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Volumn 6, Issue 4, 2010, Pages 384-388

Joubert syndrome associated with severe central sleep apnea

Author keywords

Adaptive servo ventilation; Bilevel positive airway pressure; Central apnea; Joubert syndrome; Respiratory failure

Indexed keywords

BRONCHODILATING AGENT;

EID: 77956274259     PISSN: 15509389     EISSN: 15509397     Source Type: Journal    
DOI: 10.5664/jcsm.27882     Document Type: Article
Times cited : (27)

References (15)
  • 1
    • 0032851825 scopus 로고    scopus 로고
    • Clinical features and revised diagnostic criteria in Joubert syndrome
    • discussion 90-1
    • Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999;14:583-90; discussion 90-1.
    • (1999) J Child Neurol , vol.14 , pp. 583-590
    • Maria, B.L.1    Boltshauser, E.2    Palmer, S.C.3    Tran, T.X.4
  • 2
    • 0014572497 scopus 로고
    • Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
    • Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, 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    Andermann, F.4
  • 3
    • 34347225615 scopus 로고    scopus 로고
    • CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    • Brancati F, Barrano G, Silhavy JL, et al. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet 2007;81:104-13.
    • (2007) Am J Hum Genet , vol.81 , pp. 104-113
    • Brancati, F.1    Barrano, G.2    Silhavy, J.L.3
  • 5
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
    • discussion 17
    • 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:125-34; discussion 17.
    • (2004) Am J Med Genet A , vol.125 A , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3
  • 6
    • 0042262413 scopus 로고    scopus 로고
    • Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation
    • Valente EM, Salpietro DC, Brancati F, et al. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 2003;73:663-70.
    • (2003) Am J Hum Genet , vol.73 , pp. 663-670
    • Valente, E.M.1    Salpietro, D.C.2    Brancati, F.3
  • 7
    • 0042763544 scopus 로고    scopus 로고
    • Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3
    • Keeler LC, Marsh SE, Leeflang EP, et al. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet 2003;73:656-62.
    • (2003) Am J Hum Genet , vol.73 , pp. 656-662
    • Keeler, L.C.1    Marsh, S.E.2    Leeflang, E.P.3
  • 8
    • 55249102622 scopus 로고    scopus 로고
    • CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
    • Gorden NT, Arts HH, Parisi MA, et al. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 2008;83:559-71.
    • (2008) Am J Hum Genet , vol.83 , pp. 559-571
    • Gorden, N.T.1    Arts, H.H.2    Parisi, M.A.3
  • 9
    • 48349109103 scopus 로고    scopus 로고
    • Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
    • Cantagrel V, Silhavy JL, Bielas SL, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 2008;83:170-9.
    • (2008) Am J Hum Genet , vol.83 , pp. 170-179
    • Cantagrel, V.1    Silhavy, J.L.2    Bielas, S.L.3
  • 10
    • 0017577011 scopus 로고
    • Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis
    • Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie 1977;8:57-66. (Pubitemid 8086225)
    • (1977) Neuropadiatrie , vol.8 , Issue.1 , pp. 57-66
    • Boltshauser, E.1    Isler, W.2
  • 11
    • 0031438402 scopus 로고    scopus 로고
    • "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation
    • Maria BL, Hoang KB, Tusa RJ, 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.2    Tusa, R.J.3
  • 15
    • 34247642594 scopus 로고    scopus 로고
    • Adaptive servoventilation versus noninvasive positive pressure ventilation for central, mixed, and complex sleep apnea syndromes
    • Morgenthaler TI, Gay PC, Gordon N, Brown LK. Adaptive servoventilation versus noninvasive positive pressure ventilation for central, mixed, and complex sleep apnea syndromes. Sleep 2007;30:468-75.
    • (2007) Sleep , vol.30 , pp. 468-475
    • Morgenthaler, T.I.1    Gay, P.C.2    Gordon, N.3    Brown, L.K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.