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Volumn 35, Issue 1, 2015, Pages 200-220

Congenital abnormalities of the posterior fossa

Author keywords

[No Author keywords available]

Indexed keywords

CONGENITAL MALFORMATION; EMBRYOLOGY; FEMALE; HUMAN; MULTIPLE MALFORMATION SYNDROME; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTERIOR FOSSA; PREGNANCY; PROCEDURES; PROGNOSIS;

EID: 84922465526     PISSN: 02715333     EISSN: 15271323     Source Type: Journal    
DOI: 10.1148/rg.351140038     Document Type: Article
Times cited : (117)

References (87)
  • 1
    • 0036674092 scopus 로고    scopus 로고
    • Analysis and classification of cerebellar malformations
    • Patel S, Barkovich AJ. Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 2002;23(7): 1074–1087.
    • (2002) AJNR am J Neuroradiol , vol.23 , Issue.7 , pp. 1074-1087
    • Patel, S.1    Barkovich, A.J.2
  • 2
    • 0142058076 scopus 로고    scopus 로고
    • Human malformations of the midbrain and hindbrain: Review and proposed classification scheme
    • Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab 2003;80(1-2):36–53.
    • (2003) Mol Genet Metab , vol.80 , Issue.1-2 , pp. 36-53
    • Parisi, M.A.1    Dobyns, W.B.2
  • 3
    • 72649095193 scopus 로고    scopus 로고
    • A developmental and genetic classification for midbrain-hindbrain malformations
    • (pt 12)
    • Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009;132(pt 12):3199–3230.
    • (2009) Brain , vol.132 , pp. 3199-3230
    • Barkovich, A.J.1    Millen, K.J.2    Dobyns, W.B.3
  • 4
    • 2142825062 scopus 로고    scopus 로고
    • Cerebellum: Small brain but large confusion—a review of selected cerebellar malformations and disruptions
    • Boltshauser E. Cerebellum: small brain but large confusion—a review of selected cerebellar malformations and disruptions. Am J Med Genet A 2004;126A(4):376–385.
    • (2004) Am J Med Genet A , vol.126 A , Issue.4 , pp. 376-385
    • Boltshauser, E.1
  • 5
    • 68349096178 scopus 로고    scopus 로고
    • Morphological spectrum of prenatal cerebellar disruptions
    • Poretti A, Prayer D, Boltshauser E. Morphological spectrum of prenatal cerebellar disruptions. Eur J Paediatr Neurol 2009;13(5):397–407.
    • (2009) Eur J Paediatr Neurol , vol.13 , Issue.5 , pp. 397-407
    • Poretti, A.1    Prayer, D.2    Boltshauser, E.3
  • 6
    • 84886286539 scopus 로고    scopus 로고
    • Elements of morphology: General terms for congenital anomalies
    • Hennekam RC, Biesecker LG, Allanson JE, et al. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A 2013;161A(11):2726–2733.
    • (2013) Am J Med Genet A , vol.161 A , Issue.11 , pp. 2726-2733
    • Hennekam, R.C.1    Biesecker, L.G.2    Allanson, J.E.3
  • 7
    • 84860218327 scopus 로고    scopus 로고
    • Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood
    • de Vries LS, Mancini GM. Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood. Ann Neurol 2012;71(4):439–441.
    • (2012) Ann Neurol , vol.71 , Issue.4 , pp. 439-441
    • De Vries, L.S.1    Mancini, G.M.2
  • 8
    • 84875242015 scopus 로고    scopus 로고
    • Midbrain and hindbrain malformations: Advances in clinical diagnosis, imaging, and genetics
    • Doherty D, Millen KJ, Barkovich AJ. Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics. Lancet Neurol 2013;12(4):381–393.
    • (2013) Lancet Neurol , vol.12 , Issue.4 , pp. 381-393
    • Doherty, D.1    Millen, K.J.2    Barkovich, A.J.3
  • 9
    • 84872717044 scopus 로고    scopus 로고
    • Diffusion tensor imaging and fiber tractography in brain malformations
    • Poretti A, Meoded A, Rossi A, Raybaud C, Huisman TA. Diffusion tensor imaging and fiber tractography in brain malformations. Pediatr Radiol 2013;43(1):28–54.
