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Volumn 50, Issue 10, 2009, Pages 4669-4677

Eye movement abnormalities in joubert syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BINOCULAR CONVERGENCE; CEREBELLUM FLOCCULUS; CHILD; CLINICAL ARTICLE; COLOBOMA; CONVERGENT STRABISMUS; DIVERGENT STRABISMUS; ELECTRORETINOGRAPHY; ENCEPHALOCELE; EYE FUNDUS; EYE MOVEMENT; EYE MOVEMENT DISORDER; FEMALE; GAZE; GENE DELETION; GENE MUTATION; HUMAN; INFANT; INSULIN DEPENDENT DIABETES MELLITUS; JOUBERT SYNDROME; KIDNEY FAILURE; MALE; MYOPIA; NEWBORN; NIGHT VISION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; OPTOKINETIC NYSTAGMUS; PHOTOPIC VISION; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; VERTICAL STRABISMUS; VESTIBULOOCULAR REFLEX; VIDEOOCULOGRAPHY; VISUAL ORIENTATION; VISUAL STIMULATION; BRAIN STEM; CEREBELLUM; CONGENITAL MALFORMATION; NERVOUS SYSTEM MALFORMATION; PATHOPHYSIOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; RETINA DEGENERATION; SMOOTH PURSUIT EYE MOVEMENT; SYNDROME; VISUAL SYSTEM EXAMINATION;

EID: 70349173426     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-3299     Document Type: Article
Times cited : (37)

References (69)
  • 1
    • 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(9):813-825.
    • (1969) Neurology , vol.19 , Issue.9 , pp. 813-825
    • Joubert, M.1    Eisenring, J.J.2    Robb, J.P.3    Andermann, F.4
  • 2
    • 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. Neuropadiatrics. 1977;8(1):57-66.
    • (1977) Neuropadiatrics , vol.8 , Issue.1 , pp. 57-66
    • Boltshauser, E.1    Isler, W.2
  • 3
    • 0021149532 scopus 로고
    • Joubert's syndrome with retinal dysplasia: Neonatal tachypnoea as the clue to a genetic brain-eye malformation
    • King MD, Dudgeon J, Stephenson JB. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child. 1984;59(8):709-718.
    • (1984) Arch Dis Child , vol.59 , Issue.8 , pp. 709-718
    • King, M.D.1    Dudgeon, J.2    Stephenson, J.B.3
  • 5
    • 0032851825 scopus 로고    scopus 로고
    • Clinical features and revised diagnostic criteria in Joubert syndrome
    • discussion 590-1
    • Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14(9):583-590; discussion 590-1.
    • (1999) J Child Neurol , vol.14 , Issue.9 , pp. 583-590
    • Maria, B.L.1    Boltshauser, E.2    Palmer, S.C.3    Tran, T.X.4
  • 6
    • 34247611467 scopus 로고    scopus 로고
    • Joubert syndrome (and related disorders) (OMIM 213300)
    • Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet. 2007;15(5): 511-521.
    • (2007) Eur J Hum Genet , vol.15 , Issue.5 , pp. 511-521
    • Parisi, M.A.1    Doherty, D.2    Chance, P.F.3    Glass, I.A.4
  • 7
    • 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(7):423-430.
    • (1997) J Child Neurol , vol.12 , Issue.7 , pp. 423-430
    • Maria, B.L.1    Hoang, K.B.2    Tusa, R.J.3
  • 8
    • 0032989288 scopus 로고    scopus 로고
    • Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance
    • Maria BL, Quisling RG, Rosainz LC, et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol. 1999;14(6):368-376.
    • (1999) J Child Neurol , vol.14 , Issue.6 , pp. 368-376
    • Maria, B.L.1    Quisling, R.G.2    Rosainz, L.C.3
  • 9
    • 0032871936 scopus 로고    scopus 로고
    • Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome
    • discussion 669-672
    • Quisling RG, Barkovich AJ, Maria BL. Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol. 1999;14(10):628-35; discussion 669-672.
