-
1
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol. 1993;61:1-14.
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
2
-
-
0033760073
-
Spinocerebellar ataxias
-
Zoghbi HY. Spinocerebellar ataxias. Neurobiol Dis. 2000;7(5):523-527.
-
(2000)
Neurobiol Dis
, vol.7
, Issue.5
, pp. 523-527
-
-
Zoghbi, H.Y.1
-
3
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
DOI 10.1093/brain/awl081
-
Matilla-Dueñas A, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006;129(pt 6):1357-1370. (Pubitemid 43999370)
-
(2006)
Brain
, vol.129
, Issue.6
, pp. 1357-1370
-
-
Duenas, A.M.1
Goold, R.2
Giunti, P.3
-
4
-
-
77955636420
-
Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond
-
Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010;9(9):885-894.
-
(2010)
Lancet Neurol
, vol.9
, Issue.9
, pp. 885-894
-
-
Durr, A.1
-
5
-
-
79960790152
-
Update on degenerative ataxias
-
Klockgether T. Update on degenerative ataxias. Curr Opin Neurol. 2011;24(4):339-345.
-
(2011)
Curr Opin Neurol
, vol.24
, Issue.4
, pp. 339-345
-
-
Klockgether, T.1
-
6
-
-
84870464151
-
The ever expanding spinocerebellar ataxias
-
Matilla-Dueñas A. The ever expanding spinocerebellar ataxias. Cerebellum. 2012;11(4):821-827.
-
(2012)
Cerebellum
, vol.11
, Issue.4
, pp. 821-827
-
-
Matilla-Dueñas, A.1
-
7
-
-
84864713198
-
Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3)
-
Scherzed W, Brunt ER, Heinsen H, et al. Pathoanatomy of cerebellar degeneration in spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3). Cerebellum. 2012;11(3):749-760.
-
(2012)
Cerebellum
, vol.11
, Issue.3
, pp. 749-760
-
-
Scherzed, W.1
Brunt, E.R.2
Heinsen, H.3
-
8
-
-
79961145156
-
Neuropathology of degenerative ataxias
-
Fratkin JD, Vig PJ. Neuropathology of degenerative ataxias. Handb Clin Neurol. 2012;103:111-125.
-
(2012)
Handb Clin Neurol
, vol.103
, pp. 111-125
-
-
Fratkin, J.D.1
Vig, P.J.2
-
9
-
-
84864683551
-
Ataxia rating scales - Psychometric profiles, natural history and their application in clinical trials
-
Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group
-
Saute JA, Donis KC, Serrano-Munuera C, et al Iberoamerican Multidisciplinary Network for the Study of Movement Disorders (RIBERMOV) Study Group. Ataxia rating scales - psychometric profiles, natural history and their application in clinical trials. Cerebellum. 2012;11(2):488-504.
-
(2012)
Cerebellum
, vol.11
, Issue.2
, pp. 488-504
-
-
Saute, J.A.1
Donis, K.C.2
Serrano-Munuera, C.3
-
10
-
-
33745677486
-
Scale for the assessment and rating of ataxia: Development of a new clinical scale
-
DOI 10.1212/01.wnl.0000219042.60538.92, PII 0000611420060613000022
-
Schmitz-Hübsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale [published correction appears in Neurology. 2006;67(2):299]. Neurology. 2006;66(11):1717-1720. (Pubitemid 43964628)
-
(2006)
Neurology
, vol.66
, Issue.11
, pp. 1717-1720
-
-
Schmitz-Hubsch, T.1
Du, M.S.T.2
Baliko, L.3
Berciano, J.4
Boesch, S.5
Depondt, C.6
Giunti, P.7
Globas, C.8
Infante, J.9
Kang, J.-S.10
Kremer, B.11
Mariotti, C.12
Melegh, B.13
Pandolfo, M.14
Rakowicz, M.15
Ribai, P.16
Rola, R.17
Schols, L.18
Szymanski, S.19
Van De, W.B.P.20
Durr, A.21
Klockgether, T.22
more..
-
11
-
-
77649103303
-
Responsiveness of different rating instruments in spinocerebellar ataxia patients
-
Schmitz-Hübsch T, Fimmers R, Rakowicz M, et al. Responsiveness of different rating instruments in spinocerebellar ataxia patients. Neurology. 2010;74(8):678-684.