    • (2013) Pediatr Radiol , vol.43 , Issue.1 , pp. 28-54
    • Poretti, A.1    Meoded, A.2    Rossi, A.3    Raybaud, C.4    Huisman, T.A.5
  • 10
    • 84906076173 scopus 로고    scopus 로고
    • Susceptibility-weighted imaging in pediatric neuroimaging
    • Bosemani T, Poretti A, Huisman TA. Susceptibility-weighted imaging in pediatric neuroimaging. J Magn Reson Imaging 2014;40(3):530–544.
    • (2014) J Magn Reson Imaging , vol.40 , Issue.3 , pp. 530-544
    • Bosemani, T.1    Poretti, A.2    Huisman, T.A.3
  • 11
    • 0027771377 scopus 로고
    • Pontocerebellar hypoplasias: An overview of a group of inherited neurodegenerative disorders with fetal onset
    • Barth PG. Pontocerebellar hypoplasias: an overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993;15(6):411–422.
    • (1993) Brain Dev , vol.15 , Issue.6 , pp. 411-422
    • Barth, P.G.1
  • 12
    • 0035014944 scopus 로고    scopus 로고
    • Dandy-Walker syndrome: Different modalities of treatment and outcome in 42 cases
    • Kumar R, Jain MK, Chhabra DK. Dandy-Walker syndrome: different modalities of treatment and outcome in 42 cases. Childs Nerv Syst 2001;17(6):348–352.
    • (2001) Childs Nerv Syst , vol.17 , Issue.6 , pp. 348-352
    • Kumar, R.1    Jain, M.K.2    Chhabra, D.K.3
  • 13
    • 76049117278 scopus 로고    scopus 로고
    • Dandy-Walker malformation: Analysis of 19 cases
    • Alexiou GA, Sfakianos G, Prodromou N. Dandy-Walker malformation: analysis of 19 cases. J Child Neurol 2010;25(2):188–191.
    • (2010) J Child Neurol , vol.25 , Issue.2 , pp. 188-191
    • Alexiou, G.A.1    Sfakianos, G.2    Prodromou, N.3
  • 14
    • 0038823655 scopus 로고    scopus 로고
    • Intellectual prognosis of the Dandy-Walker malformation in children: The importance of vermian lobulation
    • Boddaert N, Klein O, Ferguson N, et al. Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation. Neuroradiology 2003; 45(5):320–324.
    • (2003) Neuroradiology , vol.45 , Issue.5 , pp. 320-324
    • Boddaert, N.1    Klein, O.2    Ferguson, N.3
  • 15
    • 63049083462 scopus 로고    scopus 로고
    • Neurodevelopmental outcomes in children with cerebellar malformations: A systematic review
    • Bolduc ME, Limperopoulos C. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol 2009;51(4):256–267.
    • (2009) Dev Med Child Neurol , vol.51 , Issue.4 , pp. 256-267
    • Bolduc, M.E.1    Limperopoulos, C.2
  • 16
    • 0029889271 scopus 로고    scopus 로고
    • Cystic malformations of the posterior cranial fossa originating from a defect of the posterior membranous area: Mega cisterna magna and persisting Blake’s pouch—two separate entities
    • Tortori-Donati P, Fondelli MP, Rossi A, Carini S. Cystic malformations of the posterior cranial fossa originating from a defect of the posterior membranous area: mega cisterna magna and persisting Blake’s pouch—two separate entities. Childs Nerv Syst 1996;12(6):303–308.
    • (1996) Childs Nerv Syst , vol.12 , Issue.6 , pp. 303-308
    • Tortori-Donati, P.1    Fondelli, M.P.2    Rossi, A.3    Carini, S.4
  • 17
    • 4544364988 scopus 로고    scopus 로고
    • A different approach to cysts of the posterior fossa
    • Nelson MD Jr, Maher K, Gilles FH. A different approach to cysts of the posterior fossa. Pediatr Radiol 2004;34(9): 720–732.
    • (2004) Pediatr Radiol , vol.34 , Issue.9 , pp. 720-732
    • Nelson, M.D.1    Maher, K.2    Gilles, F.H.3
  • 18
    • 77956187226 scopus 로고    scopus 로고
    • The clinical spectrum of Blake’s pouch cyst: Report of six illustrative cases
    • Cornips EM, Overvliet GM, Weber JW, et al. The clinical spectrum of Blake’s pouch cyst: report of six illustrative cases. Childs Nerv Syst 2010;26(8):1057–1064.
