-
1
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
M.D. Koob, M.L. Moseley, L.J. Schut, K.A. Benzow, T.D. Bird, and J.W. Day An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet 21 4 1999 379 384
-
(1999)
Nat Genet
, 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
-
2
-
-
0036918737
-
Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia
-
V. Juvonen, V. Kairisto, M. Hietala, and M.L. Savontaus Calculating predictive values for the large repeat alleles at the SCA8 locus in patients with ataxia J Med Genet 39 12 2002 935 936
-
(2002)
J Med Genet
, vol.39
, Issue.12
, pp. 935-936
-
-
Juvonen, V.1
Kairisto, V.2
Hietala, M.3
Savontaus, M.L.4
-
3
-
-
0037372986
-
SCA8 repeat expansion: Large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6
-
Y. Izumi, H. Maruyama, M. Oda, H. Morino, T. Okada, and H. Ito SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6 Am J Hum Genet 72 3 2003 704 709
-
(2003)
Am J Hum Genet
, vol.72
, Issue.3
, pp. 704-709
-
-
Izumi, Y.1
Maruyama, H.2
Oda, M.3
Morino, H.4
Okada, T.5
Ito, H.6
-
4
-
-
0033840092
-
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion
-
V. Juvonen, M. Hietala, M. Päivärinta, M. Rantamäki, L. Hakamies, and S. Kaakkola Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion Ann Neurol 48 3 2000 354 361
-
(2000)
Ann Neurol
, vol.48
, Issue.3
, pp. 354-361
-
-
Juvonen, V.1
Hietala, M.2
Päivärinta, M.3
Rantamäki, M.4
Hakamies, L.5
Kaakkola, S.6
-
5
-
-
0035833971
-
SCA8 repeat expansions in ataxia: A controversial association
-
M.J. Sobrido, J.A. Cholfin, S. Perlman, S.M. Pulst, and D.H. Geschwind SCA8 repeat expansions in ataxia: a controversial association Neurology 57 7 2001 1310 1312
-
(2001)
Neurology
, vol.57
, Issue.7
, pp. 1310-1312
-
-
Sobrido, M.J.1
Cholfin, J.A.2
Perlman, S.3
Pulst, S.M.4
Geschwind, D.H.5
-
6
-
-
0033816249
-
Spinocerebellar ataxia type 8: Clinical features in a large family
-
J.W. Day, L.J. Schut, M.L. Moseley, A.C. Durand, and L.P. Ranum Spinocerebellar ataxia type 8: clinical features in a large family Neurology 55 5 2000 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
-
7
-
-
0034700999
-
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan
-
Y. Ikeda, M. Shizuka, M. Watanabe, K. Okamoto, and M. Shoji Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan Neurology 54 4 2000 950 955
-
(2000)
Neurology
, vol.54
, Issue.4
, pp. 950-955
-
-
Ikeda, Y.1
Shizuka, M.2
Watanabe, M.3
Okamoto, K.4
Shoji, M.5
-
8
-
-
1542407290
-
Spinocerebellar ataxia type 8 in Scotland: Genetic and clinical features in seven unrelated cases and a review of published reports
-
A. Zeman, J. Stone, M. Porteous, E. Burns, L. Barron, and J. Warner Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports J Neurol Neurosurg Psychiatry 75 3 2004 459 465
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, Issue.3
, pp. 459-465
-
-
Zeman, A.1
Stone, J.2
Porteous, M.3
Burns, E.4
Barron, L.5
Warner, J.6
-
9
-
-
0034640938
-
The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)
-
