-
1
-
-
2642686623
-
Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3
-
Abele M, Bürk K, Andres F, Topka H, Laccone F, Bösch S, et al. Autosomal dominant cerebellar ataxia type I. Nerve conduction and evoked potential studies in families with SCA1, SCA2 and SCA3. Brain 1997, 120: 2141-8.
-
(1997)
Brain
, vol.120
, pp. 2141-2148
-
-
Abele, M.1
Bürk, K.2
Andres, F.3
Topka, H.4
Laccone, F.5
Bösch, S.6
-
2
-
-
34250457933
-
Dominant erblicher Typ von 'cerebellärer Ataxie'
-
Backer PE, Sabuncu N, Hopf HC. Dominant erblicher Typ von 'cerebellärer Ataxie'. Z Neurol 1971; 199: 116-39.
-
(1971)
Z Neurol
, vol.199
, pp. 116-139
-
-
Backer, P.E.1
Sabuncu, N.2
Hopf, H.C.3
-
3
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type I: Clinical features and MRI in families with SCA1, SCA2 and SCA3
-
Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, et al. Autosomal dominant cerebellar ataxia type I: clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996; 119: 1497-505.
-
(1996)
Brain
, vol.119
, pp. 1497-1505
-
-
Bürk, K.1
Abele, M.2
Fetter, M.3
Dichgans, J.4
Skalej, M.5
Laccone, F.6
-
4
-
-
9244225693
-
Spinocerebellar ataxia 3 and Machado-Joseph disease: Clinical, molecular, and neuropathological features
-
Dürr A, Stevanin G, Cancel G, Duyckaerts C, Abbas N, Didierjean O, et al. Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features. Ann Neurol 1996; 39: 490-9.
-
(1996)
Ann Neurol
, vol.39
, pp. 490-499
-
-
Dürr, A.1
Stevanin, G.2
Cancel, G.3
Duyckaerts, C.4
Abbas, N.5
Didierjean, O.6
-
5
-
-
0028901773
-
Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family
-
Filla A, De Michele G, Banfi S, Santoro L, Perretti A, Cavalcanti F, et al. Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 1995; 45: 793-6.
-
(1995)
Neurology
, vol.45
, pp. 793-796
-
-
Filla, A.1
De Michele, G.2
Banfi, S.3
Santoro, L.4
Perretti, A.5
Cavalcanti, F.6
-
7
-
-
0028819081
-
-
n expansion and early premonitory signs and symptoms [see comments]. Neurology 1995; 45: 24-30. Comment in: Neurology 1995; 45: 1-5.
-
(1995)
Neurology
, vol.45
, pp. 1-5
-
-
-
8
-
-
0030040304
-
Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions
-
Gilman S, Sima AA, Junck L, Kluin KJ, Koeppe RA, Lohman ME, et al. Spinocerebellar ataxia type 1 with multiple system degeneration and glial cytoplasmic inclusions. Ann Neurol 1996; 39: 241-55.
-
(1996)
Ann Neurol
, vol.39
, pp. 241-255
-
-
Gilman, S.1
Sima, A.A.2
Junck, L.3
Kluin, K.J.4
Koeppe, R.A.5
Lohman, M.E.6
-
9
-
-
0024853961
-
Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia
-
Goldfarb LG, Chumakov MP, Petrov PA, Fedorova NI, Gajdusek DC. Olivopontocerebellar atrophy in a large Iakut kinship in eastern Siberia. Neurology 1989; 39: 1527-30.
-
(1989)
Neurology
, vol.39
, pp. 1527-1530
-
-
Goldfarb, L.G.1
Chumakov, M.P.2
Petrov, P.A.3
Fedorova, N.I.4
Gajdusek, D.C.5
-
11
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of 'the Drew family of Walworth'
-
Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of 'the Drew family of Walworth'. Brain 1982; 105: 1-28.
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
12
-
-
0000834705
-
An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia
-
Holmes G. An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain 1907; 30: 545-67.
-
(1907)
Brain
, vol.30
, pp. 545-567
-
-
Holmes, G.1
-
13
-
-
0030294345
-
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats
-
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Gamier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [see comments]. Nat Genet 1996; 14: 285-91. Comment in: Nat Genet 1996; 14: 237-8.
-
(1996)
Nat Genet
, vol.14
, pp. 285-291
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
Devys, D.4
Trottier, Y.5
Gamier, J.M.6
-
14
-
-
0030294445
-
-
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Gamier JM, et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats [see comments]. Nat Genet 1996; 14: 285-91. Comment in: Nat Genet 1996; 14: 237-8.