    • (2010) Childs Nerv Syst , vol.26 , Issue.8 , pp. 1057-1064
    • Cornips, E.M.1    Overvliet, G.M.2    Weber, J.W.3
  • 19
    • 84902549114 scopus 로고    scopus 로고
    • Posterior fossa cysts and cyst-like malformations (Blake’s pouch cyst, arachnoid cysts, and mega cisterna magna)
    • In: Boltshauser E, Schmahmann JD, eds., London, England: Mac Keith
    • Poretti A, Scheer I, Boltshauser E. Posterior fossa cysts and cyst-like malformations (Blake’s pouch cyst, arachnoid cysts, and mega cisterna magna). In: Boltshauser E, Schmahmann JD, eds. Cerebellar disorders in children. London, England: Mac Keith, 2012; 212–216.
    • (2012) Cerebellar Disorders in Children , pp. 212-216
    • Poretti, A.1    Scheer, I.2    Boltshauser, E.3
  • 20
    • 33748511881 scopus 로고    scopus 로고
    • Evaluation of CSF flow patterns of posterior fossa cystic malformations using CSF flow MR imaging
    • Yildiz H, Yazici Z, Hakyemez B, Erdogan C, Parlak M. Evaluation of CSF flow patterns of posterior fossa cystic malformations using CSF flow MR imaging. Neuroradiology 2006;48(9):595–605.
    • (2006) Neuroradiology , vol.48 , Issue.9 , pp. 595-605
    • Yildiz, H.1    Yazici, Z.2    Hakyemez, B.3    Erdogan, C.4    Parlak, M.5
  • 21
    • 0024341118 scopus 로고
    • Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging
    • Barkovich AJ, Kjos BO, Norman D, Edwards MS. Revised classification of posterior fossa cysts and cystlike malformations based on the results of multiplanar MR imaging. AJR Am J Roentgenol 1989;153(6):1289–1300.
    • (1989) AJR am J Roentgenol , vol.153 , Issue.6 , pp. 1289-1300
    • Barkovich, A.J.1    Kjos, B.O.2    Norman, D.3    Edwards, M.S.4
  • 22
    • 84903366966 scopus 로고    scopus 로고
    • Pediatric intracranial arachnoid cysts: Comparative effectiveness of surgical treatment options
    • Ali ZS, Lang SS, Bakar D, Storm PB, Stein SC. Pediatric intracranial arachnoid cysts: comparative effectiveness of surgical treatment options. Childs Nerv Syst 2014;30(3):461–469.
    • (2014) Childs Nerv Syst , vol.30 , Issue.3 , pp. 461-469
    • Ali, Z.S.1    Lang, S.S.2    Bakar, D.3    Storm, P.B.4    Stein, S.C.5
  • 23
    • 34147100734 scopus 로고    scopus 로고
    • Evaluation of the management of arachnoid cyst of the posterior fossa in pediatric population: Experience over 27 years
    • Marin-Sanabria EA, Yamamoto H, Nagashima T, Kohmura E. Evaluation of the management of arachnoid cyst of the posterior fossa in pediatric population: experience over 27 years. Childs Nerv Syst 2007;23(5):535–542.
    • (2007) Childs Nerv Syst , vol.23 , Issue.5 , pp. 535-542
    • Marin-Sanabria, E.A.1    Yamamoto, H.2    Nagashima, T.3    Kohmura, E.4
  • 24
    • 0026457883 scopus 로고
    • Dandy-Walker variant: Prenatal sonographic features and clinical outcome
    • Estroff JA, Scott MR, Benacerraf BR. Dandy-Walker variant: prenatal sonographic features and clinical outcome. Radiology 1992;185(3):755–758.
    • (1992) Radiology , vol.185 , Issue.3 , pp. 755-758
    • Estroff, J.A.1    Scott, M.R.2    Benacerraf, B.R.3
  • 25
    • 33645852571 scopus 로고    scopus 로고
    • Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: Potential pitfalls and neurodevelopmental outcome
    • Limperopoulos C, Robertson RL, Estroff JA, et al. Diagnosis of inferior vermian hypoplasia by fetal magnetic resonance imaging: potential pitfalls and neurodevelopmental outcome. Am J Obstet Gynecol 2006;194(4):1070–1076.
    • (2006) Am J Obstet Gynecol , vol.194 , Issue.4 , pp. 1070-1076
    • Limperopoulos, C.1    Robertson, R.L.2    Estroff, J.A.3
  • 27
    • 61549099628 scopus 로고    scopus 로고
    • Midbrain-hindbrain involvement in lissencephalies
    • Jissendi-Tchofo P, Kara S, Barkovich AJ. Midbrain-hindbrain involvement in lissencephalies. Neurology 2009;72(5): 410–418.