J.P. Nemes, K.A. Benzow, M.L. Moseley, L.P. Ranum, and M.D. Koob The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1) Hum Mol Genet 9 10 2000 1543 1551
-
(2000)
Hum Mol Genet
, vol.9
, Issue.10
, pp. 1543-1551
-
-
Nemes, J.P.1
Benzow, K.A.2
Moseley, M.L.3
Ranum, L.P.4
Koob, M.D.5
-
10
-
-
7344220911
-
CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): Early impairment of Wisconsin Card Sorting Test and saccade velocity
-
A. Gambardella, G. Annesi, F. Bono, P. Spadafora, P. Valentino, and A.A. Pasqua CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity J Neurol 245 10 1998 647 652
-
(1998)
J Neurol
, vol.245
, Issue.10
, pp. 647-652
-
-
Gambardella, A.1
Annesi, G.2
Bono, F.3
Spadafora, P.4
Valentino, P.5
Pasqua, A.A.6
-
11
-
-
0345435256
-
Cognitive deficits in spinocerebellar ataxia 2
-
K. Bürk, C. Globas, S. Bösch, S. Gräber, M. Abele, and A. Brice Cognitive deficits in spinocerebellar ataxia 2 Brain 122 4 1999 769 777
-
(1999)
Brain
, vol.122
, Issue.4
, pp. 769-777
-
-
Bürk, K.1
Globas, C.2
Bösch, S.3
Gräber, S.4
Abele, M.5
Brice, A.6
-
12
-
-
0032958984
-
Spinocerebellar ataxia type 2: Clinical features of a pedigree displaying prominent frontal-executive dysfunction
-
E. Storey, S.M. Forrest, J.H. Shaw, P. Mitchell, and R.J. Gardner Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction Arch Neurol 56 1 1999 43 50
-
(1999)
Arch Neurol
, vol.56
, Issue.1
, pp. 43-50
-
-
Storey, E.1
Forrest, S.M.2
Shaw, J.H.3
Mitchell, P.4
Gardner, R.J.5
-
13
-
-
0034953770
-
Executive dysfunction in spinocerebellar ataxia type 1
-
K. Bürk, S. Bösch, C. Globas, C. Zühlke, I. Daum, and T. Klockgether Executive dysfunction in spinocerebellar ataxia type 1 Eur Neurol 46 1 2001 43 48
-
(2001)
Eur Neurol
, vol.46
, Issue.1
, pp. 43-48
-
-
Bürk, K.1
Bösch, S.2
Globas, C.3
Zühlke, C.4
Daum, I.5
Klockgether, T.6
-
14
-
-
0037105960
-
Cognitive findings in spinocerebellar ataxia type 2: Relationship to genetic and clinical variables
-
F. Le Pira, G. Zappala, R. Saponara, E. Domina, D.A. Restivo, and E. Reggio Cognitive findings in spinocerebellar ataxia type 2: relationship to genetic and clinical variables J Neurol Sci 201 1-2 2002 53 57
-
(2002)
J Neurol Sci
, vol.201
, Issue.1-2
, pp. 53-57
-
-
Le Pira, F.1
Zappala, G.2
Saponara, R.3
Domina, E.4
Restivo, D.A.5
Reggio, E.6
-
15
-
-
1642430578
-
The cerebellum and cognition. Intellectual function in spinocerebellar ataxia type 6 (SCA6)
-
C. Globas, S. Bösch, Ch. Zühlke, I. Daum, J. Dichgans, and K. Bürk The cerebellum and cognition. Intellectual function in spinocerebellar ataxia type 6 (SCA6) J Neurol 250 12 2003 1482 1487
-
(2003)
J Neurol
, vol.250
, Issue.12
, pp. 1482-1487
-
-
Globas, C.1
Bösch, S.2
Zühlke, Ch.3
Daum, I.4
Dichgans, J.5
Bürk, K.6
-
16
-
-
0037320236
-
Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3
-
K. Bürk, C. Globas, S. Bösch, T. Klockgether, C. Zühlke, and I. Daum Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3 J Neurol 250 2 2003 207 211
-
(2003)
J Neurol
, vol.250
, Issue.2
, pp. 207-211
-
-
Bürk, K.1
Globas, C.2
Bösch, S.3