    • (1999) J Child Neurol , vol.14 , Issue.10 , pp. 628-635
    • Quisling, R.G.1    Barkovich, A.J.2    Maria, B.L.3
  • 10
    • 0035208999 scopus 로고    scopus 로고
    • Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome
    • Maria BL, Bozorgmanesh A, Kimmel KN, Theriaque D, Quisling RG. Quantitative assessment of brainstem development in Joubert syndrome and Dandy-Walker syndrome. J Child Neurol. 2001; 16(10):751-758.
    • (2001) J Child Neurol , vol.16 , Issue.10 , pp. 751-758
    • Maria, B.L.1    Bozorgmanesh, A.2    Kimmel, K.N.3    Theriaque, D.4    Quisling, R.G.5
  • 11
    • 10744229593 scopus 로고    scopus 로고
    • Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
    • discussion 117
    • 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;125(2):125-34; discussion 117.
    • (2004) Am J Med Genet A , vol.125 , Issue.2 , pp. 125-134
    • Gleeson, J.G.1    Keeler, L.C.2    Parisi, M.A.3
  • 12
    • 0018079385 scopus 로고
    • Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome
    • Friede RL, Boltshauser E. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev Med Child Neurol. 1978; 20(6):758-763.
    • (1978) Dev Med Child Neurol , vol.20 , Issue.6 , pp. 758-763
    • Friede, R.L.1    Boltshauser, E.2
  • 13
    • 0032833614 scopus 로고    scopus 로고
    • Neuropathology of Joubert syndrome
    • discussion 669-672
    • Yachnis AT, Rorke LB. Neuropathology of Joubert syndrome. J Child Neurol. 1999;14(10):655-659; discussion 669-672.
    • (1999) J Child Neurol , vol.14 , Issue.10 , pp. 655-659
    • Yachnis, A.T.1    Rorke, L.B.2
  • 14
    • 0034928789 scopus 로고    scopus 로고
    • The role of the cerebellum in voluntary eye movements
    • Robinson FR, Fuchs AF. The role of the cerebellum in voluntary eye movements. Annu Rev Neurosci. 2001;24:981-1004.
    • (2001) Annu Rev Neurosci , vol.24 , pp. 981-1004
    • Robinson, F.R.1    Fuchs, A.F.2
  • 16
    • 77958107081 scopus 로고    scopus 로고
    • Animal oculomotor data illuminate cerebellum-related eye movement
    • PhD, PhD, In: LeDoux M, ed., New York: Elsevier
    • Robinson FR, PhD, Phillips JO, PhD, Weiss AH. Animal oculomotor data illuminate cerebellum-related eye movement. In: LeDoux M, ed. Animal Models of Movement Disorders. New York: Elsevier; 2004:1-21.
    • (2004) Animal Models of Movement Disorders , pp. 1-21
    • Robinson, F.R.1
  • 17
    • 0021670824 scopus 로고
    • A syndrome of congenital retinal dystrophy and saccade palsy: A subset of Leber's amaurosis
    • Moore AT, Taylor DS. A syndrome of congenital retinal dystrophy and saccade palsy: a subset of Leber's amaurosis. Br J Ophthalmol. 1984;68(6):421-431.
    • (1984) Br J Ophthalmol , vol.68 , Issue.6 , pp. 421-431
    • Moore, A.T.1    Taylor, D.S.2
  • 18
    • 0032946767 scopus 로고    scopus 로고
    • Joubert's syndrome: New cases and review of clinicopathologic correlation
    • Sztriha L, Al-Gazali LI, Aithala GR, Nork M. Joubert's syndrome: new cases and review of clinicopathologic correlation. Pediatr Neurol. 1999;20(4):274-281.
    • (1999) Pediatr Neurol , vol.20 , Issue.4 , pp. 274-281
    • Sztriha, L.1    Al-Gazali, L.I.2    Aithala, G.R.3    Nork, M.4
  • 20
    • 0036703887 scopus 로고    scopus 로고
    • Evaluation of vestibular function in young children
    • Phillips JO, Backous DD. Evaluation of vestibular function in young children. Otolaryngol Clin North Am. 2002;35(4):765-790.