    • (2009) Neurology , vol.72 , Issue.5 , pp. 410-418
    • Jissendi-Tchofo, P.1    Kara, S.2    Barkovich, A.J.3
  • 28
    • 0342906570 scopus 로고    scopus 로고
    • Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
    • Published correction appears in Nat Genet 2001;27(2):225.]
    • Hong SE, Shugart YY, Huang DT, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000; 26(1):93–96.[Published correction appears in Nat Genet 2001;27(2):225.]
    • (2000) Nat Genet , vol.26 , Issue.1 , pp. 93-96
    • Hong, S.E.1    Shugart, Y.Y.2    Huang, D.T.3
  • 29
    • 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, 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(3):477–483.
    • (2005) Am J Hum Genet , vol.77 , Issue.3 , pp. 477-483
    • Boycott, K.M.1    Flavelle, S.2    Bureau, A.3
  • 30
    • 84874342214 scopus 로고    scopus 로고
    • Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
    • (pt 2)
    • Cushion TD, Dobyns WB, Mullins JG, et al. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 2013;136(pt 2):536–548.
    • (2013) Brain , vol.136 , pp. 536-548
    • Cushion, T.D.1    Dobyns, W.B.2    Mullins, J.G.3
  • 31
    • 18544387322 scopus 로고    scopus 로고
    • Rhombencephalosynapsis: Clinical findings and neuroimaging in 9 children
    • Toelle SP, Yalcinkaya C, Kocer N, et al. Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. Neuropediatrics 2002;33(4):209–214.
    • (2002) Neuropediatrics , vol.33 , Issue.4 , pp. 209-214
    • Toelle, S.P.1    Yalcinkaya, C.2    Kocer, N.3
  • 34
    • 84860603464 scopus 로고    scopus 로고
    • Rhombencephalosynapsis: A hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity
    • (pt 5)
    • Ishak GE, Dempsey JC, Shaw DW, et al. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain 2012;135(pt 5):1370–1386.
    • (2012) Brain , vol.135 , pp. 1370-1386
    • Ishak, G.E.1    Dempsey, J.C.2    Shaw, D.W.3
  • 35
    • 84870458188 scopus 로고    scopus 로고
    • Macrocerebellum: Significance and pathogenic considerations
    • Poretti A, Mall V, Smitka M, et al. Macrocerebellum: significance and pathogenic considerations. Cerebellum 2012;11(4):1026–1036.
    • (2012) Cerebellum , vol.11 , Issue.4 , pp. 1026-1036
    • Poretti, A.1    Mall, V.2    Smitka, M.3
  • 36
    • 84895139016 scopus 로고    scopus 로고
    • Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum
    • Alqahtani E, Huisman TA, Boltshauser E, et al. Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum. Eur J Paediatr Neurol 2014;18(2):211–217.
    • (2014) Eur J Paediatr Neurol , vol.18 , Issue.2 , pp. 211-217
    • Alqahtani, E.1    Huisman, T.A.2    Boltshauser, E.3
  • 37
    • 84870424761 scopus 로고    scopus 로고
    • Macrocerebellum
    • In: Boltshauser E, Schmahmann JD, eds., London, England: Mac Keith
    • Poretti A, Boltshauser E. Macrocerebellum. In: Boltshauser E, Schmahmann JD, eds. Cerebellar disorders in children. London, England: Mac Keith, 2012; 192–194.
    • (2012) Cerebellar Disorders in Children , pp. 192-194
    • Poretti, A.1    Boltshauser, E.2
  • 38
    • 84905829707 scopus 로고    scopus 로고
    • Cerebellar dysplasia
    • In: Boltshauser E, Schmahmann JD, eds., London, England: Mac Keith
    • Poretti A, Boltshauser E. Cerebellar dysplasia. In: Boltshauser E, Schmahmann JD, eds. Cerebellar disorders in children. London, England: Mac Keith, 2012; 172–176.
    • (2012) Cerebellar Disorders in Children , pp. 172-176
    • Poretti, A.1    Boltshauser, E.2
  • 39
    • 0036939526 scopus 로고    scopus 로고
    • Abnormalities of cerebellar foliation and fissuration: Classification, neurogenetics and clinicoradiological correlations
    • Demaerel P. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Neuroradiology 2002;44(8):639–646.
