-
1
-
-
0028659025
-
123IBZM-SPECT
-
123IBZM-SPECT J Neurol Neurosurg Psychiatry 57 1047 1056
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 1047-1056
-
-
Schulz, J.B.1
Klockgether, T.2
Petersen, D.3
Jauch, M.4
Müller-Schauenburg, W.5
Spieker, S.6
Voigt, K.7
Dichgans, J.8
-
3
-
-
0037732858
-
SCA2 may present as levodopa-responsive parkinsonism
-
H Payami J Nutt S Gancher T Bird MG McNeal WK Seltzer J Hussey P Lockhart K Gwinn-Hardy AA Singleton AB Singleton J Hardy M Farrer 2003 SCA2 may present as levodopa-responsive parkinsonism Mov Disord 18 425 429
-
(2003)
Mov Disord
, vol.18
, pp. 425-429
-
-
Payami, H.1
Nutt, J.2
Gancher, S.3
Bird, T.4
McNeal, M.G.5
Seltzer, W.K.6
Hussey, J.7
Lockhart, P.8
Gwinn-Hardy, K.9
Singleton, A.A.10
Singleton, A.B.11
Hardy, J.12
Farrer, M.13
-
4
-
-
30444440181
-
Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging
-
CT Loy MG Sweeney MB Davis AJ Wills GV Sawle AJ Lees SJ Tabrizi 2005 Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging Mov Disord 20 1521 1523
-
(2005)
Mov Disord
, vol.20
, pp. 1521-1523
-
-
Loy, C.T.1
Sweeney, M.G.2
Davis, M.B.3
Wills, A.J.4
Sawle, G.V.5
Lees, A.J.6
Tabrizi, S.J.7
-
5
-
-
0031966934
-
A necropsied case of Machado-Joseph disease with a hyperintense signal of transverse pontine fibres on long TR sequences of magnetic resonance images
-
Y Imon S Katayama H Kawakami Y Murata M Oka S Nakamura 1998 A necropsied case of Machado-Joseph disease with a hyperintense signal of transverse pontine fibres on long TR sequences of magnetic resonance images J Neurol Neurosurg Psychiatry 64 140 141
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.64
, pp. 140-141
-
-
Imon, Y.1
Katayama, S.2
Kawakami, H.3
Murata, Y.4
Oka, M.5
Nakamura, S.6
-
6
-
-
0035353759
-
Pontine MRI hyperintensities ('the cross sign') are not pathognomonic for multiple system atrophy (MSA)
-
K Burk M Skalej J Dichgans 2001 Pontine MRI hyperintensities ('the cross sign') are not pathognomonic for multiple system atrophy (MSA) Mov Disord 16 535
-
(2001)
Mov Disord
, vol.16
, pp. 535
-
-
Burk, K.1
Skalej, M.2
Dichgans, J.3
-
7
-
-
0031886590
-
Characteristic magnetic resonance imaging findings in Machado-Joseph disease
-
DOI 10.1001/archneur.55.1.33
-
Y Murata S Yamaguchi H Kawakami Y Imon H Maruyama T Sakai T Kazuta T Ohtake M Nishimura T Saida S Chiba T Oh-i S Nakamura 1998 Characteristic magnetic resonance imaging findings in Machado-Joseph disease Arch Neurol 55 33 37 (Pubitemid 28139104)
-
(1998)
Archives of Neurology
, vol.55
, Issue.1
, pp. 33-37
-
-
Murata, Y.1
Yamaguchi, S.2
Kawakami, H.3
Imon, Y.4
Maruyama, H.5
Sakai, T.6
Kazuta, T.7
Ohtake, T.8
Nishimura, M.9
Saida, T.10
Chiba, S.11
Oh-I, T.12
Nakamura, S.13
-
8
-
-
0031841672
-
A semi-automated, three dimensional technique allowing quantification of cerebellar volume and its substructure using MRI
-
AR Luft M Skalej D Welte R Kolb K Bürk JB Schulz T Klockgether K Voigt 1998 A semi-automated, three dimensional technique allowing quantification of cerebellar volume and its substructure using MRI Magn Reson Med 40 143 1451
-
(1998)
Magn Reson Med
, vol.40
, pp. 143-1451
-
-
Luft, A.R.1
Skalej, M.2
Welte, D.3
Kolb, R.4
Bürk, K.5
Schulz, J.B.6
Klockgether, T.7
Voigt, K.8
-
9
-
-
0030184668
-
Reliability and exactness of MRI-based volumetry: A phantom study
-