-
(2010)
Neurology
, vol.74
, Issue.8
, pp. 678-684
-
-
Schmitz-Hübsch, T.1
Fimmers, R.2
Rakowicz, M.3
-
12
-
-
79953277710
-
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias
-
Chan E, Charles P, Ribai P, et al. Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias. Mov Disord. 2011;26(3):534-538.
-
(2011)
Mov Disord
, vol.26
, Issue.3
, pp. 534-538
-
-
Chan, E.1
Charles, P.2
Ribai, P.3
-
13
-
-
0027430722
-
Oculomotor abnormalities in motor neuron disease
-
Marti-Fàbregas J, Roig C. Oculomotor abnormalities in motor neuron disease. J Neurol. 1993;240(8):475-478. (Pubitemid 23283735)
-
(1993)
Journal of Neurology
, vol.240
, Issue.8
, pp. 475-478
-
-
Marti-Fabregas, J.1
Roig, C.2
-
14
-
-
0036338150
-
Merlin - Rapid analysis of dense genetic maps using sparse gene flow trees
-
Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin - rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet. 2002;30(1):97-101.
-
(2002)
Nat Genet
, vol.30
, Issue.1
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
16
-
-
0032231877
-
Comprehensive human genetic maps: Individual and sex-specific variation in recombination
-
DOI 10.1086/302011
-
Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet. 1998;63(3):861-869. (Pubitemid 30422687)
-
(1998)
American Journal of Human Genetics
, vol.63
, Issue.3
, pp. 861-869
-
-
Broman, K.W.1
Murray, J.C.2
Sheffield, V.C.3
White, R.L.4
Weber, J.L.5
-
17
-
-
18544381909
-
A high-resolution recombination map of the human genome
-
Kong A, Gudbjartsson DF, Sainz J, et al. A high-resolution recombination map of the human genome. Nat Genet. 2002;31(3):241-247.
-
(2002)
Nat Genet
, vol.31
, Issue.3
, pp. 241-247
-
-
Kong, A.1
Gudbjartsson, D.F.2
Sainz, J.3
-
18
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
DOI 10.1038/380152a0
-
Dib C, Fauré S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996;380(6570):152-154. (Pubitemid 26085878)
-
(1996)
Nature
, vol.380
, Issue.6570
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
19
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42(1):30-35.
-
(2010)
Nat Genet
, vol.42
, Issue.1
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
-
20
-
-
0032835166
-
Autosomal dominant cerebellar ataxia type I: Oculomotor abnormalities in families with SCA1, SCA2, and SCA3
-
DOI 10.1007/s004150050456
-
Bürk K, Fetter M, Abele M, et al. Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol. 1999;246(9):789-797. (Pubitemid 29467154)
-
(1999)
Journal of Neurology
, vol.246
, Issue.9
, pp. 789-797
-
-
Burk, K.1
Fetter, M.2
Abele, M.3
Laccone, F.4
Brice, A.5
Dichgans, J.6
Klockgether, T.7
-
21
-
-
79952142034
-
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias
-
Federighi P, Cevenini G, Dotti MT, et al. Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. Brain. 2011;134(Pt 3):879-891.
-
(2011)
Brain
, vol.134
, Issue.PART 3
, pp. 879-891
-
-
Federighi, P.1
Cevenini, G.2
Dotti, M.T.3
-
22
-
-
0034705210
-
A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia
-
Nagaoka U, Takashima M, Ishikawa K, et al. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology. 2000;54(10):1971-1975. (Pubitemid 30327122)
-
(2000)
Neurology
, vol.54
, Issue.10
, pp. 1971-1975
-
-
Nagaoka, U.1
Takashima, M.2
Ishikawa, K.3