    • (2002) Neuroradiology , vol.44 , Issue.8 , pp. 639-646
    • Demaerel, P.1
  • 40
    • 0031052947 scopus 로고    scopus 로고
    • Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: A newly described autosomal recessive disorder
    • Chudley AE, McCullough C, McCullough DW. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. Am J Med Genet 1997;68(3):350–356.
    • (1997) Am J Med Genet , vol.68 , Issue.3 , pp. 350-356
    • Chudley, A.E.1    McCullough, C.2    McCullough, D.W.3
  • 41
    • 84862128389 scopus 로고    scopus 로고
    • GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome
    • Published correction appears in Am J Hum Genet 2012; 91(1):209
    • Doherty D, Chudley AE, Coghlan G, et al. GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome. Am J Hum Genet 2012; 90(6):1088–1093. [Published correction appears in Am J Hum Genet 2012; 91(1):209.]
    • (2012) Am J Hum Genet , vol.90 , Issue.6 , pp. 1088-1093
    • Doherty, D.1    Chudley, A.E.2    Coghlan, G.3
  • 42
    • 78650693958 scopus 로고    scopus 로고
    • Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
    • Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2011;134(pt 1):143–156.
    • (2011) Brain , vol.134 , pp. 143-156
    • Namavar, Y.1    Barth, P.G.2    Kasher, P.R.3
  • 43
    • 79960175586 scopus 로고    scopus 로고
    • Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia
    • Namavar Y, Barth PG, Poll-The BT, Baas F. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis 2011;6:50.
    • (2011) Orphanet J Rare Dis , vol.6
    • Namavar, Y.1    Barth, P.G.2    Poll-The, B.T.3    Baas, F.4
  • 44
    • 84868200452 scopus 로고    scopus 로고
    • CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
    • Mochida GH, Ganesh VS, de Michelena MI, et al. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet 2012;44(11):1260–1264.
    • (2012) Nat Genet , vol.44 , Issue.11 , pp. 1260-1264
    • Mochida, G.H.1    Ganesh, V.S.2    De Michelena, M.I.3
  • 45
    • 84881193117 scopus 로고    scopus 로고
    • AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder
    • Akizu N, Cantagrel V, Schroth J, et al. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell 2013;154 (3):505–517.
    • (2013) Cell , vol.154 , Issue.3 , pp. 505-517
    • Akizu, N.1    Cantagrel, V.2    Schroth, J.3
  • 46
    • 84899581919 scopus 로고    scopus 로고
    • CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
    • Schaffer AE, Eggens VR, Caglayan AO, et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell 2014;157(3):651–663.
    • (2014) Cell , vol.157 , Issue.3 , pp. 651-663
    • Schaffer, A.E.1    Eggens, V.R.2    Caglayan, A.O.3
  • 47
    • 42149107052 scopus 로고    scopus 로고
    • Differential diagnosis of cerebellar atrophy in childhood
    • Poretti A, Wolf NI, Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol 2008;12(3):155–167.
    • (2008) Eur J Paediatr Neurol , vol.12 , Issue.3 , pp. 155-167
    • Poretti, A.1    Wolf, N.I.2    Boltshauser, E.3
  • 48
    • 84871749391 scopus 로고    scopus 로고
    • The shrunken, bright cerebellum: A characteristic MRI finding in congenital disorders of glycosylation type 1a
    • Feraco P, Mirabelli-Badenier M, Severino M, et al. The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. AJNR Am J Neuroradiol 2012;33(11):2062–2067.
    • (2012) AJNR am J Neuroradiol , vol.33 , Issue.11 , pp. 2062-2067
    • Feraco, P.1    Mirabelli-Badenier, M.2    Severino, M.3
  • 49
    • 24344485189 scopus 로고    scopus 로고
    • Disruption of cerebellar development: Potential complication of extreme prematurity
    • Messerschmidt A, Brugger PC, Boltshauser E, et al. Disruption of cerebellar development: potential complication of extreme prematurity. AJNR Am J Neuroradiol 2005;26(7):1659–1667.
    • (2005) AJNR am J Neuroradiol , vol.26 , Issue.7 , pp. 1659-1667
    • Messerschmidt, A.1    Brugger, P.C.2    Boltshauser, E.3
  • 50
    • 50449089620 scopus 로고    scopus 로고
    • Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
    • Najm J, Horn D, Wimplinger I, et al. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 2008;40(9):1065–1067.