    • (2002) Otolaryngol Clin North Am , vol.35 , Issue.4 , pp. 765-790
    • Phillips, J.O.1    Backous, D.D.2
  • 21
    • 0021906501 scopus 로고
    • Dynamic modification of the vestibulo-ocular reflex by the nodulus and uvula
    • Waespe W, Cohen B, Raphan T. Dynamic modification of the vestibulo-ocular reflex by the nodulus and uvula. Science. 1985; 228(4696):199-202.
    • (1985) Science , vol.228 , Issue.4696 , pp. 199-202
    • Waespe, W.1    Cohen, B.2    Raphan, T.3
  • 23
    • 0026768922 scopus 로고
    • The neuronal substrate of integration in the oculomotor system
    • Fukushima K, Kaneko CR, Fuchs AF. The neuronal substrate of integration in the oculomotor system. Prog Neurobiol. 1992;39(6): 609-639.
    • (1992) Prog Neurobiol , vol.39 , Issue.6 , pp. 609-639
    • Fukushima, K.1    Kaneko, C.R.2    Fuchs, A.F.3
  • 24
    • 0032870184 scopus 로고    scopus 로고
    • Nystagmus induced by pharmacological inactivation of the brainstem ocular motor integrator in monkey
    • Arnold DB, Robinson DA, Leigh RJ. Nystagmus induced by pharmacological inactivation of the brainstem ocular motor integrator in monkey. Vision Res. 1999;39(25):4286-4295.
    • (1999) Vision Res , vol.39 , Issue.25 , pp. 4286-4295
    • Arnold, D.B.1    Robinson, D.A.2    Leigh, R.J.3
  • 25
    • 0031945196 scopus 로고    scopus 로고
    • Deficits in vertical and torsional eye movements after uni- and bilateral muscimol inactivation of the interstitial nucleus of Cajal of the alert monkey
    • Helmchen C, Rambold H, Fuhry L, Buttner U. Deficits in vertical and torsional eye movements after uni- and bilateral muscimol inactivation of the interstitial nucleus of Cajal of the alert monkey. Exp Brain Res. 1998;119(4):436-452.
    • (1998) Exp Brain Res , vol.119 , Issue.4 , pp. 436-452
    • Helmchen, C.1    Rambold, H.2    Fuhry, L.3    Buttner, U.4
  • 26
    • 0023440347 scopus 로고
    • See-saw nystagmus and brainstem infarction: MRI findings
    • Kanter DS, Ruff RL, Leigh RJ, Modic M. See-saw nystagmus and brainstem infarction: MRI findings. Neuroophthalmology. 1987; 7(5):279-283.
    • (1987) Neuroophthalmology , vol.7 , Issue.5 , pp. 279-283
    • Kanter, D.S.1    Ruff, R.L.2    Leigh, R.J.3    Modic, M.4
  • 27
    • 0027978653 scopus 로고
    • Jerkwaveform see-saw nystagmus due to unilateral meso-diencephalic lesion
    • Halmagyi GM, Aw ST, Dehaene I, Curthoys IS, Todd MJ. Jerkwaveform see-saw nystagmus due to unilateral meso-diencephalic lesion. Brain. 1994;117:789-803.
    • (1994) Brain , vol.117 , pp. 789-803
    • Halmagyi, G.M.1    Aw, S.T.2    Dehaene, I.3    Curthoys, I.S.4    Todd, M.J.5
  • 28
    • 0026423921 scopus 로고
    • Generation of torsional and vertical eye position signals by the interstitial nucleus of Cajal
    • Crawford JD, Cadera W, Vilis T. Generation of torsional and vertical eye position signals by the interstitial nucleus of Cajal. Science. 1991;252(5012):1551-1553.
