-
1
-
-
74149089305
-
Huntington's disease-like and ataxia syndromes: Identification of a family with a de novo SCA17/TBP mutation
-
Bech S, Petersen T, Norremolle A, Gjedde A, Ehlers L, et al. (2010) Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. Parkinsonism Relat Disord 16: 12-15.
-
(2010)
Parkinsonism Relat Disord
, vol.16
, pp. 12-15
-
-
Bech, S.1
Petersen, T.2
Norremolle, A.3
Gjedde, A.4
Ehlers, L.5
-
2
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, et al. (2001) SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10: 1441-1448.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
-
3
-
-
12144286184
-
Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's diseaselike phenotype
-
Bauer P, Laccone F, Rolfs A, Wullner U, Bosch S, et al. (2004) Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's diseaselike phenotype. J Med Genet 41: 230-232.
-
(2004)
J Med Genet
, vol.41
, pp. 230-232
-
-
Bauer, P.1
Laccone, F.2
Rolfs, A.3
Wullner, U.4
Bosch, S.5
-
4
-
-
0142248484
-
Dementia, ataxia, extrapyramidal features, and epilepsy: Phenotype spectrum in two Italian families with spinocerebellar ataxia type 17
-
De Michele G, Maltecca F, Carella M, Volpe G, Orio M, et al. (2003) Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17. Neurol Sci 24: 166-167.
-
(2003)
Neurol Sci
, vol.24
, pp. 166-167
-
-
De Michele, G.1
Maltecca, F.2
Carella, M.3
Volpe, G.4
Orio, M.5
-
5
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
-
Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, et al. (1999) A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 8: 2047-2053.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
Ikeuchi, T.4
Maruyama, M.5
-
6
-
-
65849116838
-
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4)
-
Stevanin G, Brice A (2008) Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). Cerebellum 7: 170-178.
-
(2008)
Cerebellum
, vol.7
, pp. 170-178
-
-
Stevanin, G.1
Brice, A.2
-
7
-
-
0042837890
-
Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)
-
Rolfs A, Koeppen AH, Bauer I, Bauer P, Buhlmann S, et al. (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
-
8
-
-
4043175666
-
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation
-
Bruni AC, Takahashi-Fujigasaki J, Maltecca F, Foncin JF, Servadio A, et al. (2004) Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation. Arch Neurol 61: 1314-1320.
-
(2004)
Arch Neurol
, vol.61
, pp. 1314-1320
-
-
Bruni, A.C.1
Takahashi-Fujigasaki, J.2
Maltecca, F.3
Foncin, J.F.4
Servadio, A.5
-
9
-
-
33749265306
-
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)
-
Lasek K, Lencer R, Gaser C, Hagenah J, Walter U, et al. (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
-
10
-
-
77955494367
-
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17
-
Reetz K, Lencer R, Hagenah JM, Gaser C, Tadic V, et al. (2010) Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. Cerebellum 9: 210-217.
-
(2010)
Cerebellum
, vol.9
, pp. 210-217
-
-
Reetz, K.1
Lencer, R.2
Hagenah, J.M.3
Gaser, C.4
Tadic, V.5
-
11
-
-
36549002245
-
Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein
-
Zuhlke C, Burk K (2007) Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein. Cerebellum. pp 1-8.
-
(2007)
Cerebellum
, pp. 1-8
-
-
Zuhlke, C.1
Burk, K.2
-
12
-
-
0343820077
-
Clinical and molecular advances in autosomal dominant cerebellar ataxias: From genotype to phenotype and physiopathology
-
Stevanin G, Durr A, Brice A (2000) Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet 8: 4-18.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 4-18
-
-
Stevanin, G.1
Durr, A.2
Brice, A.3
-
13
-
-
70349962976
-
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6
-
Schulz JB, Borkert J, Wolf S, Schmitz-Hubsch T, Rakowicz M, et al. (2010) Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6. Neuroimage 49: 158-168.