    • (2008) Nat Genet , vol.40 , Issue.9 , pp. 1065-1067
    • Najm, J.1    Horn, D.2    Wimplinger, I.3
  • 51
    • 77958594727 scopus 로고    scopus 로고
    • Neuroradiologic features of CASK mutations
    • Takanashi J, Arai H, Nabatame S, et al. Neuroradiologic features of CASK mutations. AJNR Am J Neuroradiol 2010;31(9):1619–1622.
    • (2010) AJNR am J Neuroradiol , vol.31 , Issue.9 , pp. 1619-1622
    • Takanashi, J.1    Arai, H.2    Nabatame, S.3
  • 52
    • 84858809441 scopus 로고    scopus 로고
    • Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: Confirmation of a recognizable phenotype and first description of a male mosaic patient
    • Burglen L, Chantot-Bastaraud S, Garel C, et al. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis 2012;7:18.
    • (2012) Orphanet J Rare Dis , vol.7
    • Burglen, L.1    Chantot-Bastaraud, S.2    Garel, C.3
  • 53
    • 70349163999 scopus 로고    scopus 로고
    • Joubert syndrome: Insights into brain development, cilium biology, and complex disease
    • Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol 2009;16(3):143–154.
    • (2009) Semin Pediatr Neurol , vol.16 , Issue.3 , pp. 143-154
    • Doherty, D.1
  • 54
    • 84881544806 scopus 로고    scopus 로고
    • Joubert syndrome: Congenital cerebellar ataxia with the molar tooth
    • Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 2013;12(9):894–905.
    • (2013) Lancet Neurol , vol.12 , Issue.9 , pp. 894-905
    • Romani, M.1    Micalizzi, A.2    Valente, E.M.3
  • 55
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
    • discussion
    • Gleeson JG, Keeler LC, Parisi MA, et al. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A 2004; 125A(2):125–134; discussion 117.
    • (2004) Am J Med Genet A , vol.125 A , Issue.2 , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3
  • 56
    • 80052882184 scopus 로고    scopus 로고
    • Joubert syndrome and related disorders: Spectrum of neuroimaging findings in 75 patients
    • Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 2011;32(8):1459–1463.
    • (2011) AJNR am J Neuroradiol , vol.32 , Issue.8 , pp. 1459-1463
    • Poretti, A.1    Huisman, T.A.2    Scheer, I.3    Boltshauser, E.4
  • 58
    • 84855582627 scopus 로고    scopus 로고
    • Delineation and diagnostic criteria of oral-facial-digital syndrome type VI
    • Poretti A, Vitiello G, Hennekam RC, et al. Delineation and diagnostic criteria of oral-facial-digital syndrome type VI. Orphanet J Rare Dis 2012;7:4.
    • (2012) Orphanet J Rare Dis , vol.7
    • Poretti, A.1    Vitiello, G.2    Hennekam, R.C.3
  • 59
  • 60
    • 57749100373 scopus 로고    scopus 로고
    • Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
    • Clement E, Mercuri E, Godfrey C, et al. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 2008;64(5):573–582.
    • (2008) Ann Neurol , vol.64 , Issue.5 , pp. 573-582
    • Clement, E.1    Mercuri, E.2    Godfrey, C.3
  • 61
    • 84896488858 scopus 로고    scopus 로고
    • Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: A new disease?
    • Poretti A, Häusler M, von Moers A, et al. Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? Cerebellum 2014;13(1):79–88.
    • (2014) Cerebellum , vol.13 , Issue.1 , pp. 79-88
    • Poretti, A.1    Häusler, M.2    Von Moers, A.3
  • 62
    • 34848837334 scopus 로고    scopus 로고
    • Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
    • (pt 10)
    • Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007;130(pt 10): 2725–2735.
    • (2007) Brain , vol.130 , pp. 2725-2735
    • Godfrey, C.1    Clement, E.2    Mein, R.3
  • 63
    • 34548227899 scopus 로고    scopus 로고
    • Pontine tegmental cap dysplasia: A novel brain malformation with a defect in axonal guidance
    • (pt 9)
    • Barth PG, Majoie CB, Caan MW, et al. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 2007;130(pt 9):2258–2266.