    • (1991) Science , vol.252 , Issue.5012 , pp. 1551-1553
    • Crawford, J.D.1    Cadera, W.2    Vilis, T.3
  • 29
    • 2342424350 scopus 로고    scopus 로고
    • Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: Functional magnetic resonance imaging (MRI) study
    • Parisi MA, Pinter JD, Glass IA, et al. Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study. J Child Neurol. 2004;19(3):214-218.
    • (2004) J Child Neurol , vol.19 , Issue.3 , pp. 214-218
    • Parisi, M.A.1    Pinter, J.D.2    Glass, I.A.3
  • 30
  • 31
    • 33646734855 scopus 로고    scopus 로고
    • Diffusion tensor imaging of midline posterior fossa malformations
    • Widjaja E, Blaser S, Raybaud C. Diffusion tensor imaging of midline posterior fossa malformations. Pediatr Radiol. 2006; 36(6):510-517.
    • (2006) Pediatr Radiol , vol.36 , Issue.6 , pp. 510-517
    • Widjaja, E.1    Blaser, S.2    Raybaud, C.3
  • 32
    • 0016661154 scopus 로고
    • Saccadic localization of visual targets by the very young human infant
    • Aslin RN, Salapatek P. Saccadic localization of visual targets by the very young human infant. Percept Psychophys. 1975;17:293-302.
    • (1975) Percept Psychophys , vol.17 , pp. 293-302
    • Aslin, R.N.1    Salapatek, P.2
  • 33
    • 0027372453 scopus 로고
    • Role of the caudal fastigial nucleus in saccade generation. I. Neuronal discharge pattern
    • Fuchs AF, Robinson FR, Straube A. Role of the caudal fastigial nucleus in saccade generation. I. Neuronal discharge pattern. J Neurophysiol. 1993;70(5):1723-1740.
    • (1993) J Neurophysiol , vol.70 , Issue.5 , pp. 1723-1740
    • Fuchs, A.F.1    Robinson, F.R.2    Straube, A.3
  • 34
    • 0027442555 scopus 로고
    • Role of the caudal fastigial nucleus in saccade generation. II. Effects of muscimol inactivation
    • Robinson FR, Straube A, Fuchs AF. Role of the caudal fastigial nucleus in saccade generation. II. Effects of muscimol inactivation. J Neurophysiol. 1993;70(5):1741-1758.
    • (1993) J Neurophysiol , vol.70 , Issue.5 , pp. 1741-1758
    • Robinson, F.R.1    Straube, A.2    Fuchs, A.F.3
  • 35
    • 0036884317 scopus 로고    scopus 로고
    • The brainstem control of saccadic eye movements
    • Sparks DL. The brainstem control of saccadic eye movements. Nat Rev Neurosci. 2002;3(12):952-964.
    • (2002) Nat Rev Neurosci , vol.3 , Issue.12 , pp. 952-964
    • Sparks, D.L.1
  • 36
    • 0036176044 scopus 로고    scopus 로고
    • The brainstem burst generator for saccadic eye movements: A modern synthesis
    • Scudder CA, Kaneko CS, Fuchs AF. The brainstem burst generator for saccadic eye movements: a modern synthesis. Exp Brain Res. 2002;142(4):439-462.
    • (2002) Exp Brain Res , vol.142 , Issue.4 , pp. 439-462
    • Scudder, C.A.1    Kaneko, C.S.2    Fuchs, A.F.3
  • 37
    • 0013864156 scopus 로고
    • The excitatory synaptic action of climbing fibers on the Purkinje cells of the cerebellum
    • Eccles JC, Llinas R, Sasaki K. The excitatory synaptic action of climbing fibers on the Purkinje cells of the cerebellum. J Physiol (Lond). 1966;182:268-296.