Klockgether, T.4
Zühlke, C.5
Daum, I.6
-
17
-
-
0029809405
-
Cognitive deficits in Machado-Joseph disease
-
P. Maruff, P. Tyler, T. Burt, B. Currie, C. Burns, and J. Currie Cognitive deficits in Machado-Joseph disease Ann Neurol 40 3 1996 421 427
-
(1996)
Ann Neurol
, vol.40
, Issue.3
, pp. 421-427
-
-
Maruff, P.1
Tyler, P.2
Burt, T.3
Currie, B.4
Burns, C.5
Currie, J.6
-
18
-
-
0033925737
-
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles
-
I. Silveira, I. Alonso, L. Guimaraes, P. Mendonca, C. Santos, and P. Maciel High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles Am J Hum Genet 66 3 2000 830 840
-
(2000)
Am J Hum Genet
, vol.66
, Issue.3
, pp. 830-840
-
-
Silveira, I.1
Alonso, I.2
Guimaraes, L.3
Mendonca, P.4
Santos, C.5
MacIel, P.6
-
19
-
-
18444366738
-
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions
-
A. Brusco, C. Cagnoli, A. Franco, E. Dragone, A. Nardacchione, and E. Grosso Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions J Neurol 249 7 2002 923 929
-
(2002)
J Neurol
, vol.249
, Issue.7
, pp. 923-929
-
-
Brusco, A.1
Cagnoli, C.2
Franco, A.3
Dragone, E.4
Nardacchione, A.5
Grosso, E.6
-
20
-
-
0025317069
-
Screening for cognitive impairment in multiple sclerosis. An evaluation of the Mini-Mental State Examination
-
W.W. Beatty, and D.E. Goodkin Screening for cognitive impairment in multiple sclerosis. An evaluation of the Mini-Mental State Examination Arch Neurol 47 3 1990 297 301
-
(1990)
Arch Neurol
, vol.47
, Issue.3
, pp. 297-301
-
-
Beatty, W.W.1
Goodkin, D.E.2
-
21
-
-
0035086368
-
Incoordinated thought and emotion in spinocerebellar ataxia type 8
-
J. Stone, L. Smith, K. Watt, L. Barron, and A. Zeman Incoordinated thought and emotion in spinocerebellar ataxia type 8 J Neurol 248 3 2001 229 232
-
(2001)
J Neurol
, vol.248
, Issue.3
, pp. 229-232
-
-
Stone, J.1
Smith, L.2
Watt, K.3
Barron, L.4
Zeman, A.5
-
23
-
-
84965520932
-
The CES-D Scale: A self-report depression scale for research in the general population
-
L.S. Radloff The CES-D Scale: a self-report depression scale for research in the general population Appl Psychol Meas 1 1977 385 401
-
(1977)
Appl Psychol Meas
, vol.1
, pp. 385-401
-
-
Radloff, L.S.1
-
24
-
-
0025275242
-
Idiopathic cerebellar ataxia of late onset: Natural history and MRI morphology
-
T. Klockgether, G. Schroth, H.C. Diener, and J. Dichgans Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology J Neurol Neurosurg Psychiatry 53 4 1990 297 305
-
(1990)
J Neurol Neurosurg Psychiatry
, vol.53
, Issue.4
, pp. 297-305
-
-
Klockgether, T.1
Schroth, G.2
Diener, H.C.3
Dichgans, J.4
-
25
-
-
0016823810
-
"mini mental state": A practical method for grading the cognitive state of patients for the clinician
-
M.F. Folstein, S.E. Folstein, and P.R. McHugh "Mini mental state": a practical method for grading the cognitive state of patients for the clinician J Psychiatr Res 12 3 1975 189 198
-
(1975)
J Psychiatr Res
, vol.12
, Issue.3
, pp. 189-198
-
-
Folstein, M.F.1
Folstein, S.E.2
McHugh, P.R.3
-
27
-
-
0027356746
-