AR Luft M Skalej D Welte R Kolb 1996 Reliability and exactness of MRI-based volumetry: A phantom study J Magn Reson Imag 6 700 704
-
(1996)
J Magn Reson Imag
, vol.6
, pp. 700-704
-
-
Luft, A.R.1
Skalej, M.2
Welte, D.3
Kolb, R.4
-
10
-
-
0031683168
-
Autosomal dominant cerebellar ataxia type I: MRI-based volumetry of posterior fossa structures and basal ganglia in SCA1, SCA2, and SCA3
-
T Klockgether M Skalej D Wedekind A Luft D Welte J Schulz M Abele K Bürk F Laccone A Brice J Dichgans 1998 Autosomal dominant cerebellar ataxia type I: MRI-based volumetry of posterior fossa structures and basal ganglia in SCA1, SCA2, and SCA3 Brain 121 1687 1693
-
(1998)
Brain
, vol.121
, pp. 1687-1693
-
-
Klockgether, T.1
Skalej, M.2
Wedekind, D.3
Luft, A.4
Welte, D.5
Schulz, J.6
Abele, M.7
Bürk, K.8
Laccone, F.9
Brice, A.10
Dichgans, J.11
-
11
-
-
0032925853
-
MRI-based volumetry differentiates idiopathic Parkinson's syndrome from MSA and PSP
-
JB Schulz M Skalej D Wedekind AR Luft M Abele K Voigt J Dichgans T Klockgether 1999 MRI-based volumetry differentiates idiopathic Parkinson's syndrome from MSA and PSP Ann Neurol 45 65 74
-
(1999)
Ann Neurol
, vol.45
, pp. 65-74
-
-
Schulz, J.B.1
Skalej, M.2
Wedekind, D.3
Luft, A.R.4
Abele, M.5
Voigt, K.6
Dichgans, J.7
Klockgether, T.8
-
13
-
-
0037465774
-
Diffusion-weighted imaging discriminates progressive supranuclear palsy from PD, but not from the parkinson variant of multiple system atrophy
-
K Seppi MF Schocke R Esterhammer C Kremser C Brenneis J Mueller S Boesch W Jaschke W Poewe GK Wenning 2003 Diffusion-weighted imaging discriminates progressive supranuclear palsy from PD, but not from the parkinson variant of multiple system atrophy Neurology 60 922 927
-
(2003)
Neurology
, vol.60
, pp. 922-927
-
-
Seppi, K.1
Schocke, M.F.2
Esterhammer, R.3
Kremser, C.4
Brenneis, C.5
Mueller, J.6
Boesch, S.7
Jaschke, W.8
Poewe, W.9
Wenning, G.K.10
-
15
-
-
33847738108
-
Diffusionweighted magnetic resonance imaging differentiates Parkinsonian variant of multiple-system atrophy from progressive supranuclear palsy
-
DC Paviour JS Thornton AJ Lees HR Jager 2007 Diffusionweighted magnetic resonance imaging differentiates Parkinsonian variant of multiple-system atrophy from progressive supranuclear palsy Mov Disord 22 68 74
-
(2007)
Mov Disord
, vol.22
, pp. 68-74
-
-
Paviour, D.C.1
Thornton, J.S.2
Lees, A.J.3
Jager, H.R.4
-
16
-
-
33749461554
-
Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy
-
G Nicoletti R Lodi F Condino C Tonon F Fera E Malucelli D Manners M Zappia L Morgante P Barone B Barbiroli A Quattrone 2006 Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy Brain 129 2679 2687
-
(2006)
Brain
, vol.129
, pp. 2679-2687
-
-
Nicoletti, G.1
Lodi, R.2
Condino, F.3
Tonon, C.4
Fera, F.5
Malucelli, E.6
Manners, D.7
Zappia, M.8
Morgante, L.9
Barone, P.10
Barbiroli, B.11
Quattrone, A.12
-
17
-
-
4043130355
-
Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study
-
L Guerrini F Lolli A Ginestroni G Belli R Della Nave C Tessa S Foresti M Cosottini S Piacentini F Salvi R Plasmati D De Grandis G Siciliano A Filla M Mascalchi 2004 Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study Brain 127 1785 1795
-
(2004)
Brain
, vol.127
, pp. 1785-1795
-
-
Guerrini, L.1
Lolli, F.2
Ginestroni, A.3
Belli, G.4
Della Nave, R.5
Tessa, C.6
Foresti, S.7
Cosottini, M.8
Piacentini, S.9
Salvi, F.10