    • (2007) Brain , vol.130 , pp. 2258-2266
    • Barth, P.G.1    Majoie, C.B.2    Caan, M.W.3
  • 64
    • 79958077265 scopus 로고    scopus 로고
    • Pontine tegmental cap dysplasia: Developmental and cognitive outcome in three adolescent patients
    • Briguglio M, Pinelli L, Giordano L, et al. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis 2011;6:36.
    • (2011) Orphanet J Rare Dis , vol.6
    • Briguglio, M.1    Pinelli, L.2    Giordano, L.3
  • 65
    • 70349910567 scopus 로고    scopus 로고
    • Pontine tegmental cap dysplasia: The severe end of the clinical spectrum
    • Rauscher C, Poretti A, Neuhann TM, et al. Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics 2009;40(1):43–46.
    • (2009) Neuropediatrics , vol.40 , Issue.1 , pp. 43-46
    • Rauscher, C.1    Poretti, A.2    Neuhann, T.M.3
  • 66
    • 58249101220 scopus 로고    scopus 로고
    • Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation
    • Jissendi-Tchofo P, Doherty D, McGillivray G, et al. Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. AJNR Am J Neuroradiol 2009;30(1):113–119.
    • (2009) AJNR am J Neuroradiol , vol.30 , Issue.1 , pp. 113-119
    • Jissendi-Tchofo, P.1    Doherty, D.2    McGillivray, G.3
  • 67
    • 2642584008 scopus 로고    scopus 로고
    • Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
    • Jen JC, Chan WM, Bosley TM, et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004;304(5676):1509–1513.
    • (2004) Science , vol.304 , Issue.5676 , pp. 1509-1513
    • Jen, J.C.1    Chan, W.M.2    Bosley, T.M.3
  • 68
    • 2942672967 scopus 로고    scopus 로고
    • MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis
    • Rossi A, Catala M, Biancheri R, Di Comite R, Tortori-Donati P. MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis. AJNR Am J Neuroradiol 2004;25(6):1046–1048.
    • (2004) AJNR am J Neuroradiol , vol.25 , Issue.6 , pp. 1046-1048
    • Rossi, A.1    Catala, M.2    Biancheri, R.3    Di Comite, R.4    Tortori-Donati, P.5
  • 69
    • 20144388532 scopus 로고    scopus 로고
    • Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3
    • Bosley TM, Salih MA, Jen JC, et al. Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Neurology 2005;64(7):1196–1203.
    • (2005) Neurology , vol.64 , Issue.7 , pp. 1196-1203
    • Bosley, T.M.1    Salih, M.A.2    Jen, J.C.3
  • 70
    • 33747043538 scopus 로고    scopus 로고
    • Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations
    • Sicotte NL, Salamon G, Shattuck DW, et al. Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology 2006;67(3):519–521.
    • (2006) Neurology , vol.67 , Issue.3 , pp. 519-521
    • Sicotte, N.L.1    Salamon, G.2    Shattuck, D.W.3
  • 71
    • 84864642798 scopus 로고    scopus 로고
    • Diencephalic-mesencephalic junction dysplasia: A novel recessive brain malformation
    • (pt 8)
    • Zaki MS, Saleem SN, Dobyns WB, et al. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain 2012;135(pt 8):2416–2427.
    • (2012) Brain , vol.135 , pp. 2416-2427
    • Zaki, M.S.1    Saleem, S.N.2    Dobyns, W.B.3
  • 72
    • 81355159939 scopus 로고    scopus 로고
    • Cerebellar injury in the preterm infant
    • In: Boltshauser E, Schmahmann JD, eds., London, England: Mac Keith
    • Limperopoulos C. Cerebellar injury in the preterm infant. In: Boltshauser E, Schmahmann JD, eds. Cerebellar disorders in children. London, England: Mac Keith, 2011; 314–321.
    • (2011) Cerebellar Disorders in Children , pp. 314-321
    • Limperopoulos, C.1
  • 73
    • 0035014223 scopus 로고    scopus 로고
    • Cerebellar imaging: An important signpost in paediatric neurology
    • Boltshauser E. Cerebellar imaging: an important signpost in paediatric neurology. Childs Nerv Syst 2001;17(4-5): 211–216.
    • (2001) Childs Nerv Syst , vol.17 , Issue.4-5 , pp. 211-216
    • Boltshauser, E.1
  • 75
    • 9644255692 scopus 로고    scopus 로고
    • Mutations in PTF1A cause pancreatic and cerebellar agenesis
    • Sellick GS, Barker KT, Stolte-Dijkstra I, et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet 2004;36(12):1301–1305.