Slowing of information processing in Parkinson's disease
-
A. Revonsuo, R. Portin, L. Koivikko, J.O. Rinne, and U.K. Rinne Slowing of information processing in Parkinson's disease Brain Cogn 21 1 1993 87 110
-
(1993)
Brain Cogn
, vol.21
, Issue.1
, pp. 87-110
-
-
Revonsuo, A.1
Portin, R.2
Koivikko, L.3
Rinne, J.O.4
Rinne, U.K.5
-
28
-
-
0028054319
-
Automatic and controlled information processing in multiple sclerosis
-
P. Kujala, R. Portin, A. Revonsuo, and J. Ruutiainen Automatic and controlled information processing in multiple sclerosis Brain 117 5 1994 1115 1126
-
(1994)
Brain
, vol.117
, Issue.5
, pp. 1115-1126
-
-
Kujala, P.1
Portin, R.2
Revonsuo, A.3
Ruutiainen, J.4
-
29
-
-
0029076481
-
Attention related performance in two cognitively different subgroups of patients with multiple sclerosis
-
P. Kujala, R. Portin, A. Revonsuo, and J. Ruutiainen Attention related performance in two cognitively different subgroups of patients with multiple sclerosis J Neurol Neurosurg Psychiatry 59 1 1995 77 82
-
(1995)
J Neurol Neurosurg Psychiatry
, vol.59
, Issue.1
, pp. 77-82
-
-
Kujala, P.1
Portin, R.2
Revonsuo, A.3
Ruutiainen, J.4
-
30
-
-
0035876339
-
Short-term effects of radiotherapy on attention and memory performances in patients with brain tumors
-
A.M. Lilja, R.I. Portin, P.I. Hämäläinen, and E.K. Salminen Short-term effects of radiotherapy on attention and memory performances in patients with brain tumors Cancer 91 12 2001 2361 2368
-
(2001)
Cancer
, vol.91
, Issue.12
, pp. 2361-2368
-
-
Lilja, A.M.1
Portin, R.I.2
Hämäläinen, P.I.3
Salminen, E.K.4
-
31
-
-
0032838075
-
Serum estrogen level, attention, memory and other cognitive functions in middle-aged women
-
R. Portin, P. Polo-Kantola, O. Polo, T. Koskinen, A. Revonsuo, and K. Irjala Serum estrogen level, attention, memory and other cognitive functions in middle-aged women Climacteric 2 2 1999 115 123
-
(1999)
Climacteric
, vol.2
, Issue.2
, pp. 115-123
-
-
Portin, R.1
Polo-Kantola, P.2
Polo, O.3
Koskinen, T.4
Revonsuo, A.5
Irjala, K.6
-
32
-
-
0141687342
-
-
The Psychological Corporation New York
-
D. Wechsler WAIS-R manual 1981 The Psychological Corporation New York
-
(1981)
WAIS-R Manual
-
-
Wechsler, D.1
-
33
-
-
57049145197
-
Studies of interference in serial verbal reactions
-
J.R. Stroop Studies of interference in serial verbal reactions J Exp Psychol 18 1935 643 662
-
(1935)
J Exp Psychol
, vol.18
, pp. 643-662
-
-
Stroop, J.R.1
-
35
-
-
0016392213
-
Recovery after minor head injury
-
D. Gronwall, and P. Wrightson Recovery after minor head injury Lancet 2 7894 1974 1452
-
(1974)
Lancet
, vol.2
, Issue.7894
, pp. 1452
-
-
Gronwall, D.1
Wrightson, P.2
-
36
-
-
0017615754
-
Paced auditory serial-addition task: A measure of recovery from concussion
-
D.M. Gronwall Paced auditory serial-addition task: a measure of recovery from concussion Percept Mot Skills 44 2 1977 367 373
-
(1977)
Percept Mot Skills
, vol.44
, Issue.2
, pp. 367-373
-
-
Gronwall, D.M.1
-
37
-
-
0020406199
-
A preliminary study of the problem-solving strategies of detoxified long-term alcoholics
