-
1
-
-
0034193764
-
X-linked congenital ataxia: A clinical and genetic study
-
Bertini E, des Portes V, Zanni G, et al. (2000) X-linked congenital ataxia: a clinical and genetic study. Am J Med Genet 92:53-56
-
(2000)
Am J Med Genet
, vol.92
, pp. 53-56
-
-
Bertini, E.1
Des Portes, V.2
Zanni, G.3
-
2
-
-
0242361309
-
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse
-
Bomar JM, Benke PJ, Slattery E, et al. (2003) Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nature Genet 35:264-269
-
(2003)
Nature Genet
, vol.35
, pp. 264-269
-
-
Bomar, J.M.1
Benke, P.J.2
Slattery, E.3
-
4
-
-
0031710988
-
Unstable mutations and neurodegenerative disorders
-
Brice A (1998) Unstable mutations and neurodegenerative disorders. J Neurol 245:505-510
-
(1998)
J Neurol
, vol.245
, pp. 505-510
-
-
Brice, A.1
-
5
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
-
Browne DL, Gancher ST, Nutt JG, et al. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nature Genet 8:136-140
-
(1994)
Nature Genet
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
-
6
-
-
0036846189
-
Fragile X permutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunctions
-
Brunberg JA, Jacquemont S, Hagerman RJ, et al. (2002) Fragile X permutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunctions. AM J Neuroradiol 23:1760-1771
-
(2002)
AM J Neuroradiol
, vol.23
, pp. 1760-1771
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
-
7
-
-
2442464954
-
Molecular genetics of hereditary ataxia
-
Brusco A, Gellera C, Cagnoli C, et al. (2004) Molecular genetics of hereditary ataxia. Arch Neurol 61:727-733
-
(2004)
Arch Neurol
, vol.61
, pp. 727-733
-
-
Brusco, A.1
Gellera, C.2
Cagnoli, C.3
-
8
-
-
19944425949
-
FMR1 gene premutation is a frequent cause of late onset sporadic cerebellar ataxia
-
Brussino A, Gellera C, Saluto A, et al. (2005) FMR1 gene premutation is a frequent cause of late onset sporadic cerebellar ataxia. Neurology 64:145-147
-
(2005)
Neurology
, vol.64
, pp. 145-147
-
-
Brussino, A.1
Gellera, C.2
Saluto, A.3
-
9
-
-
0242607883
-
The hereditary adult-onset ataxias in South Africa
-
Bryer A, Krause A, Bill P, et al. (2003) The hereditary adult-onset ataxias in South Africa. J Neurol Sci 216:47-54
-
(2003)
J Neurol Sci
, vol.216
, pp. 47-54
-
-
Bryer, A.1
Krause, A.2
Bill, P.3
-
10
-
-
0032835166
-
Autosomal dominant cerebellar ataxia type I: Oculomotor abnormalities in families with SCA1, SCA2, and SCA3
-
Bürk K, Fetter M, Abele M, et al. (1999) Autosomal dominant cerebellar ataxia type I: oculomotor abnormalities in families with SCA1, SCA2, and SCA3. J Neurol 246:789-797
-
(1999)
J Neurol
, vol.246
, pp. 789-797
-
-
Bürk, K.1
Fetter, M.2
Abele, M.3
-
11
-
-
0035073180
-
Gluten sensitivity in sporadic and hereditary cerebellar ataxia
-
Bushara KO, Goebel SU, Shill H, Goldfarb LG, Hallett M (2001) Gluten sensitivity in sporadic and hereditary cerebellar ataxia. Ann Neurol 49:540-543
-
(2001)
Ann Neurol
, vol.49
, pp. 540-543
-
-
Bushara, K.O.1
Goebel, S.U.2
Shill, H.3
Goldfarb, L.G.4
Hallett, M.5
-
12
-
-
0031661913
-
Oculomotor phenotypes in autosomal dominant ataxias
-
Buttner N, Geschwind D, Jen J, et al. (1998) Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol 55:1353-1357
-
(1998)
Arch Neurol
, vol.55
, pp. 1353-1357
-
-
Buttner, N.1
Geschwind, D.2
Jen, J.3
-
13
-
-
13344270899
-
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
-
Campuzano V, Montermini L, Moltò MD, et al. (1996) Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion. Science 271:1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
-
14
-
-
0031889483
-
Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
-
Cavalier L, Ouahchi K, Kayden HJ, et al. (1998) Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 62:301-310
-
(1998)
Am J Hum Genet
, vol.62
, pp. 301-310
-
-
Cavalier, L.1
Ouahchi, K.2
Kayden, H.J.3
-
15
-
-
0037371088
-
Mechanisms underlying cerebellar motor deficits due to mGluR1-autoantibodies
-
Coesmans M, Sillevis Smitt PA, Linden DJ, et al. (2002) Mechanisms underlying cerebellar motor deficits due to mGluR1-autoantibodies. Ann Neurol 53:325-336
-
(2002)
Ann Neurol
, vol.53
, pp. 325-336
-
-
Coesmans, M.1
Sillevis Smitt, P.A.2
Linden, D.J.3
-
16
-
-
0000379483
-
A type of congenital ocular motor apraxia presenting jerky head movements
-
Cogan D (1953) A type of congenital ocular motor apraxia presenting jerky head movements. Am J Ophthalmol 36:433-441
-
(1953)
Am J Ophthalmol
, vol.36
, pp. 433-441
-
-
Cogan, D.1
-
17
-
-
4344675214
-
A pathogenetic classification of hereditary ataxias: Is the time ripe?