Yoshizawa, K.4
Yoshizawa, T.5
Ishikawa, M.6
Yamawaki, T.7
Shoji, S.8
Mizusawa, H.9
-
23
-
-
0842347338
-
Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred
-
Bürk K, Zühlke C, König IR, et al. Spinocerebellar ataxia type 5: clinical and molecular genetic features of a German kindred. Neurology. 2004;62(2):327-329. (Pubitemid 38167154)
-
(2004)
Neurology
, vol.62
, Issue.2
, pp. 327-329
-
-
Burk, K.1
Zuhlke, C.2
Konig, I.R.3
Ziegler, A.4
Schwinger, E.5
Globas, C.6
Dichgans, J.7
Hellenbroich, Y.8
-
24
-
-
0031454530
-
Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
-
DOI 10.1002/ana.410420616
-
Gomez CM, Thompson RM, Gammack JT, et al. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997;42(6):933-950. (Pubitemid 28008425)
-
(1997)
Annals of Neurology
, vol.42
, Issue.6
, pp. 933-950
-
-
Gomez, C.M.1
Thompson, R.M.2
Gammack, J.T.3
Perlman, S.L.4
Dobyns, W.B.5
Truwit, C.L.6
Zee, D.S.7
Clark, H.B.8
Anderson, J.H.9
-
25
-
-
42249095826
-
Impaired eye movements in presymptomatic spinocerebellar ataxia type 6
-
DOI 10.1001/archneur.65.4.530
-
Christova P, Anderson JH, Gomez CM. Impaired eye movements in presymptomatic spinocerebellar ataxia type 6. Arch Neurol. 2008;65(4):530-536. (Pubitemid 351549964)
-
(2008)
Archives of Neurology
, vol.65
, Issue.4
, pp. 530-536
-
-
Christova, P.1
Anderson, J.H.2
Gomez, C.M.3
-
26
-
-
0034992392
-
Slowing of voluntary and involuntary saccades: An early sign in spinocerebellar ataxia type 7
-
DOI 10.1002/ana.1059
-
Oh AK, Jacobson KM, Jen JC, Baloh RW. Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. Ann Neurol. 2001;49(6):801-804. (Pubitemid 32530249)
-
(2001)
Annals of Neurology
, vol.49
, Issue.6
, pp. 801-804
-
-
Oh, A.K.1
Jacobson, K.M.2
Jen, J.C.3
Baloh, R.W.4
-
27
-
-
0033816249
-
Spinocerebellar ataxia type 8: Clinical features in a large family
-
Day JW, Schut LJ, Moseley ML, Durand AC, Ranum LP. Spinocerebellar ataxia type 8: clinical features in a large family. Neurology. 2000;55(5):649-657.
-
(2000)
Neurology
, vol.55
, Issue.5
, pp. 649-657
-
-
Day, J.W.1
Schut, L.J.2
Moseley, M.L.3
Durand, A.C.4
Ranum, L.P.5
-
28
-
-
34948839850
-
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17)
-
DOI 10.1212/01.wnl.0000276958.91986.89, PII 0000611420070911000014
-
Hübner J, Sprenger A, Klein C, et al. Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). Neurology. 2007;69(11):1160-1168. (Pubitemid 47517562)
-
(2007)
Neurology
, vol.69
, Issue.11
, pp. 1160-1168
-
-
Hubner, J.1
Sprenger, A.2
Klein, C.3
Hagenah, J.4
Rambold, H.5
Zuhlke, C.6
Kompf, D.7
Rolfs, A.8
Kimmig, H.9
Helmchen, C.10
-
29
-
-
0031018491
-
Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1
-
DOI 10.1007/s004150050058
-
Klostermann W, Zühlke C, Heide W, Kömpf D, Wessel K. Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1. J Neurol. 1997;244(2):105-111. (Pubitemid 27057956)
-
(1997)
Journal of Neurology
, vol.244
, Issue.2
, pp. 105-111
-
-
Klostermann, W.1
Zuhlke, C.2
Heide, W.3
Kompf, D.4
Wessel, K.5
-
30
-
-
64749099376
-
A new dominantly inherited pure cerebellar ataxia, SCA 30
-
Storey E, Bahlo M, Fahey M, Sisson O, Lueck CJ, Gardner RJ. A new dominantly inherited pure cerebellar ataxia, SCA 30. J Neurol Neurosurg Psychiatry. 2009;80(4):408-411.
