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Volumn 105, Issue 7, 2007, Pages 392-394

Joubert syndrome: A major brain malformation

Author keywords

Brainstem malformation; Dysplasia of cerebeller vermis; Joubert syndrome

Indexed keywords

PHENOBARBITAL;

EID: 38749105133     PISSN: 00195847     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (9)
  • 1
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    • Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperapnea, abnormal eye movements, ataxia, and retardation
    • Joubert M, Eisenring JJ, Robb JP, et al - Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperapnea, abnormal eye movements, ataxia, and retardation. Neurology 1969; 19: 813-25.
    • (1969) Neurology , vol.19 , pp. 813-825
    • Joubert, M.1    Eisenring, J.J.2    Robb, J.P.3
  • 2
    • 0019421986 scopus 로고
    • Joubert syndrome : Clinical and polygraphic observations in a further case
    • Boltshauser E, Herdan M, Dumermuth G, Isler W - Joubert syndrome : clinical and polygraphic observations in a further case. Neuropediatrics 1981; 12: 181-91.
    • (1981) Neuropediatrics , vol.12 , pp. 181-191
    • Boltshauser, E.1    Herdan, M.2    Dumermuth, G.3    Isler, W.4
  • 3
    • 0032833611 scopus 로고    scopus 로고
    • Ocular and oculomotor signs in Joubert syndrome
    • Tusa RJ, Hove MT - Ocular and oculomotor signs in Joubert syndrome. J Child Neurol 1999; 14: 621-7.
    • (1999) J Child Neurol , vol.14 , pp. 621-627
    • Tusa, R.J.1    Hove, M.T.2
  • 4
    • 39149084883 scopus 로고    scopus 로고
    • Neuroembryology, genetic programming and malformations of the central nervous system
    • Menkes JH, Sarnat HB, editors, 6th ed. Philadelphia: Lipincott Williams and Wilkins
    • Menkes JH, Sarnat HB - Neuroembryology, genetic programming and malformations of the central nervous system. In: Menkes JH, Sarnat HB, editors. Child Neurology. 6th ed. Philadelphia: Lipincott Williams and Wilkins,2000: 332-42.
    • (2000) Child Neurology , pp. 332-342
    • Menkes, J.H.1    Sarnat, H.B.2
  • 5
    • 0031438402 scopus 로고    scopus 로고
    • Joubert syndrome' revisited: Key ocular motor signs with magnetic resonance imaging correlation
    • Maria BL, Hoang KBN, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al - 'Joubert syndrome' revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997; 12: 423-30.
    • (1997) J Child Neurol , vol.12 , pp. 423-430
    • Maria, B.L.1    Hoang, K.B.N.2    Tusa, R.J.3    Mancuso, A.A.4    Hamed, L.M.5    Quisling, R.G.6
  • 7
    • 0021685295 scopus 로고
    • The prenatal diagnosis of Joubert's syndrome of familial agenesis of cerebellar vermis
    • Campbell S, Tsannatos C, Pearce JM - The prenatal diagnosis of Joubert's syndrome of familial agenesis of cerebellar vermis. Prenat Diagn 1984; 4: 391-5.
    • (1984) Prenat Diagn , vol.4 , pp. 391-395
    • Campbell, S.1    Tsannatos, C.2    Pearce, J.M.3
  • 9
    • 8844271686 scopus 로고    scopus 로고
    • Mutations in the AHI1 gene, encoding Jouberin, cause Joubert syndrome with cortical polymicrogyria
    • Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, et al - Mutations in the AHI1 gene, encoding Jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 2004; 75: 979-87.
    • (2004) Am J Hum Genet , vol.75 , pp. 979-987
    • Dixon-Salazar, T.1    Silhavy, J.L.2    Marsh, S.E.3    Louie, C.M.4    Scott, L.C.5    Gururaj, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.