-
De Michele G, Coppola G, Cocozza S, Filla A (2004) A pathogenetic classification of hereditary ataxias: Is the time ripe? J Neurol 251:913-922
-
(2004)
J Neurol
, vol.251
, pp. 913-922
-
-
De Michele, G.1
Coppola, G.2
Cocozza, S.3
Filla, A.4
-
18
-
-
0035178023
-
The complex clinical and genetic classification of inherited ataxias. II Autosomal recessive ataxias
-
Di Donato S, Gellera C, Mariotti C (2001) The complex clinical and genetic classification of inherited ataxias. II Autosomal recessive ataxias. Neurol Sci 22:219-228
-
(2001)
Neurol Sci
, vol.22
, pp. 219-228
-
-
Di Donato, S.1
Gellera, C.2
Mariotti, C.3
-
19
-
-
0343384355
-
ARSACS, a spastic ataxia common in northeastern Canada, is caused by mutations in a new gene encoding an 11.5-kb ORF
-
Engert JC, Berubè P, Mercier J, et al. (2000) ARSACS, a spastic ataxia common in northeastern Canada, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24:120-125
-
(2000)
Nat Genet
, vol.24
, pp. 120-125
-
-
Engert, J.C.1
Berubè, P.2
Mercier, J.3
-
20
-
-
8144228406
-
Trinucleotide repeats and neurodegenerative disease
-
Everett CM, Wood NW (2004) Trinucleotide repeats and neurodegenerative disease. Brain 127:2385-2405
-
(2004)
Brain
, vol.127
, pp. 2385-2405
-
-
Everett, C.M.1
Wood, N.W.2
-
21
-
-
4444311117
-
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
-
Ferland RJ, Eyaid W, Collura RV, et al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nature Genet 36:1008-1013
-
(2004)
Nature Genet
, vol.36
, pp. 1008-1013
-
-
Ferland, R.J.1
Eyaid, W.2
Collura, R.V.3
-
23
-
-
0030668897
-
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene
-
Gellera C, Pareyson D, Castellotti B, et al. (1997) Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene. Neurology 49:1153-1155
-
(1997)
Neurology
, vol.49
, pp. 1153-1155
-
-
Gellera, C.1
Pareyson, D.2
Castellotti, B.3
-
24
-
-
0035838379
-
Intention tremor, parkinsonism and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, et al. (2001) Intention tremor, parkinsonism and generalized brain atrophy in male carriers of fragile X Neurology 57:127-130
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
-
25
-
-
0020641096
-
Classification of hereditary ataxias and paraplegias
-
Harding AE (1983) Classification of hereditary ataxias and paraplegias. Lancet 1:1151-1155
-
(1983)
Lancet
, vol.1
, pp. 1151-1155
-
-
Harding, A.E.1
-
26
-
-
0027342814
-
Clinical features and classification of inherited ataxias
-
Harding AE (1993) Clinical features and classification of inherited ataxias. Adv Neurol 61:1-14
-
(1993)
Adv Neurol
, vol.61
, pp. 1-14
-
-
Harding, A.E.1
-
27
-
-
0036372896
-
Genetics of episodic ataxia
-
Fahn et al. (eds) Lippincott Williams and Wilkins. Philadelphia
-
Jen JC, Baloh RW (2002) Genetics of episodic ataxia. In: Fahn et al. (eds) Advances in Neurology, Myoclonus and paroxysmal dyskinesias. Vol 89. Lippincott Williams and Wilkins. Philadelphia, pp 459-561
-
(2002)
Advances in Neurology, Myoclonus and Paroxysmal Dyskinesias
, vol.89
, pp. 459-561
-
-
Jen, J.C.1
Baloh, R.W.2
-
28
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
-
Jodice C, Mantuano E, Veneziano L, et al. (1997) Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 6:1973-1978
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
Mantuano, E.2
Veneziano, L.3
-
29
-
-
0031018491
-
Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1
-
Klostermann W, Zühlke C, Heide W, et al. (1997) Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1. J Neurol 244:105-111
-
(1997)
J Neurol
, vol.244
, pp. 105-111
-