Plasmati, R.11
De Grandis, D.12
Siciliano, G.13
Filla, A.14
Mascalchi, M.15
-
19
-
-
33749515747
-
Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: A voxel-based morphometry study
-
C Lukas L Schols B Bellenberg U Rub H Przuntek G Schmid O Koster B Suchan 2006 Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: A voxel-based morphometry study Neurosci Lett 408 230 235
-
(2006)
Neurosci Lett
, vol.408
, pp. 230-235
-
-
Lukas, C.1
Schols, L.2
Bellenberg, B.3
Rub, U.4
Przuntek, H.5
Schmid, G.6
Koster, O.7
Suchan, B.8
-
20
-
-
33749265306
-
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)
-
K Lasek R Lencer C Gaser J Hagenah U Walter A Wolters N Kock S Steinlechner M Nagel C Zuhlke MF Nitschke K Brockmann C Klein A Rolfs F Binkofski 2006 Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17) Brain 129 2341 2352
-
(2006)
Brain
, vol.129
, pp. 2341-2352
-
-
Lasek, K.1
Lencer, R.2
Gaser, C.3
Hagenah, J.4
Walter, U.5
Wolters, A.6
Kock, N.7
Steinlechner, S.8
Nagel, M.9
Zuhlke, C.10
Nitschke, M.F.11
Brockmann, K.12
Klein, C.13
Rolfs, A.14
Binkofski, F.15
-
21
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
L Schols P Bauer T Schmidt T Schulte O Riess 2004 Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis Lancet Neurol 3 291 304
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
22
-
-
0029959667
-
Autosomal dominant cerebellar ataxia type I. Clinical features and MRI in families with SCA1, SCA2 and SCA3
-
DOI 10.1093/brain/119.5.1497
-
K Burk M Abele M Fetter J Dichgans M Skalej F Laccone O Didierjean A Brice T Klockgether 1996 Autosomal dominant cerebellar ataxia type I clinical features and MRI in families with SCA1, SCA2 and SCA3 Brain 119 Pt 5 1497 1505 (Pubitemid 26375722)
-
(1996)
Brain
, vol.119
, Issue.5
, pp. 1497-1505
-
-
Burk, K.1
Abele, M.2
Fetter, M.3
Dichgans, J.4
Skalej, M.5
Laccone, F.6
Didierjean, O.7
Brice, A.8
Klockgether, T.9
-
23
-
-
33644764149
-
Characteristic signal changes in the pontine base on T2- and multishot diffusion-weighted images in spinocerebellar ataxia type 1
-
M Adachi T Kawanami H Ohshima T Hosoya 2006 Characteristic signal changes in the pontine base on T2- and multishot diffusion-weighted images in spinocerebellar ataxia type 1 Neuroradiology 48 8 13
-
(2006)
Neuroradiology
, vol.48
, pp. 8-13
-
-
Adachi, M.1
Kawanami, T.2
Ohshima, H.3
Hosoya, T.4
-
26
-
-
0242526280
-
Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients
-
DOI 10.1007/s004150050368
-
S Giuffrida R Saponara DA Restivo A Trovato Salinaro L Tomarchio P Pugliares G Fabbri C Maccagnano 1999 Supratentorial atrophy in spinocerebellar ataxia type 2: MRI study of 20 patients J Neurol 246 383 388 (Pubitemid 29261429)
-
(1999)
Journal of Neurology
, vol.246
, Issue.5
, pp. 383-388
-
-
Giuffrida, S.1
Saponara, R.2
Restivo, D.A.3
Salinaro, A.T.4
Tomarchio, L.5
Pugliares, P.6
Fabbri, G.7
Maccagnano, C.8
-
27
-
-
0038119658
-
Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region
-
Y Hellenbroich S Bubel H Pawlack S Opitz P Vieregge E Schwinger C Zuhlke 2003 Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region J Neurol 250 668 671
-
(2003)
J Neurol
, vol.250
, pp. 668-671
-
-
Hellenbroich, Y.1
Bubel, S.2
Pawlack, H.3
Opitz, S.4
Vieregge, P.5
Schwinger, E.6
Zuhlke, C.7
-
28
-
-
33745513217
-
Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration
-