    • (2004) Nat Genet , vol.36 , Issue.12 , pp. 1301-1305
    • Sellick, G.S.1    Barker, K.T.2    Stolte-Dijkstra, I.3
  • 76
    • 0032847052 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: Report of a new recessive syndrome
    • Hoveyda N, Shield JP, Garrett C, et al. Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome. J Med Genet 1999;36(9):700–704.
    • (1999) J Med Genet , vol.36 , Issue.9 , pp. 700-704
    • Hoveyda, N.1    Shield, J.P.2    Garrett, C.3
  • 77
    • 84902544433 scopus 로고    scopus 로고
    • Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
    • Poretti A, Boltshauser E, Doherty D. Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet 2014;166(2):211–226.
    • (2014) Am J Med Genet C Semin Med Genet , vol.166 , Issue.2 , pp. 211-226
    • Poretti, A.1    Boltshauser, E.2    Doherty, D.3
  • 79
    • 84908208916 scopus 로고    scopus 로고
    • Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: Significance and implications for prenatal diagnosis
    • Massoud M, Cagneaux M, Garel C, et al. Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis. Ultrasound Obstet Gynecol 2014;44(4):447–454.
    • (2014) Ultrasound Obstet Gynecol , vol.44 , Issue.4 , pp. 447-454
    • Massoud, M.1    Cagneaux, M.2    Garel, C.3
  • 80
    • 79952707970 scopus 로고    scopus 로고
    • Unilateral cerebellar hypoplasia with different clinical features
    • Benbir G, Kara S, Yalcinkaya BC, et al. Unilateral cerebellar hypoplasia with different clinical features. Cerebellum 2011;10(1):49–60.
    • (2011) Cerebellum , vol.10 , Issue.1 , pp. 49-60
    • Benbir, G.1    Kara, S.2    Yalcinkaya, B.C.3
  • 81
    • 77953385696 scopus 로고    scopus 로고
    • Cerebellar cleft: Confirmation of the neuroimaging pattern
    • Poretti A, Huisman TA, Cowan FM, et al. Cerebellar cleft: confirmation of the neuroimaging pattern. Neuropediatrics 2009;40(5):228–233.
    • (2009) Neuropediatrics , vol.40 , Issue.5 , pp. 228-233
    • Poretti, A.1    Huisman, T.A.2    Cowan, F.M.3
  • 83
    • 20344376442 scopus 로고    scopus 로고
    • Late gestation cerebellar growth is rapid and impeded by premature birth
    • Limperopoulos C, Soul JS, Gauvreau K, et al. Late gestation cerebellar growth is rapid and impeded by premature birth. Pediatrics 2005;115(3):688–695.
    • (2005) Pediatrics , vol.115 , Issue.3 , pp. 688-695
    • Limperopoulos, C.1    Soul, J.S.2    Gauvreau, K.3
  • 84
    • 53249123273 scopus 로고    scopus 로고
    • Preterm birth and disruptive cerebellar development: Assessment of perinatal risk factors
    • Messerschmidt A, Prayer D, Brugger PC, et al. Preterm birth and disruptive cerebellar development: assessment of perinatal risk factors. Eur J Paediatr Neurol 2008;12(6):455–460.
    • (2008) Eur J Paediatr Neurol , vol.12 , Issue.6 , pp. 455-460
    • Messerschmidt, A.1    Prayer, D.2    Brugger, P.C.3
  • 86
    • 70349272701 scopus 로고    scopus 로고
    • Cerebellum of the premature infant: Rapidly developing, vulnerable, clinically important
    • Volpe JJ. Cerebellum of the premature infant: rapidly developing, vulnerable, clinically important. J Child Neurol 2009;24(9):1085–1104.
    • (2009) J Child Neurol , vol.24 , Issue.9 , pp. 1085-1104
    • Volpe, J.J.1
  • 87
    • 33644619824 scopus 로고    scopus 로고
    • Cerebellar hemorrhage in the preterm infant: Ultrasonographic findings and risk factors
    • Limperopoulos C, Benson CB, Bassan H, et al. Cerebellar hemorrhage in the preterm infant: ultrasonographic findings and risk factors. Pediatrics 2005;116(3):717–724.
    • (2005) Pediatrics , vol.116 , Issue.3 , pp. 717-724
    • Limperopoulos, C.1    Benson, C.B.2    Bassan, H.3


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