035213853 scopus 로고    scopus 로고
    • Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations
    • Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 2001;32:256-263.
    • (2001) Neuropediatrics , vol.32 , pp. 256-263
    • Ross, M.E.1    Swanson, K.2    Dobyns, W.B.3
  • 7
    • 0030837406 scopus 로고    scopus 로고
    • Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities
    • van der Knaap MS, Smit LM, Barth PG, et al. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997; 42:50-59.
    • (1997) Ann Neurol , vol.42 , pp. 50-59
    • van der Knaap, M.S.1    Smit, L.M.2    Barth, P.G.3
  • 8
    • 0029991119 scopus 로고    scopus 로고
    • Brain MR in Fukuyama congenital muscular dystrophy
    • Aida N, Tamagawa K, Takada K, et al. Brain MR in Fukuyama congenital muscular dystrophy. AJNR Am J Neuroradiol 1996;17:605-613.
    • (1996) AJNR Am J Neuroradiol , vol.17 , pp. 605-613
    • Aida, N.1    Tamagawa, K.2    Takada, K.3
  • 9
    • 0028074926 scopus 로고
    • MRI of the brain in muscle-eye-brain (MEB) disease
    • Valanne L, Pihko H, Katevuo K, et al. MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology 1994; 36:473-476.
    • (1994) Neuroradiology , vol.36 , pp. 473-476
    • Valanne, L.1    Pihko, H.2    Katevuo, K.3
  • 10
    • 32944460140 scopus 로고    scopus 로고
    • Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
    • Mercuri E, Topaloglu H, Brockington M, et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol 2006;63: 251-257.
    • (2006) Arch Neurol , vol.63 , pp. 251-257
    • Mercuri, E.1    Topaloglu, H.2    Brockington, M.3
  • 12
    • 32144433872 scopus 로고    scopus 로고
    • A developmental and genetic classification for malformations of cortical development
    • Barkovich AJ, Kuzniecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology 2005;65:1873-1887.
    • (2005) Neurology , vol.65 , pp. 1873-1887
    • Barkovich, A.J.1    Kuzniecky, R.I.2    Jackson, G.D.3
  • 13
    • 0019487358 scopus 로고
    • Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites
    • Schurig V, Orman AV, Bowen P. Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet 1981;9: 43-53.
    • (1981) Am J Med Genet , vol.9 , pp. 43-53
    • Schurig, V.1    Orman, A.V.2    Bowen, P.3
  • 14
    • 23944470349 scopus 로고    scopus 로고
    • Boycott KM, Flavelle S, Bureau A, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005;77:477-483.
    • Boycott KM, Flavelle S, Bureau A, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005;77:477-483.
  • 15
    • 19444378363 scopus 로고    scopus 로고
    • Merosin-deficient congenital muscular dystrophy (CMD): A study of 25 Brazilian patients using MRI
    • Leite CC, Lucato LT, Martin MGM. Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI. Pediatr Radiol 2005;35:572-579.
    • (2005) Pediatr Radiol , vol.35 , pp. 572-579
    • Leite, C.C.1    Lucato, L.T.2    Martin, M.G.M.3
  • 16
    • 0034192753 scopus 로고    scopus 로고
    • Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy
    • Philpot J, Pennock J, Cowan F, et al. Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol 2000;4:109-114.
    • (2000) Eur J Paediatr Neurol , vol.4 , pp. 109-114
    • Philpot, J.1    Pennock, J.2    Cowan, F.3
  • 17
    • 0342906570 scopus 로고    scopus 로고
    • Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
    • Hong SE, Shugart YY, Huang DT, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000;26:93-96.
    • (2000) Nat Genet , vol.26 , pp. 93-96
    • Hong, S.E.1    Shugart, Y.Y.2    Huang, D.T.3
  • 18
    • 26844470918 scopus 로고    scopus 로고
    • Autosomal recessive cerebellar hypoplasia in the Hutterite population
    • Glass HC, Boycott KM, Adams C, et al. Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev Med Child Neurol 2005;47:691-695.
    • (2005) Dev Med Child Neurol , vol.47 , pp. 691-695
    • Glass, H.C.1    Boycott, K.M.2    Adams, C.3
  • 19
    • 10744226857 scopus 로고    scopus 로고
    • Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
    • Longman C, Brockington M, Torelli S, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2003;12:2853-2861.