Y Hellenbroich K Gierga E Reusche E Schwinger T Deller RA de Vos C Zuhlke U Rub 2006 Spinocerebellar ataxia type 4 (SCA4): Initial pathoanatomical study reveals widespread cerebellar and brainstem degeneration J Neural Transmiss (Vienna, Austria) 113 829 843
-
(2006)
J Neural Transmiss (Vienna, Austria)
, vol.113
, pp. 829-843
-
-
Hellenbroich, Y.1
Gierga, K.2
Reusche, E.3
Schwinger, E.4
Deller, T.5
De Vos, R.A.6
Zuhlke, C.7
Rub, U.8
-
29
-
-
0842347338
-
Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred
-
K Burk C Zuhlke IR Konig A Ziegler E Schwinger C Globas J Dichgans Y Hellenbroich 2004 Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred Neurology 62 327 329
-
(2004)
Neurology
, vol.62
, 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
-
30
-
-
31744441984
-
Spectrin mutations cause spinocerebellar ataxia type 5
-
Y Ikeda KA Dick MR Weatherspoon D Gincel KR Armbrust JC Dalton G Stevanin A Durr C Zuhlke K Burk HB Clark A Brice JD Rothstein LJ Schut JW Day LP Ranum 2006 Spectrin mutations cause spinocerebellar ataxia type 5 Nat Genet 38 184 190
-
(2006)
Nat Genet
, vol.38
, pp. 184-190
-
-
Ikeda, Y.1
Dick, K.A.2
Weatherspoon, M.R.3
Gincel, D.4
Armbrust, K.R.5
Dalton, J.C.6
Stevanin, G.7
Durr, A.8
Zuhlke, C.9
Burk, K.10
Clark, H.B.11
Brice, A.12
Rothstein, J.D.13
Schut, L.J.14
Day, J.W.15
Ranum, L.P.16
-
31
-
-
0032834350
-
Clinical and MRI findings in spinocerebellar ataxia type 5
-
G Stevanin A Herman A Brice A Durr 1999 Clinical and MRI findings in spinocerebellar ataxia type 5 Neurology 53 1355 1357 (Pubitemid 29480105)
-
(1999)
Neurology
, vol.53
, Issue.6
, pp. 1355-1357
-
-
Stevanin, G.1
Herman, A.2
Brice, A.3
Durr, A.4
-
33
-
-
0031726035
-
Spinocerebellar ataxia type 6: MRI of three Japanese patients
-
JI Satoh H Tokumoto M Yukitake M Matsui Z Matsuyama H Kawakami S Nakamura Y Kuroda 1998 Spinocerebellar ataxia type 6: MRI of three Japanese patients Neuroradiology 40 222 227
-
(1998)
Neuroradiology
, vol.40
, pp. 222-227
-
-
Satoh, J.I.1
Tokumoto, H.2
Yukitake, M.3
Matsui, M.4
Matsuyama, Z.5
Kawakami, H.6
Nakamura, S.7
Kuroda, Y.8
-
34
-
-
23744481711
-
Radiological characterization of spinocerebellar ataxia type 6
-
D Butteriss P Chinnery D Birchall 2005 Radiological characterization of spinocerebellar ataxia type 6 Br J Radiol 78 694 696
-
(2005)
Br J Radiol
, vol.78
, pp. 694-696
-
-
Butteriss, D.1
Chinnery, P.2
Birchall, D.3
-
35
-
-
0031718453
-
Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6
-
DOI 10.1001/archneur.55.10.1348
-
Y Murata H Kawakami S Yamaguchi M Nishimura T Kohriyama F Ishizaki Z Matsuyama Y Mimori S Nakamura 1998 Characteristic magnetic resonance imaging findings in spinocerebellar ataxia 6 Arch Neurol 55 1348 1352 (Pubitemid 28465869)
-
(1998)
Archives of Neurology
, vol.55
, Issue.10
, pp. 1348-1352
-
-
Mumta, Y.1
Kawakami, H.2
Yamaguchi, S.3
Nishimura, M.4
Kohriyama, T.5
Ishizaki, F.6
Matsuyama, Z.7
Mimori, Y.8
Nakamitm, S.9
-
37
-
-
4644244411
-
Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis
-
OY Bang PH Lee SY Kim HJ Kim K Huh 2004 Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis J Neurol Neurosurg Psychiatry 75 1452 1456
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 1452-1456
-
-
Bang, O.Y.1
Lee, P.H.2
Kim, S.Y.3
Kim, H.J.4
Huh, K.5
-
38
-
-
0038479921
-
Do CTG expansions at the SCA8 locus cause ataxia?