    • (1966) J Physiol (Lond) , vol.182 , pp. 268-296
    • Eccles, J.C.1    Llinas, R.2    Sasaki, K.3
  • 38
    • 33747060493 scopus 로고    scopus 로고
    • Complex spike activity of purkinje cells in the oculomotor vermis during behavioral adaptation of monkey saccades
    • Soetedjo R, Fuchs AF. Complex spike activity of purkinje cells in the oculomotor vermis during behavioral adaptation of monkey saccades. J Neurosci. 2006;26(29):7741-7755.
    • (2006) J Neurosci , vol.26 , Issue.29 , pp. 7741-7755
    • Soetedjo, R.1    Fuchs, A.F.2
  • 39
    • 0030781110 scopus 로고    scopus 로고
    • Smooth pursuit in 1- to 4-month-old human infants
    • Phillips JO, Finocchio DV, Ong L, Fuchs AF. Smooth pursuit in 1- to 4-month-old human infants. Vision Res. 1997;37(21):3009-3020.
    • (1997) Vision Res , vol.37 , Issue.21 , pp. 3009-3020
    • Phillips, J.O.1    Finocchio, D.V.2    Ong, L.3    Fuchs, A.F.4
  • 40
    • 0022000229 scopus 로고
    • Deficits in visual motion processing following ibotenic acid lesions of the middle temporal visual area of the macaque monkey
    • Newsome WT, Wurtz RH, Dursteler MR, Mikami A. Deficits in visual motion processing following ibotenic acid lesions of the middle temporal visual area of the macaque monkey. J Neurosci. 1985;5(3):825-840.
    • (1985) J Neurosci , vol.5 , Issue.3 , pp. 825-840
    • Newsome, W.T.1    Wurtz, R.H.2    Dursteler, M.R.3    Mikami, A.4
  • 41
    • 0022528778 scopus 로고
    • Different patterns of corticopontine projections from separate cortical fields within the inferior parietal lobule and dorsal prelunate gyrus of the macaque
    • May JG, Andersen RA. Different patterns of corticopontine projections from separate cortical fields within the inferior parietal lobule and dorsal prelunate gyrus of the macaque. Exp Brain Res. 1986;63(2):265-278.
    • (1986) Exp Brain Res , vol.63 , Issue.2 , pp. 265-278
    • May, J.G.1    Andersen, R.A.2
  • 42
    • 0024076937 scopus 로고
    • Pursuit and optokinetic deficits following chemical lesions of cortical areas MT and MST
    • Dursteler MR, Wurtz RH. Pursuit and optokinetic deficits following chemical lesions of cortical areas MT and MST. J Neurophysiol. 1988;60(3):940-965.
    • (1988) J Neurophysiol , vol.60 , Issue.3 , pp. 940-965
    • Dursteler, M.R.1    Wurtz, R.H.2
  • 43
    • 0023935946 scopus 로고
    • Frontal eye field efferents in the macaque monkey: II. Topography of terminal fields in midbrain and pons
    • Stanton GB, Goldberg ME, Bruce CJ. Frontal eye field efferents in the macaque monkey: II. Topography of terminal fields in midbrain and pons. J Comp Neurol. 1988;271(4):493-506.
    • (1988) J Comp Neurol , vol.271 , Issue.4 , pp. 493-506
    • Stanton, G.B.1    Goldberg, M.E.2    Bruce, C.J.3
  • 44
    • 0023772421 scopus 로고
    • Response properties of dorsolateral pontine units during smooth pursuit in the rhesus macaque
    • Mustari MJ, Fuchs AF, Wallman JR. Response properties of dorsolateral pontine units during smooth pursuit in the rhesus macaque. J Neurophysiol. 1988;60(2):664-686.
    • (1988) J Neurophysiol , vol.60 , Issue.2 , pp. 664-686
    • Mustari, M.J.1    Fuchs, A.F.2    Wallman, J.R.3
  • 45
    • 0018086202 scopus 로고
    • Role of primate flocculus during rapid behavioral modification of vestibuloocular reflex. I. Purkinje cell activity during visually guided horizontal smooth-pursuit eye movements and passive head rotation
    • Lisberger SG, Fuchs AF. Role of primate flocculus during rapid behavioral modification of vestibuloocular reflex. I. Purkinje cell activity during visually guided horizontal smooth-pursuit eye movements and passive head rotation. J Neurophysiol. 1978;41(3): 733-763.