-
Klostermann, W.1
Zühlke, C.2
Heide, W.3
-
30
-
-
0021721469
-
The neuropathology of typical Friedreich's ataxia in Quebec
-
Lamarche JB, Lemieux B, Lieu HB (1984) The neuropathology of typical Friedreich's ataxia in Quebec. Can J Neurol Sci 11:592-600
-
(1984)
Can J Neurol Sci
, vol.11
, pp. 592-600
-
-
Lamarche, J.B.1
Lemieux, B.2
Lieu, H.B.3
-
31
-
-
0038119837
-
New autoantibody mediated disorder of the central nervous system
-
Lang B, Dale RC, Vincent A (2003) New autoantibody mediated disorder of the central nervous system. Curr Opin Neurol 16:351-357
-
(2003)
Curr Opin Neurol
, vol.16
, pp. 351-357
-
-
Lang, B.1
Dale, R.C.2
Vincent, A.3
-
32
-
-
11144355513
-
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: A clinical and genetic study in 18 patients
-
Le Ber I, Bouslam N, Rivaud-Péchoux S, et al. (2004) Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain 127:759-767
-
(2004)
Brain
, vol.127
, pp. 759-767
-
-
Le Ber, I.1
Bouslam, N.2
Rivaud-Péchoux, S.3
-
33
-
-
0344875066
-
Cerebellar ataxia with oculomotor apraxia type 1: Clinical and genetic studies
-
Le Ber I, Moreira MC, Rivaud-Péchoux S, et al. (2003) Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain 126:2761-2772
-
(2003)
Brain
, vol.126
, pp. 2761-2772
-
-
Le Ber, I.1
Moreira, M.C.2
Rivaud-Péchoux, S.3
-
34
-
-
0032885176
-
Ocular motor abnormalities in Ataxia telangiectasia
-
Lewis RF, Ledrman HM, Crawford TO (1999) Ocular motor abnormalities in Ataxia telangiectasia. Ann Neurol 46:287-295
-
(1999)
Ann Neurol
, vol.46
, pp. 287-295
-
-
Lewis, R.F.1
Ledrman, H.M.2
Crawford, T.O.3
-
35
-
-
17144467700
-
Phenotypic variability in Friedreich Ataxia: Role of the associated GAA Triplet Repeat Expansion
-
Montermini L, Richter A, Morgan K, et al. (1997) Phenotypic variability in Friedreich Ataxia: role of the associated GAA Triplet Repeat Expansion. Ann Neurol 41:675-682
-
(1997)
Ann Neurol
, vol.41
, pp. 675-682
-
-
Montermini, L.1
Richter, A.2
Morgan, K.3
-
36
-
-
0035125621
-
Homozygosity mapping of Portuguese and Japanese form of ataxia oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
-
Moreira MC, Barbot C, Tachi N, et al. (2001 ) Homozygosity mapping of Portuguese and Japanese form of ataxia oculomotor apraxia to 9p13, and evidence for genetic heterogeneity. Am J Hum Genet 68:501-508
-
(2001)
Am J Hum Genet
, vol.68
, pp. 501-508
-
-
Moreira, M.C.1
Barbot, C.2
Tachi, N.3
-
37
-
-
0029925102
-
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman islands
-
Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield Van C (1996) A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman islands. Hum Mol Genet 5:525-531
-
(1996)
Hum Mol Genet
, vol.5
, pp. 525-531
-
-
Nystuen, A.1
Benke, P.J.2
Merren, J.3
Stone, E.M.4
Van Sheffield, C.5
-
38
-
-
0034992392
-
Slowing of voluntary and involuntary saccades: An early sign in spinocerebellar ataxia type 7
-
Oh AK, Jacobson KM, Jen JC, Baloh RW (2001) Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7. Ann Neurol 49:801-804
-
(2001)
Ann Neurol
, vol.49
, pp. 801-804
-
-
Oh, A.K.1
Jacobson, K.M.2
Jen, J.C.3
Baloh, R.W.4
-
40
-
-
2642708379
-
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I
-
Rivaud-Pechoux S, Durr A, Gaymard B, et al. (1998) Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. Ann Neurol 43:297-302
-
(1998)
Ann Neurol
, vol.43
, pp. 297-302
-
-
Rivaud-Pechoux, S.1
Durr, A.2
Gaymard, B.3
-
41
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291-304
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schöls, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