-
L Schols I Bauer C Zuhlke T Schulte C Kolmel K Burk H Topka P Bauer H Przuntek O Riess 2003 Do CTG expansions at the SCA8 locus cause ataxia? Ann Neurol 54 110 115
-
(2003)
Ann Neurol
, vol.54
, pp. 110-115
-
-
Schols, L.1
Bauer, I.2
Zuhlke, C.3
Schulte, T.4
Kolmel, C.5
Burk, K.6
Topka, H.7
Bauer, P.8
Przuntek, H.9
Riess, O.10
-
39
-
-
0034700999
-
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan
-
Y Ikeda M Shizuka M Watanabe K Okamoto M Shoji 2000 Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan Neurology 54 950 955
-
(2000)
Neurology
, vol.54
, pp. 950-955
-
-
Ikeda, Y.1
Shizuka, M.2
Watanabe, M.3
Okamoto, K.4
Shoji, M.5
-
41
-
-
0033358555
-
Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3
-
PF Worth P Giunti C Gardner-Thorpe PH Dixon MB Davis NW Wood 1999 Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3 Am J Hum Gen 65 420 426
-
(1999)
Am J Hum Gen
, vol.65
, pp. 420-426
-
-
Worth, P.F.1
Giunti, P.2
Gardner-Thorpe, C.3
Dixon, P.H.4
Davis, M.B.5
Wood, N.W.6
-
42
-
-
0035852808
-
SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion
-
E O'Hearn SE Holmes PC Calvert CA Ross RL Margolis 2001 SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion Neurology 56 299 303
-
(2001)
Neurology
, vol.56
, pp. 299-303
-
-
O'Hearn, E.1
Holmes, S.E.2
Calvert, P.C.3
Ross, C.A.4
Margolis, R.L.5
-
44
-
-
27644586218
-
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14
-
S Klebe A Durr A Rentschler V Hahn-Barma M Abele N Bouslam L Schols P Jedynak S Forlani E Denis C Dussert Y Agid P Bauer C Globas U Wullner A Brice O Riess G Stevanin 2005 New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14 Ann Neurol 58 720 729
-
(2005)
Ann Neurol
, vol.58
, pp. 720-729
-
-
Klebe, S.1
Durr, A.2
Rentschler, A.3
Hahn-Barma, V.4
Abele, M.5
Bouslam, N.6
Schols, L.7
Jedynak, P.8
Forlani, S.9
Denis, E.10
Dussert, C.11
Agid, Y.12
Bauer, P.13
Globas, C.14
Wullner, U.15
Brice, A.16
Riess, O.17
Stevanin, G.18
-
45
-
-
0346734156
-
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
-
BP van de Warrenburg DS Verbeek SJ Piersma FA Hennekam PL Pearson NV Knoers HP Kremer RJ Sinke 2003 Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family Neurology 61 1760 1765
-
(2003)
Neurology
, vol.61
, pp. 1760-1765
-
-
Van De Warrenburg, B.P.1
Verbeek, D.S.2
Piersma, S.J.3
Hennekam, F.A.4
Pearson, P.L.5
Knoers, N.V.6
Kremer, H.P.7
Sinke, R.J.8
-
47
-
-
0035838438
-
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1
-
Y Miyoshi T Yamada M Tanimura T Taniwaki K Arakawa Y Ohyagi H Furuya K Yamamoto K Sakai T Sasazuki J Kira 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1 Neurology 57 96 100
-
(2001)
Neurology
, vol.57
, pp. 96-100
-
-
Miyoshi, Y.1
Yamada, T.2
Tanimura, M.3
Taniwaki, T.4
Arakawa, K.5
Ohyagi, Y.6
Furuya, H.7
Yamamoto, K.8
Sakai, K.9
Sasazuki, T.10
Kira, J.11
-
48
-
-
0842282678
-
SCA17 homozygote showing Huntington's disease-like phenotype
-
Y Toyoshima M Yamada O Onodera M Shimohata C Inenaga N Fujita M Morita S Tsuji H Takahashi 2004 SCA17 homozygote showing Huntington's disease-like phenotype Ann Neurol 55 281 286
-
(2004)
Ann Neurol
, vol.55
, pp. 281-286
-
-
Toyoshima, Y.1
Yamada, M.2
Onodera, O.3
Shimohata, M.4
Inenaga, C.5
Fujita, N.6