    • (2003) Hum Mol Genet , vol.12 , pp. 2853-2861
    • Longman, C.1    Brockington, M.2    Torelli, S.3
  • 20
    • 3042850663 scopus 로고    scopus 로고
    • Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
    • Beltran-Valero de Bernabé D, Voit T, Longman C, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 2004;41:e61.
    • (2004) J Med Genet , vol.41
    • Beltran-Valero de Bernabé, D.1    Voit, T.2    Longman, C.3
  • 21
    • 26944438148 scopus 로고    scopus 로고
    • POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
    • van Reeuwijk J, Janssen M, van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 2005;42:907-912.
    • (2005) J Med Genet , vol.42 , pp. 907-912
    • van Reeuwijk, J.1    Janssen, M.2    van den Elzen, C.3
  • 22
    • 33646356732 scopus 로고    scopus 로고
    • The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
    • van Reeuwijk J, Maugenre S, van den Elzen C, et al. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 2006;27:453-459.
    • (2006) Hum Mutat , vol.27 , pp. 453-459
    • van Reeuwijk, J.1    Maugenre, S.2    van den Elzen, C.3
  • 23
    • 34250352221 scopus 로고    scopus 로고
    • Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
    • van Reeuwijk J, Grewal PK, Salih MA, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007;121:685-690.
    • (2007) Hum Genet , vol.121 , pp. 685-690
    • van Reeuwijk, J.1    Grewal, P.K.2    Salih, M.A.3
  • 24
    • 33745057441 scopus 로고    scopus 로고
    • Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain
    • Qu Q, Crandall JE, Luo T, et al. Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain. Eur J Neurosci 2006; 23:2877-2886.
    • (2006) Eur J Neurosci , vol.23 , pp. 2877-2886
    • Qu, Q.1    Crandall, J.E.2    Luo, T.3
  • 25
    • 37849013276 scopus 로고    scopus 로고
    • A developmental classification of malformations of the brainstem
    • Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol 2007;62:625-639.
    • (2007) Ann Neurol , vol.62 , pp. 625-639
    • Barkovich, A.J.1    Millen, K.J.2    Dobyns, W.B.3
  • 26
    • 0032822119 scopus 로고    scopus 로고
    • X-linked lissencephaly with absent corpus callosum and ambiguous genitalia
    • Dobyns WB, Berry-Kravis E, Havernick NJ, et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 1999;86:331-337.
    • (1999) Am J Med Genet , vol.86 , pp. 331-337
    • Dobyns, W.B.1    Berry-Kravis, E.2    Havernick, N.J.3
  • 27
    • 33947417339 scopus 로고    scopus 로고
    • Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity
    • Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci 2007;8:287-299.
    • (2007) Nat Rev Neurosci , vol.8 , pp. 287-299
    • Paul, L.K.1    Brown, W.S.2    Adolphs, R.3
  • 28
    • 0029655911 scopus 로고    scopus 로고
    • Absence makes the search grow longer
    • Dobyns WB. Absence makes the search grow longer. Am J Hum Genet 1996;58:7-16.
    • (1996) Am J Hum Genet , vol.58 , pp. 7-16
    • Dobyns, W.B.1
  • 29
    • 33845565114 scopus 로고    scopus 로고
    • Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency
    • Kappeler C, Dhenain M, Tuy FPD, et al. Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency. J Comp Neurol 2007;500:239-254.
    • (2007) J Comp Neurol , vol.500 , pp. 239-254
    • Kappeler, C.1    Dhenain, M.2    Tuy, F.P.D.3
  • 30
    • 30744444931 scopus 로고    scopus 로고
    • The phenotypic spectrum of Baraitser-Winter Syndrome: A new case and review of literature
    • Ganesh A, Al-Kindi A, Jain R, Raeburn S. The phenotypic spectrum of Baraitser-Winter Syndrome: a new case and review of literature. J AAPOS 2005;9:604-606.
    • (2005) J AAPOS , vol.9 , pp. 604-606
    • Ganesh, A.1    Al-Kindi, A.2    Jain, R.3    Raeburn, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.