-
1
-
-
80053206255
-
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): A review of the clinical features and video-oculographic diagnosis
-
Szmulewicz DJ, Waterston JA, MacDougall HG, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann NY Acad Sci 2011; 1233: 139-147.
-
(2011)
Ann NY Acad Sci
, vol.1233
, pp. 139-147
-
-
Szmulewicz, D.J.1
Waterston, J.A.2
MacDougall, H.G.3
-
2
-
-
79958124645
-
Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome
-
Szmulewicz DJ, Waterston JA, Halmagyi GM, et al. Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology 2011; 76: 1903-1910.
-
(2011)
Neurology
, vol.76
, pp. 1903-1910
-
-
Szmulewicz, D.J.1
Waterston, J.A.2
Halmagyi, G.M.3
-
3
-
-
80052963744
-
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: A histopathologic case report
-
Szmulewicz DJ, Merchant SN, Halmagyi GM. Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome: a histopathologic case report. Otol Neurotol 2011; 32: e63-e65.
-
(2011)
Otol Neurotol
, vol.32
-
-
Szmulewicz, D.J.1
Merchant, S.N.2
Halmagyi, G.M.3
-
4
-
-
0742305833
-
Cerebellar ataxia with bilateral vestibulopathy: Description of a syndrome and its characteristic clinical sign
-
DOI 10.1093/brain/awh030
-
Migliaccio A, Halmagyi G, Mcgarvie L, Cremer P. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain 2004; 127: 280-293. (Pubitemid 38160313)
-
(2004)
Brain
, vol.127
, Issue.2
, pp. 280-293
-
-
Migliaccio, A.A.1
Halmagyi, G.M.2
McGarvie, L.A.3
Cremer, P.D.4
-
5
-
-
71449093193
-
The dorsal root ganglion in friedreich's ataxia
-
Koeppen AH, Morral JA, Davis AN, et al. The dorsal root ganglion in Friedreich's ataxia. Acta Neuropathol 2009; 118: 763-776.
-
(2009)
Acta Neuropathol
, vol.118
, pp. 763-776
-
-
Koeppen, A.H.1
Morral, J.A.2
Davis, A.N.3
-
6
-
-
79952814526
-
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
-
Koeppen AH. Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 2011; 303: 1-12.
-
(2011)
J Neurol Sci
, vol.303
, pp. 1-12
-
-
Koeppen, A.H.1
-
7
-
-
41849138247
-
Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia
-
DOI 10.1093/brain/awm323
-
Fahey MC, Cremer PD, Aw ST, et al. Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia. Brain 2008; 131(pt 4): 1035-1045. (Pubitemid 351499415)
-
(2008)
Brain
, vol.131
, Issue.4
, pp. 1035-1045
-
-
Fahey, M.C.1
Cremer, P.D.2
Aw, S.T.3
Millist, L.4
Todd, M.J.5
White, O.B.6
Halmagyi, M.7
Corben, L.A.8
Collins, V.9
Churchyard, A.J.10
Tan, K.11
Kowal, L.12
Delatycki, M.B.13
-
9
-
-
0026740864
-
Plastic properties of the vestibulo-ocular reflex in olivo-ponto- cerebellar atrophy
-
Suarez H, Rosales B, Claussen CF. Plastic properties of the vestibulo-ocular reflex in olivo-ponto-cerebellar atrophy. Acta Otolaryngol 1992; 112: 589-594.
-
(1992)
Acta Otolaryngol
, vol.112
, pp. 589-594
-
-
Suarez, H.1
Rosales, B.2
Claussen, C.F.3
-
10
-
-
49249115030
-
Oculomotor function in multiple system atrophy: Clinical and laboratory features in 30 patients
-
Anderson T, Luxon L, Quinn N, Daniel S, Marsden CD, Bronstein A. Oculomotor function in multiple system atrophy: clinical and laboratory features in 30 patients. Mov Disord 2008; 23: 977-984.
-
(2008)
Mov Disord
, vol.23
, pp. 977-984
-
-
Anderson, T.1
Luxon, L.2
Quinn, N.3
Daniel, S.4
Marsden, C.D.5
Bronstein, A.6
-
11
-
-
0027347995
-
Vestibulo-ocular reflex in parkinson's disease and multiple system atrophy
-
Rascol OJ, Clanet M, Senard JM, Montastruc JL, Rascol A. Vestibulo-ocular reflex in Parkinson's disease and multiple system atrophy. Adv Neurol 1993; 60: 395-397.
-
(1993)
Adv Neurol
, vol.60
, pp. 395-397
-
-
Rascol, O.J.1
Clanet, M.2
Senard, J.M.3
Montastruc, J.L.4
Rascol, A.5
-
12
-
-
0029792130
-
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
-
Flanigan K, Gardner K, Alderson K, et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 1996; 59: 392-399. (Pubitemid 26266355)
-
(1996)
American Journal of Human Genetics
, vol.59
, Issue.2
, pp. 392-399
-
-
Flanigan, K.1
Gardner, K.2
Alderson, K.3
Galster, B.4
Otterud, B.5
Leppert, M.F.6
Kaplan, C.7
Ptacek, L.J.8
-
13
-
-
9144256120
-
Spinocerebellar Ataxia with Sensory Neuropathy (SCA25) Maps to Chromosome 2p
-
DOI 10.1002/ana.10798
-
Stevanin G, Bouslam N, Thobois S, et al. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann Neurol 2004; 55: 97-104. (Pubitemid 38067366)
-
(2004)
Annals of Neurology
, vol.55
, Issue.1
, pp. 97-104
-
-
Stevanin, G.1
Bouslam, N.2
Thobois, S.3
Azzedine, H.4
Ravaux, L.5
Boland, A.6
Schalling, M.7
Broussolle, E.8
Durr, A.9
Brice, A.10
-
15
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
DOI 10.1038/7710
-
Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 1999; 21: 379-384. (Pubitemid 29159573)
-
(1999)
Nature Genetics
, vol.21
, Issue.4
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
Benzow, K.A.4
Bird, T.D.5
Day, J.W.6
Ranum, L.P.W.7
-
16
-
-
12744261497
-
Mutation analysis in the fibroblast growth factor 14 gene: Frameshift mutation and polymorphisms in patients with inherited ataxias
-
Dalski A, Atici J, Kreuz FR, et al. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet 2005; 13: 118-120.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 118-120
-
-
Dalski, A.1
Atici, J.2
Kreuz, F.R.3
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