Morita, M.7
Tsuji, S.8
Takahashi, H.9
-
49
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
A Rolfs AH Koeppen I Bauer P Bauer S Buhlmann H Topka L Schols O Riess 2003 Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17) Ann Neurol 54 367 375
-
(2003)
Ann Neurol
, vol.54
, 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
-
50
-
-
24644471422
-
Putamen dopamine transporter and glucose metabolism are reduced in SCA17
-
M Minnerop A Joe M Lutz P Bauer H Urbach C Helmstaedter M Reinhardt T Klockgether U Wullner 2005 Putamen dopamine transporter and glucose metabolism are reduced in SCA17 Ann Neurol 58 490 491
-
(2005)
Ann Neurol
, vol.58
, pp. 490-491
-
-
Minnerop, M.1
Joe, A.2
Lutz, M.3
Bauer, P.4
Urbach, H.5
Helmstaedter, C.6
Reinhardt, M.7
Klockgether, T.8
Wullner, U.9
-
51
-
-
3442890310
-
Basal ganglia involvement of a patient with SCA 17 - A new form of autosomal dominant spinocerebellar ataxia
-
P Gunther A Storch J Schwarz O Sabri P Steinbach A Wagner S Hesse 2004 Basal ganglia involvement of a patient with SCA 17 - a new form of autosomal dominant spinocerebellar ataxia J Neurol 251 896 897
-
(2004)
J Neurol
, vol.251
, pp. 896-897
-
-
Gunther, P.1
Storch, A.2
Schwarz, J.3
Sabri, O.4
Steinbach, P.5
Wagner, A.6
Hesse, S.7
-
53
-
-
1542674538
-
SCA19 and SCA22: Evidence for one locus with a worldwide distribution
-
author reply E7
-
HJ Schelhaas DS Verbeek BP Van de Warrenburg RJ Sinke 2004 SCA19 and SCA22: Evidence for one locus with a worldwide distribution Brain 127 E6 author reply E7
-
(2004)
Brain
, vol.127
, pp. 6
-
-
Schelhaas, H.J.1
Verbeek, D.S.2
Van De Warrenburg, B.P.3
Sinke, R.J.4
-
54
-
-
17844365587
-
Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19)
-
HJ Schelhaas BP van de Warrenburg 2005 Clinical, psychological, and genetic characteristics of spinocerebellar ataxia type 19 (SCA19) Cerebellum 4 51 54
-
(2005)
Cerebellum
, vol.4
, pp. 51-54
-
-
Schelhaas, H.J.1
Van De Warrenburg, B.P.2
-
55
-
-
0037677603
-
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23
-
MY Chung YC Lu NC Cheng BW Soong 2003 A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23 Brain 126 1293 1299
-
(2003)
Brain
, vol.126
, pp. 1293-1299
-
-
Chung, M.Y.1
Lu, Y.C.2
Cheng, N.C.3
Soong, B.W.4
-
56
-
-
0035936608
-
Clinical features and genetic analysis of a new form of spinocerebellar ataxia
-
D Devos S Schraen-Maschke I Vuillaume K Dujardin P Naze C Willoteaux A Destee B Sablonniere 2001 Clinical features and genetic analysis of a new form of spinocerebellar ataxia Neurology 56 234 238
-
(2001)
Neurology
, vol.56
, pp. 234-238
-
-
Devos, D.1
Schraen-Maschke, S.2
Vuillaume, I.3
Dujardin, K.4
Naze, P.5
Willoteaux, C.6
Destee, A.7
Sablonniere, B.8
-
58
-
-
9144256120
-
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p
-
G Stevanin N Bouslam S Thobois H Azzedine L Ravaux A Boland M Schalling E Broussolle A Durr A Brice 2004 Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p Ann Neurol 55 97 104
-
(2004)
Ann Neurol
, vol.55
, 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
-
60
-
-
0037219826
-
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia (corrected)
-