-
(2010)
Neuroimage
, vol.49
, pp. 158-168
-
-
Schulz, J.B.1
Borkert, J.2
Wolf, S.3
Schmitz-Hubsch, T.4
Rakowicz, M.5
-
14
-
-
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
-
Onodera O, Idezuka J, Igarashi S, Takiyama Y, Endo K, et al. (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
-
15
-
-
0031683168
-
Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3
-
Klockgether T, Skalej M, Wedekind D, Luft AR, Welte D, et al. (1998) Autosomal dominant cerebellar ataxia type I. MRI-based volumetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain 121 (Pt 9): 1687-1693.
-
(1998)
Brain
, vol.121
, Issue.PART 9
, pp. 1687-1693
-
-
Klockgether, T.1
Skalej, M.2
Wedekind, D.3
Luft, A.R.4
Welte, D.5
-
16
-
-
27744574750
-
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England
-
Craig K, Keers SM, Walls TJ, Curtis A, Chinnery PF (2005) Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. J Neurol Sci 239: 105-109.
-
(2005)
J Neurol Sci
, vol.239
, pp. 105-109
-
-
Craig, K.1
Keers, S.M.2
Walls, T.J.3
Curtis, A.4
Chinnery, P.F.5
-
17
-
-
10744221735
-
Intergenerational instability and marked anticipation in SCA-17
-
Maltecca F, Filla A, Castaldo I, Coppola G, Fragassi NA, et al. (2003) Intergenerational instability and marked anticipation in SCA-17. Neurology 61: 1441-1443.
-
(2003)
Neurology
, vol.61
, pp. 1441-1443
-
-
Maltecca, F.1
Filla, A.2
Castaldo, I.3
Coppola, G.4
Fragassi, N.A.5
-
18
-
-
0842282678
-
SCA17 homozygote showing Huntington's disease-like phenotype
-
Toyoshima Y, Yamada M, Onodera O, Shimohata M, Inenaga C, et al. (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
-
19
-
-
58149308310
-
Spinocerebellar ataxias types 1, 2 and 3: Age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths
-
Netravathi M, Pal PK, Purushottam M, Thennarasu K, Mukherjee M, et al. (2009) Spinocerebellar ataxias types 1, 2 and 3: age adjusted clinical severity of disease at presentation correlates with size of CAG repeat lengths. J Neurol Sci 277: 83-86.
-
(2009)
J Neurol Sci
, vol.277
, pp. 83-86
-
-
Netravathi, M.1
Pal, P.K.2
Purushottam, M.3
Thennarasu, K.4
Mukherjee, M.5
-
20
-
-
0016823810
-
"Mini-mental state". A practical method for grading the cognitive state of patients for the clinician
-
Folstein MF, Folstein SE, McHugh PR (1975) "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12: 189-198.
-
(1975)
J Psychiatr Res
, vol.12
, pp. 189-198
-
-
Folstein, M.F.1
Folstein, S.E.2
McHugh, P.R.3
-
21
-
-
0034694856
-
Ethical principles for medical research involving human subjects
-
Helsinki WMADo (2000) Ethical principles for medical research involving human subjects. JAMA 284: 3043-3045.
-
(2000)
JAMA
, vol.284
, pp. 3043-3045
-
-
Do Helsinki, W.M.A.1
-
23
-
-
0041669248
-
An automated method for neuroanatomic and cytoarchitectonic atlas-based interrogation of fMRI data sets
-
Maldjian JA, Laurienti PJ, Kraft RA, Burdette JH (2003) An automated method for neuroanatomic and cytoarchitectonic atlas-based interrogation of fMRI data sets. Neuroimage 19: 1233-1239.
-
(2003)
Neuroimage
, vol.19
, pp. 1233-1239
-
-
Maldjian, J.A.1
Laurienti, P.J.2
Kraft, R.A.3
Burdette, J.H.4
|