-
M. Laine, and N. Butters A preliminary study of the problem-solving strategies of detoxified long-term alcoholics Drug Alcohol Depend 10 2-3 1982 235 242
-
(1982)
Drug Alcohol Depend
, vol.10
, Issue.2-3
, pp. 235-242
-
-
Laine, M.1
Butters, N.2
-
39
-
-
0017033821
-
A modified card sorting test sensitive to frontal lobe defects
-
H.E. Nelson A modified card sorting test sensitive to frontal lobe defects Cortex 12 4 1976 313 324
-
(1976)
Cortex
, vol.12
, Issue.4
, pp. 313-324
-
-
Nelson, H.E.1
-
41
-
-
0034642168
-
The FAB: A frontal assessment battery at bedside
-
B. Dubois, A. Slachevsky, I. Litvan, and B. Pillon The FAB: a frontal assessment battery at bedside Neurology 55 11 2000 1621 1626
-
(2000)
Neurology
, vol.55
, Issue.11
, pp. 1621-1626
-
-
Dubois, B.1
Slachevsky, A.2
Litvan, I.3
Pillon, B.4
-
44
-
-
0002761671
-
Neuropsychological responses of parkinsonian patients to long-term levodopa treatment
-
U.K. Rinne M. Klingler G. Stamm Biomedical Press, Elsevier
-
R. Portin, and U.K. Rinne Neuropsychological responses of parkinsonian patients to long-term levodopa treatment U.K. Rinne M. Klingler G. Stamm Parkinson's disease-current progress, problems and management 1980 Biomedical Press, Elsevier 271 304
-
(1980)
Parkinson's Disease-current Progress, Problems and Management
, pp. 271-304
-
-
Portin, R.1
Rinne, U.K.2
-
47
-
-
0014399636
-
Clinical and psychometrical study of a patient with memory disturbances
-
J. Barbizet, and E. Cany Clinical and psychometrical study of a patient with memory disturbances Int J Neurol 7 1 1968 44 54
-
(1968)
Int J Neurol
, vol.7
, Issue.1
, pp. 44-54
-
-
Barbizet, J.1
Cany, E.2
-
48
-
-
0021223719
-
Memory disturbances in chronic progressive multiple sclerosis
-
S.M. Rao, T.A. Hammeke, M.P. McQuillen, B.O. Khatri, and D. Lloyd Memory disturbances in chronic progressive multiple sclerosis Arch Neurol 41 6 1984 625 631
-
(1984)
Arch Neurol
, vol.41
, Issue.6
, pp. 625-631
-
-
Rao, S.M.1
Hammeke, T.A.2
McQuillen, M.P.3
Khatri, B.O.4
Lloyd, D.5
-
49
-
-
0042670017
-
Age, education and test performance on the CERAD. Finnish
-
M. Karrasch, and M. Laine Age, education and test performance on the CERAD. Finnish Acta Neurol Scand 108 2 2003 97 101
-
(2003)
Acta Neurol Scand
, vol.108
, Issue.2
, pp. 97-101
-
-
Karrasch, M.1
Laine, M.2
-
53
-
-
0025186932
-
Guidelines for neuropsychological research in multiple sclerosis
-
J.M. Peyser, S.M. Rao, N.G. LaRocca, and E. Kaplan Guidelines for neuropsychological research in multiple sclerosis Arch Neurol 47 1 1990 94 97
-
(1990)
Arch Neurol
, vol.47
, Issue.1
, pp. 94-97
-
-
Peyser, J.M.1
Rao, S.M.2
Larocca, N.G.3
Kaplan, E.4
-
54
-
-
0036765122
-
Executive and emotional dysfunction in Machado-Joseph disease
-
T.M. Zawacki, J. Grace, J.H. Friedman, and L. Sudarsky Executive and emotional dysfunction in Machado-Joseph disease Mov Disord 17 5 2002 1004 1010
-
(2002)
Mov Disord
, vol.17
, Issue.5
, pp. 1004-1010
-
-
Zawacki, T.M.1
Grace, J.2
Friedman, J.H.3
Sudarsky, L.4
|