-
(2009)
J Neurol Neurosurg Psychiatry
, vol.80
, Issue.4
, pp. 408-411
-
-
Storey, E.1
Bahlo, M.2
Fahey, M.3
Sisson, O.4
Lueck, C.J.5
Gardner, R.J.6
-
31
-
-
14844297397
-
Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6
-
DOI 10.1002/ana.20371
-
Yu GY, Howell MJ, Roller MJ, Xie TD, Gomez CM. Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann Neurol. 2005;57(3):349-354. (Pubitemid 40343956)
-
(2005)
Annals of Neurology
, vol.57
, Issue.3
, pp. 349-354
-
-
Yu, G.-Y.1
Howell, M.J.2
Roller, M.J.3
Xie, T.-D.4
Gomez, C.M.5
-
32
-
-
0031865677
-
Oculomotor testing in the differential diagnosis of degenerative ataxic disorders
-
DOI 10.1001/archneur.55.7.949
-
Wessel K, Moschner C, Wandinger KP, Kömpf D, Heide W. Oculomotor testing in the differential diagnosis of degenerative ataxic disorders. Arch Neurol. 1998;55(7):949-956. (Pubitemid 28335113)
-
(1998)
Archives of Neurology
, vol.55
, Issue.7
, pp. 949-956
-
-
Wessel, K.1
Moschner, C.2
Wandinger, K.-P.3
Kompf, D.4
Heide, W.5
-
33
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
DOI 10.1002/ana.10676
-
Rolfs A, Koeppen AH, Bauer I, et al. Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol. 2003;54(3):367-375. (Pubitemid 37072039)
-
(2003)
Annals of Neurology
, vol.54
, Issue.3
, pp. 367-375
-
-
Rolfs, A.1
Koeppen, A.H.2
Bauer, I.3
Bauer, P.4
Buhlmann, S.5
Topka, H.6
Schols, L.7
Riess, O.8
-
34
-
-
0020317159
-
The primate oculomotor system. II. Premotor system. A synthesis of anatomical, physiological, and clinical data
-
Henn V, Hepp K, Büttner-Ennever JA. The primate oculomotor system: II, premotor system: a synthesis of anatomical, physiological, and clinical data. Hum Neurobiol. 1982;1(2):87-95. (Pubitemid 12053291)
-
(1982)
Human Neurobiology
, vol.1
, Issue.2
, pp. 87-95
-
-
Henn, V.1
Buttner-Ennever, J.A.2
Hepp, K.3
-
35
-
-
0022634317
-
Eye movement abnormalities in a family with cerebellar vermian atrophy
-
Furman JM, Baloh RW, Yee RD. Eye movement abnormalities in a family with cerebellar vermian atrophy. Acta Otolaryngol. 1986;101(5-6):371-377. (Pubitemid 16117335)
-
(1986)
Acta Oto-Laryngologica
, vol.101
, Issue.5-6
, pp. 371-377
-
-
Furman, J.M.R.1
Baloh, R.W.2
Yee, R.D.3
-
36
-
-
0032769946
-
Vertical Purkinje cells of the monkey floccular lobe: Simple-spike activity during pursuit and passive whole body rotation
-
Fukushima K, Fukushima J, Kaneko CR, Fuchs AF. Vertical Purkinje cells of the monkey floccular lobe: simple-spike activity during pursuit and passive whole body rotation. J Neurophysiol. 1999;82(2):787-803. (Pubitemid 29387854)
-
(1999)
Journal of Neurophysiology
, vol.82
, Issue.2
, pp. 787-803
-
-
Fukushima, K.1
Fukushima, J.2
Kaneko, C.R.S.3
Fuchs, A.F.4
-
37
-
-
0036820509
-
Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
-
DOI 10.1007/s00439-002-0782-7
-
Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ. Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum Genet. 2002;111(4-5):388-393. (Pubitemid 36075065)
-
(2002)
Human Genetics
, vol.111
, Issue.4-5
, pp. 388-393
-
-
Verbreek, D.S.1
Schelhaas, J.H.2
Ippel, E.F.3
Beemer, F.A.4
Pearson, P.L.5
Sinke, R.J.6
-
38
-
-
0037677603
-
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
-
Chung MY, Lu YC, Cheng NC, Soong BW. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain. 2003;126(Pt 6):1293-1299.
-
(2003)
Brain
, vol.126
, Issue.PART 6
, pp. 1293-1299
-
-
Chung, M.Y.1
Lu, Y.C.2
Cheng, N.C.3
Soong, B.W.4
-
39
-
-
84871998158
-
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19
-
Duarri A, Jezierska J, Fokkens M, et al. Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19. Ann Neurol. 2012;72(6):870-880.
-
(2012)
Ann Neurol
, vol.72
, Issue.6
, pp. 870-880
-
-
Duarri, A.1
Jezierska, J.2
Fokkens, M.3
-
40
-
-
84871989725
-
Mutations in KCND3 cause spinocerebellar ataxia type 22
-
Lee YC, Durr A, Majczenko K, et al. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann Neurol. 2012;72(6):859-869.
-
(2012)
Ann Neurol
, vol.72
, Issue.6
, pp. 859-869
-
-
Lee, Y.C.1
Durr, A.2
Majczenko, K.3
|