42
-
-
0037677572
-
Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: Analysis of 50 patients
-
Shams'ili S, Grefkens J, de Leeuw B, et al. (2004) Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients. Brain 126:1409-1418
-
(2004)
Brain
, vol.126
, pp. 1409-1418
-
-
Shams'ili, S.1
Grefkens, J.2
De Leeuw, B.3
-
43
-
-
0037183505
-
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia
-
Shimazaki H, Takiyama Y, Sakoe K, et al. (2002) Early-onset ataxia with ocular motor apraxia and hypoalbuminemia. Neurology 59:590-595
-
(2002)
Neurology
, vol.59
, pp. 590-595
-
-
Shimazaki, H.1
Takiyama, Y.2
Sakoe, K.3
-
44
-
-
0036220140
-
Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG)n allele at the SCA17 locus
-
Silveira I, Miranda C, Guimaraes L, et al. (2002) Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. Arch Neurol 59:623-629
-
(2002)
Arch Neurol
, vol.59
, pp. 623-629
-
-
Silveira, I.1
Miranda, C.2
Guimaraes, L.3
-
45
-
-
1542300940
-
Inter-rater reliability of the International Cooperative Ataxia rating scale (ICARS)
-
Storey E, Tuck K, Hester R, et al. (2004) Inter-rater reliability of the International Cooperative Ataxia rating scale (ICARS). Mov Disord 19:190-212
-
(2004)
Mov Disord
, vol.19
, pp. 190-212
-
-
Storey, E.1
Tuck, K.2
Hester, R.3
-
46
-
-
3543031667
-
Pathways to motor incoordination: The inherited ataxias
-
Taroni F, Di Donato S (2004) Pathways to motor incoordination: the inherited ataxias. Nat Rev Neurosci 5:641-655
-
(2004)
Nat Rev Neurosci
, vol.5
, pp. 641-655
-
-
Taroni, F.1
Di Donato, S.2
-
47
-
-
0030939011
-
International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome
-
Trouillas P, Takayanagi T, Hallet M, et al. (1997) International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome. J Neurol Sci 145:205-211
-
(1997)
J Neurol Sci
, vol.145
, pp. 205-211
-
-
Trouillas, P.1
Takayanagi, T.2
Hallet, M.3
-
48
-
-
0033429466
-
Penicillamine: The treatment of first choice for patients with Wilson's disease
-
Walshe JM (1999) Penicillamine: the treatment of first choice for patients with Wilson's disease. Mov Disord 14:545-550
-
(1999)
Mov Disord
, vol.14
, pp. 545-550
-
-
Walshe, J.M.1
-
50
-
-
19944428639
-
Development and validation of the Unified Multiple System Atrophy rating scale (UMSARS)
-
Wenning GK, Tison F, Seppi K, et al. (2004) Development and validation of the Unified Multiple System Atrophy rating scale (UMSARS). Mov Disord 19:1391-1402
-
(2004)
Mov Disord
, vol.19
, pp. 1391-1402
-
-
Wenning, G.K.1
Tison, F.2
Seppi, K.3
-
51
-
-
1842422835
-
Friedreich's ataxia: Analysis of magnetic resonance imaging parameters and their correlates with cognitive and motor slowing
-
Paris
-
Wollmann T, Nieto-Barco A, Monton-Alvarex F, Barroso-Ribal J (2004) Friedreich's ataxia: analysis of magnetic resonance imaging parameters and their correlates with cognitive and motor slowing. Rev Neurol (Paris) 38:217-222
-
(2004)
Rev Neurol
, vol.38
, pp. 217-222
-
-
Wollmann, T.1
Nieto-Barco, A.2
Monton-Alvarex, F.3
Barroso-Ribal, J.4
-
52
-
-
0017027660
-
Ophthalmoplegia and dissociated nystagmus in abetalipoproteinemia
-
Yee RD, Cogan DG, Zee DS (1976) Ophthalmoplegia and dissociated nystagmus in abetalipoproteinemia. Arch Ophthalmol 94:571-575
-
(1976)
Arch Ophthalmol
, vol.94
, pp. 571-575
-
-
Yee, R.D.1
Cogan, D.G.2
Zee, D.S.3
-
53
-
-
4944260285
-
Mitochondrial disorders
-
Zeviani M, Di Donato S (2004) Mitochondrial disorders. Brain 127:2153-2172
-
(2004)
Brain
, vol.127
, pp. 2153-2172
-
-
Zeviani, M.1
Di Donato, S.2
|