    • (1978) J Neurophysiol , vol.41 , Issue.3 , pp. 733-763
    • Lisberger, S.G.1    Fuchs, A.F.2
  • 46
    • 0028148296 scopus 로고
    • Participation of the caudal fastigial nucleus in smooth-pursuit eye movements. I. Neuronal activity
    • Fuchs AF, Robinson FR, Straube A. Participation of the caudal fastigial nucleus in smooth-pursuit eye movements. I. Neuronal activity. J Neurophysiol. 1994;72(6):2714-2728.
    • (1994) J Neurophysiol , vol.72 , Issue.6 , pp. 2714-2728
    • Fuchs, A.F.1    Robinson, F.R.2    Straube, A.3
  • 47
    • 0025292685 scopus 로고
    • Visual responses of Purkinje cells in the cerebellar flocculus during smooth-pursuit eye movements in monkeys. I. Simple spikes
    • Stone LS, Lisberger SG. Visual responses of Purkinje cells in the cerebellar flocculus during smooth-pursuit eye movements in monkeys. I. Simple spikes. J Neurophysiol. 1990;63(5):1241-1261.
    • (1990) J Neurophysiol , vol.63 , Issue.5 , pp. 1241-1261
    • Stone, L.S.1    Lisberger, S.G.2
  • 48
    • 0015844924 scopus 로고
    • Oculomotor defects in cerebellectomized monkeys
    • Westheimer G, Blair SM. Oculomotor defects in cerebellectomized monkeys. Invest Ophthalmol. 1973;12(8):618-621.
    • (1973) Invest Ophthalmol , vol.12 , Issue.8 , pp. 618-621
    • Westheimer, G.1    Blair, S.M.2
  • 49
    • 0030745229 scopus 로고    scopus 로고
    • Participation of caudal fastigial nucleus in smooth pursuit eye movements. II. Effects of muscimol inactivation
    • Robinson FR, Straube A, Fuchs AF. Participation of caudal fastigial nucleus in smooth pursuit eye movements. II. Effects of muscimol inactivation. J Neurophysiol. 1997;78(2):848-859.
    • (1997) J Neurophysiol , vol.78 , Issue.2 , pp. 848-859
    • Robinson, F.R.1    Straube, A.2    Fuchs, A.F.3
  • 50
    • 0034076950 scopus 로고    scopus 로고
    • Effects of lesions of the oculomotor cerebellar vermis on eye movements in primate: Smooth pursuit
    • Takagi M, Zee DS, Tamargo RJ. Effects of lesions of the oculomotor cerebellar vermis on eye movements in primate: smooth pursuit. J Neurophysiol. 2000;83(4):2047-2062.
    • (2000) J Neurophysiol , vol.83 , Issue.4 , pp. 2047-2062
    • Takagi, M.1    Zee, D.S.2    Tamargo, R.J.3
  • 51
    • 0019415558 scopus 로고
    • Effects of ablation of flocculus and paraflocculus of eye movements in primate
    • Zee DS, Yamazaki A, Butler PH, Gucer G. Effects of ablation of flocculus and paraflocculus of eye movements in primate. J Neurophysiol. 1981;46(4):878-899.
    • (1981) J Neurophysiol , vol.46 , Issue.4 , pp. 878-899
    • Zee, D.S.1    Yamazaki, A.2    Butler, P.H.3    Gucer, G.4
  • 52
    • 0023925588 scopus 로고
    • Smooth-pursuit eye movement deficits with chemical lesions in the dorsolateral pontine nucleus of the monkey
    • May JG, Keller EL, Suzuki DA. Smooth-pursuit eye movement deficits with chemical lesions in the dorsolateral pontine nucleus of the monkey. J Neurophysiol. 1988;9(3):952-977.