-
(1996)
Nat Genet
, vol.14
, pp. 237-238
-
-
-
15
-
-
0028143527
-
CAG expansions in a novel gene for Machado - Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado - Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet 1994; 8: 221-228. Comment in: Nat Genet 1994; 8: 213-5.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
-
16
-
-
0027996828
-
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado - Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet 1994; 8: 221-228. Comment in: Nat Genet 1994; 8: 213-5.
-
(1994)
Nat Genet
, vol.8
, pp. 213-215
-
-
-
18
-
-
6844236985
-
The natural history of degenerative ataxia: A retrospective study in 466 patients
-
Klockgether T, Lüdtke R, Kramer B, Abele M, Bürk K, Schöls L, et al. The natural history of degenerative ataxia: a retrospective study in 466 patients. Brain 1998; 121: 589-600.
-
(1998)
Brain
, vol.121
, pp. 589-600
-
-
Klockgether, T.1
Lüdtke, R.2
Kramer, B.3
Abele, M.4
Bürk, K.5
Schöls, L.6
-
19
-
-
0030184668
-
Reliability and exactness of MRI-based volumetry: A phantom study
-
Luft AR, Skalej M, Welte D, Kolb R, Klose U. Reliability and exactness of MRI-based volumetry: a phantom study. J Magn Reson Imaging 1996; 6: 700-4.
-
(1996)
J Magn Reson Imaging
, vol.6
, pp. 700-704
-
-
Luft, A.R.1
Skalej, M.2
Welte, D.3
Kolb, R.4
Klose, U.5
-
20
-
-
0031841672
-
A new semi-automated, three-dimensional technique allowing quantification of cerebellar volume and its substructure using MRI
-
In press
-
Luft AR, Skalej M, Welte D, Kolb R, Bürk K, Schulz JB, et al. A new semi-automated, three-dimensional technique allowing quantification of cerebellar volume and its substructure using MRI. Magn Res Med. In press 1998.
-
(1998)
Magn Res Med.
-
-
Luft, A.R.1
Skalej, M.2
Welte, D.3
Kolb, R.4
Bürk, K.5
Schulz, J.B.6
-
21
-
-
0029006340
-
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease
-
Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995; 38: 68-72.
-
(1995)
Ann Neurol
, vol.38
, pp. 68-72
-
-
Matilla, T.1
McCall, A.2
Subramony, S.H.3
Zoghbi, H.Y.4
-
23
-
-
0018892013
-
A family with hereditary ataxia: HLA typing
-
Nino HE, Noreen HJ, Dubey DP, Resch JA, Namboodiri K, Elston RC, et al. A family with hereditary ataxia: HLA typing. Neurology 1980; 30: 12-20.
-
(1980)
Neurology
, vol.30
, pp. 12-20
-
-
Nino, H.E.1
Noreen, H.J.2
Dubey, D.P.3
Resch, J.A.4
Namboodiri, K.5
Elston, R.C.6
-
24
-
-
0024422743
-
Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings
-
Orozco G, Estrada R, Perry TL, Arana J, Fernandez R, Gonzalez-Quevedo A, et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba. Clinical, neuropathological, and biochemical findings. J Neurol Sci 1989; 93: 37-50.
-
(1989)
J Neurol Sci
, vol.93
, pp. 37-50
-
-
Orozco, G.1
Estrada, R.2
Perry, T.L.3
Arana, J.4
Fernandez, R.5
Gonzalez-Quevedo, A.6
-
25
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993; 4: 221-6.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
-
26
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet 1996; 14: 269-76. Comment in: Nat Genet 1996; 14: 237-8.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
Gispert, S.4
Chen, X.N.5
Lopes-Cendes, I.6
-
27
-
-
0030294445
-
-
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2 [see comments]. Nat Genet 1996; 14: 269-76. Comment in: Nat Genet 1996; 14: 237-8.
-
(1996)
Nat Genet
, vol.14
, pp. 237-238
-
-
-
28
-
-
0024474837
-
Multiple system atrophy - The nature of the beast
-
Quinn N. Multiple system atrophy - the nature of the beast, [Review]. J Neurol Neurosurg Psychiatry 1989; Suppl: 78-89.
-
(1989)
J Neurol Neurosurg Psychiatry
, Issue.SUPPL.
, pp. 78-89
-
-
Quinn, N.1
-
29
-
-
0017117382
-
Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder
-
Rosenberg RN, Nyhan WL, Bay C, Shore P. Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder. Neurology 1976; 26: 703-14.
-
(1976)
Neurology
, vol.26
, pp. 703-714
-
-
Rosenberg, R.N.1
Nyhan, W.L.2
Bay, C.3
Shore, P.4
-
30
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT [see comments]. Nature Genet 1996; 14: 277-284. Comment in: Nat Genet 1996; 14: 237-8.