JC van Swieten E Brusse BM de Graaf E Krieger R van de Graaf deI Koning A Maat-Kievit P Leegwater D Dooijes BA Oostra P Heutink 2003 A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia (corrected) Am J Hum Genet 72 191 199
-
(2003)
Am J Hum Genet
, vol.72
, pp. 191-199
-
-
Van Swieten, J.C.1
Brusse, E.2
De Graaf, B.M.3
Krieger, E.4
Van De Graaf, R.5
Dei, K.6
Maat-Kievit, A.7
Leegwater, P.8
Dooijes, D.9
Oostra, B.A.10
Heutink, P.11
-
61
-
-
30344475206
-
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2
-
C Cagnoli C Mariotti F Taroni M Seri A Brussino C Michielotto M Grisoli D Di Bella N Migone C Gellera S Di Donato A Brusco 2006 SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 Brain 129 235 242
-
(2006)
Brain
, vol.129
, pp. 235-242
-
-
Cagnoli, C.1
Mariotti, C.2
Taroni, F.3
Seri, M.4
Brussino, A.5
Michielotto, C.6
Grisoli, M.7
Di Bella, D.8
Migone, N.9
Gellera, C.10
Di Donato, S.11
Brusco, A.12
-
62
-
-
0031914409
-
Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease
-
O Onodera J Idezuka S Igarashi Y Takiyama K Endo H Takano M Oyake H Tanaka T Inuzuka T Hayashi T Yuasa J Ito T Miyatake S Tsuji 1998 Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado-Joseph disease Ann Neurol 43 288 296
-
(1998)
Ann Neurol
, vol.43
, pp. 288-296
-
-
Onodera, O.1
Idezuka, J.2
Igarashi, S.3
Takiyama, Y.4
Endo, K.5
Takano, H.6
Oyake, M.7
Tanaka, H.8
Inuzuka, T.9
Hayashi, T.10
Yuasa, T.11
Ito, J.12
Miyatake, T.13
Tsuji, S.14
-
63
-
-
33745677486
-
Scale for the assessment and rating of ataxia: Development of a new clinical scale
-
T Schmitz-Hubsch ST du Montcel L Baliko J Berciano S Boesch C Depondt P Giunti C Globas J Infante JS Kang B Kremer C Mariotti B Melegh M Pandolfo M Rakowicz P Ribai R Rola L Schols S Szymanski BP van de Warrenburg A Durr T Klockgether R Fancellu 2006 Scale for the assessment and rating of ataxia: Development of a new clinical scale Neurology 66 1717 1720
-
(2006)
Neurology
, vol.66
, pp. 1717-1720
-
-
Schmitz-Hubsch, T.1
Du Montcel, 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 Warrenburg, B.P.20
Durr, A.21
Klockgether, T.22
Fancellu, R.23
more..
-
64
-
-
33646918007
-
Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients
-
T Schmitz-Hubsch S Tezenas du Montcel L Baliko S Boesch S Bonato R Fancellu P Giunti C Globas JS Kang B Kremer C Mariotti B Melegh M Rakowicz R Rola S Romano L Schols S Szymanski BP van de Warrenburg E Zdzienicka A Durr T Klockgether 2006 Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients Mov Disord 21 699 704
-
(2006)
Mov Disord
, vol.21
, pp. 699-704
-
-
Schmitz-Hubsch, T.1
Tezenas Du Montcel, S.2
Baliko, L.3
Boesch, S.4
Bonato, S.5
Fancellu, R.6
Giunti, P.7
Globas, C.8
Kang, J.S.9
Kremer, B.10
Mariotti, C.11
Melegh, B.12
Rakowicz, M.13
Rola, R.14
Romano, S.15
Schols, L.16
Szymanski, S.17
Van De Warrenburg, B.P.18
Zdzienicka, E.19
Durr, A.20
Klockgether, T.21
more..
-
65
-
-
33645815670
-
Penguins and hummingbirds: Midbrain atrophy in progressive supranuclear palsy
-
K Gröschel A Kastrup I Litvan JB Schulz 2006 Penguins and hummingbirds: Midbrain atrophy in progressive supranuclear palsy Neurology 66 949 950
-
(2006)
Neurology
, vol.66
, pp. 949-950
-
-
Gröschel, K.1
Kastrup, A.2
Litvan, I.3
Schulz, J.B.4
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