    • (1988) J Neurophysiol , vol.9 , Issue.3 , pp. 952-977
    • May, J.G.1    Keller, E.L.2    Suzuki, D.A.3
  • 53
    • 0021074599 scopus 로고
    • Postnatal development of optokinetic after nystagmus in human infants
    • Schor CM, Narayan V, Westall C. Postnatal development of optokinetic after nystagmus in human infants. Vision Res. 1983;23(12): 1643-1647.
    • (1983) Vision Res , vol.23 , Issue.12 , pp. 1643-1647
    • Schor, C.M.1    Narayan, V.2    Westall, C.3
  • 54
    • 0024462283 scopus 로고
    • Maturation of the optokinetic nystagmus as a function of the speed of stimulation in fullterm and preterm infants
    • Roy M-S, Lachapelle P, Lepore F. Maturation of the optokinetic nystagmus as a function of the speed of stimulation in fullterm and preterm infants. Clin Vis Sci. 1989;4(4):357-366.
    • (1989) Clin Vis Sci , vol.4 , Issue.4 , pp. 357-366
    • Roy, M.-S.1    Lachapelle, P.2    Lepore, F.3
  • 55
    • 0027342942 scopus 로고
    • The optokinetic response in primates and its possible neuronal substrate
    • Fuchs AF, Mustari MJ. The optokinetic response in primates and its possible neuronal substrate. Rev Oculomot Res. 1993;5:343-369.
    • (1993) Rev Oculomot Res , vol.5 , pp. 343-369
    • Fuchs, A.F.1    Mustari, M.J.2
  • 56
    • 0028079996 scopus 로고
    • Anatomical connections of the primate pretectal nucleus of the optic tract
    • Mustari MJ, Fuchs F, Kaneko CR, Robinson FR. Anatomical connections of the primate pretectal nucleus of the optic tract. J Comp Neurol. 1994;349(1):111-128.
    • (1994) J Comp Neurol , vol.349 , Issue.1 , pp. 111-128
    • Mustari, M.J.1    Fuchs, F.2    Kaneko, C.R.3    Robinson, F.R.4
  • 57
    • 0029953238 scopus 로고    scopus 로고
    • The function of the cerebellar uvula in monkey during optokinetic and pursuit eye movements: Singleunit responses and lesion effects
    • Heinen SJ, Keller EL. The function of the cerebellar uvula in monkey during optokinetic and pursuit eye movements: singleunit responses and lesion effects. Exp Brain Res. 1996;110(1):1-14.
    • (1996) Exp Brain Res , vol.110 , Issue.1 , pp. 1-14
    • Heinen, S.J.1    Keller, E.L.2
  • 58
    • 0033064796 scopus 로고    scopus 로고
    • Eye movement deficits following ibotenic acid lesions of the nucleus prepositus hypoglossi in monkeys II. Pursuit, vestibular, and optokinetic responses
    • Kaneko CR. Eye movement deficits following ibotenic acid lesions of the nucleus prepositus hypoglossi in monkeys II. Pursuit, vestibular, and optokinetic responses. J Neurophysiol. 1999;81(2): 668-681.
    • (1999) J Neurophysiol , vol.81 , Issue.2 , pp. 668-681
    • Kaneko, C.R.1
  • 59
    • 33748872710 scopus 로고    scopus 로고
    • Brainstem and cerebellar fMRI-activation during horizontal and vertical optokinetic stimulation
    • Bense S, Janusch B, Vucurevic G, Bauermann T, et al. Brainstem and cerebellar fMRI-activation during horizontal and vertical optokinetic stimulation. Brain Res. 2006;174(2):312-323.
    • (2006) Brain Res , vol.174 , Issue.2 , pp. 312-323
    • Bense, S.1    Janusch, B.2    Vucurevic, G.3    Bauermann, T.4
  • 60
    • 0018086202 scopus 로고
    • Role of primate flocculus during rapid behavioral modification of vestibuloocular reflex. I. Purkinje cell activity during visually guided horizontal smooth-pursuit eye movements and passive head rotation
    • Lisberger SG, Fuchs AF. Role of primate flocculus during rapid behavioral modification of vestibuloocular reflex. I. Purkinje cell activity during visually guided horizontal smooth-pursuit eye movements and passive head rotation. J Neurophysiol. 1978;41: 733-763.