-
(1996)
Nature Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
Sato, T.4
Oyake, M.5
Sasaki, H.6
-
31
-
-
0030294445
-
-
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT [see comments]. Nature Genet 1996; 14: 277-284. Comment in: Nat Genet 1996; 14: 237-8.
-
(1996)
Nat Genet
, vol.14
, pp. 237-238
-
-
-
32
-
-
0028659025
-
Multiple system atrophy: Natural history, MRI morphology, and dopamine receptor imaging with 123IBZMSPECT
-
Schulz JB, Klockgether T, Petersen D, Jauch M, Muller-Schauenburg W, Spieker S, et al. Multiple system atrophy: natural history, MRI morphology, and dopamine receptor imaging with 123IBZMSPECT. J Neurol Neurosurg Psychiatry 1994; 57: 1047-56.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 1047-1056
-
-
Schulz, J.B.1
Klockgether, T.2
Petersen, D.3
Jauch, M.4
Muller-Schauenburg, W.5
Spieker, S.6
-
33
-
-
0000051759
-
Hereditary ataxia. Clinical study through six generations
-
Schut JW. Hereditary ataxia. Clinical study through six generations. Arch Neurol Psychiat 1950; 63: 535-68.
-
(1950)
Arch Neurol Psychiat
, vol.63
, pp. 535-568
-
-
Schut, J.W.1
-
34
-
-
84948009382
-
Hereditary ataxia: A pathological study of five cases of common ancestry
-
Schut JW, Haymaker W. Hereditary ataxia: a pathological study of five cases of common ancestry [abstract]. J Neuropath Clin Neurol 1951; 1: 183-213.
-
(1951)
J Neuropath Clin Neurol
, vol.1
, pp. 183-213
-
-
Schut, J.W.1
Haymaker, W.2
-
35
-
-
0026582590
-
HLA-linked spinocerebellar ataxia: A clinical and genetic study of large Italian kindreds
-
Spadaro M, Giunti P, Lulli P, Frontali M, Jodice C, Cappellacci S, et al. HLA-linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds. Acta Neurol Scand 1992; 85: 257-65.
-
(1992)
Acta Neurol Scand
, vol.85
, pp. 257-265
-
-
Spadaro, M.1
Giunti, P.2
Lulli, P.3
Frontali, M.4
Jodice, C.5
Cappellacci, S.6
-
36
-
-
0028141691
-
A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q
-
Takiyama Y, Oyanagi S, Kawashima S, Sakamoto H, Saito K, Yoshida M, et al. A clinical and pathologic study of a large Japanese family with Machado-Joseph disease tightly linked to the DNA markers on chromosome 14q. Neurology 1994; 44: 1302-8.
-
(1994)
Neurology
, vol.44
, pp. 1302-1308
-
-
Takiyama, Y.1
Oyanagi, S.2
Kawashima, S.3
Sakamoto, H.4
Saito, K.5
Yoshida, M.6
-
37
-
-
0344680305
-
Quantifizierung des Fehlers von Volumenbestimmungen in der Kernspintomographie mit Hilfe von Agarose-Phantomen
-
Welte D, Klose U, Skalej M, Kolb R, Grunert T, Becker E, et al. Quantifizierung des Fehlers von Volumenbestimmungen in der Kernspintomographie mit Hilfe von Agarose-Phantomen. Z Med Phys 1995; 5: 208-15.
-
(1995)
Z Med Phys
, vol.5
, pp. 208-215
-
-
Welte, D.1
Klose, U.2
Skalej, M.3
Kolb, R.4
Grunert, T.5
Becker, E.6
-
38
-
-
0015412724
-
Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity
-
Woods BT, Schaumburg HH. Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity. J Neurol Sci 1972; 17: 149-66.
-
(1972)
J Neurol Sci
, vol.17
, pp. 149-166
-
-
Woods, B.T.1
Schaumburg, H.H.2
-
39
-
-
0027405101
-
Magnetic resonance imaging in hereditary and idiopathic ataxia
-
Wüllner U, Klockgether T, Petersen D, Naegele T, Dichgans J. Magnetic resonance imaging in hereditary and idiopathic ataxia [see comments]. Neurology 1993; 43: 318-325. Comment in: Neurology 1993; 43: 2425-6.
-
(1993)
Neurology
, vol.43
, pp. 318-325
-
-
Wüllner, U.1
Klockgether, T.2
Petersen, D.3
Naegele, T.4
Dichgans, J.5
-
40
-
-
0027696577
-
-
Wüllner U, Klockgether T, Petersen D, Naegele T, Dichgans J. Magnetic resonance imaging in hereditary and idiopathic ataxia [see comments]. Neurology 1993; 43: 318-325. Comment in: Neurology 1993; 43: 2425-6.
-
(1993)
Neurology
, vol.43
, pp. 2425-2426
-
-
|