    • (1978) J Neurophysiol , vol.41 , pp. 733-763
    • Lisberger, S.G.1    Fuchs, A.F.2
  • 61
    • 0027989947 scopus 로고
    • Responses during eye movements of brain stem neurons that receive monosynaptic inhibition from the flocculus and ventral paraflocculus in monkeys
    • Lisberger SG, Pavelko AT, Broussard DM. Responses during eye movements of brain stem neurons that receive monosynaptic inhibition from the flocculus and ventral paraflocculus in monkeys. J Neurophysiol.1994;72:909-927.
    • (1994) J Neurophysiol , vol.72 , pp. 909-927
    • Lisberger, S.G.1    Pavelko, A.T.2    Broussard, D.M.3
  • 62
    • 4444311117 scopus 로고    scopus 로고
    • Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
    • (published correction in Nat Genet. 2004; 36(10):1126)
    • Ferland RJ, Eyaid W, Collura RV, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome (published correction in Nat Genet. 2004; 36(10):1126) Nat Genet. 2004;36(9):1008-1013.
    • (2004) Nat Genet , vol.36 , Issue.9 , pp. 1008-1013
    • Ferland, R.J.1    Eyaid, W.2    Collura, R.V.3
  • 63
    • 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, et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet. 2004;75(6):979-987.
    • (2004) Am J Hum Genet , vol.75 , Issue.6 , pp. 979-987
    • Dixon-Salazar, T.1    Silhavy, J.L.2    Marsh, S.E.3
  • 64
    • 33645774086 scopus 로고    scopus 로고
    • AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome
    • Parisi MA, Doherty D, Eckert ML, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet. 2006;43(4):334-339.
    • (2006) J Med Genet , vol.43 , Issue.4 , pp. 334-339
    • Parisi, M.A.1    Doherty, D.2    Eckert, M.L.3
  • 65
    • 33745230448 scopus 로고    scopus 로고
    • The centrosomal protein nephrocystin-6 is mutated in syndrome and activates transcription factor ATF4
    • Sayer JA, Otto EA, O'Toole JF, et al. The centrosomal protein nephrocystin-6 is mutated in syndrome and activates transcription factor ATF4. Nat Genet. 2006;38(6):674-681.
    • (2006) Nat Genet , vol.38 , Issue.6 , pp. 674-681
    • Sayer, J.A.1    Otto, E.A.2    O'Toole, J.F.3
  • 66
    • 33846076617 scopus 로고    scopus 로고
    • The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
    • Baala L, Romano S, Khaddour R, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 2007;80(1):186-194.
    • (2007) Am J Hum Genet , vol.80 , Issue.1 , pp. 186-194
    • Baala, L.1    Romano, S.2    Khaddour, R.3
  • 67
    • 34347324031 scopus 로고    scopus 로고
    • The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
    • Delous M, Baala L, Salomon R, Laclef C, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007;39(7): 875-881.
    • (2007) Nat Genet , vol.39 , Issue.7 , pp. 875-881
    • Delous, M.1    Baala, L.2    Salomon, R.3    Laclef, C.4
  • 68
    • 34347356500 scopus 로고    scopus 로고
    • Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
    • Arts HH, Doherty D, van Beersum SE, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet. 2007;39(7):882-888.
    • (2007) Nat Genet , vol.39 , Issue.7 , pp. 882-888
    • Arts, H.H.1    Doherty, D.2    van Beersum, S.E.3
  • 69
    • 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(5):559-571.
    • (2008) Am J Hum Genet , vol.83 , Issue.5 , pp. 559-571
    • Gorden, N.T.1    Arts, H.H.2    Parisi, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.