-
1
-
-
1642490545
-
Handbook of ataxia disorders
-
New York, Marcel Dekker
-
Klockgether T: Handbook of ataxia disorders, Neurological Disease and Therapy, Vol 5. New York, Marcel Dekker, 2000
-
(2000)
Neurological Disease and Therapy
, vol.5
-
-
Klockgether, T.1
-
2
-
-
0242488608
-
The hereditary ataxias and related disorders
-
New York, Churchill Livingstone
-
Harding AE: The hereditary ataxias and related disorders, Clinical Neurology and Neurosurgery Monographs, Vol 6. New York, Churchill Livingstone, 1984
-
(1984)
Clinical Neurology and Neurosurgery Monographs
, vol.6
-
-
Harding, A.E.1
-
3
-
-
0035871295
-
Beyond the Qs in the polyglutamine diseases
-
Orr HT: Beyond the Qs in the polyglutamine diseases. Genes Dev 15:925-932, 2001
-
(2001)
Genes Dev
, vol.15
, pp. 925-932
-
-
Orr, H.T.1
-
4
-
-
0034094873
-
Glutamine repeats and neurode generation
-
Zoghbi HY, Orr HT: Glutamine repeats and neurodegeneration. Ann Rev Neurosci 23:217-247, 2000
-
(2000)
Ann Rev Neurosci
, vol.23
, pp. 217-247
-
-
Zoghbi, H.Y.1
Orr, H.T.2
-
5
-
-
0036787671
-
siRNA-mediated gene silencing in vitro and in vivo
-
Xia H, Mao Q, Paulson HL, et al: siRNA-mediated gene silencing in vitro and in vivo. Nat Biotechnol 20:1006-1010, 2002
-
(2002)
Nat Biotechnol
, vol.20
, pp. 1006-1010
-
-
Xia, H.1
Mao, Q.2
Paulson, H.L.3
-
6
-
-
9244229051
-
Unstable triple repeat and phenotypic variability in spinocerebellar ataxia 1
-
Goldfarb LG, Vasconclos O, Platanov FA, et al: Unstable triple repeat and phenotypic variability in spinocerebellar ataxia 1. Ann Neurol 39:500-506, 1996
-
(1996)
Ann Neurol
, vol.39
, pp. 500-506
-
-
Goldfarb, L.G.1
Vasconclos, O.2
Platanov, F.A.3
-
7
-
-
0033401393
-
Dominantly inherited ataxias
-
Subramony SH: Dominantly inherited ataxias. Sem Neurol 19:419-425, 1999
-
(1999)
Sem Neurol
, vol.19
, pp. 419-425
-
-
Subramony, S.H.1
-
8
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M, Banfi S, et al: Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221-226, 1993
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.2
Banfi, S.3
-
10
-
-
0032475941
-
Ataxia-1 nuclear localization and aggregation: Role in polyglutamine-induced disease in SCA I transgenic mice
-
Klement IA, Skinner PH, Kaytor MD, et al: Ataxia-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA I transgenic mice. Cell 95:41-53, 1998
-
(1998)
Cell
, vol.95
, pp. 41-53
-
-
Klement, I.A.1
Skinner, P.H.2
Kaytor, M.D.3
-
11
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba
-
Diaz OG, Fleites AN, Sagaz RC, et al: Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology 40:1369-1375, 1990
-
(1990)
Neurology
, vol.40
, pp. 1369-1375
-
-
Diaz, O.G.1
Fleites, A.N.2
Sagaz, R.C.3
-
12
-
-
0031683168
-
Autosomal dominant cerebellar ataxia type 1. MRI-based columetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3
-
Klockgether T, Skalej M, Wedekind D, et al: Autosomal dominant cerebellar ataxia type 1. MRI-based columetry of posterior fossa structures and basal ganglia in spinocerebellar ataxia types 1, 2 and 3. Brain 121:1687-1693, 1998
-
(1998)
Brain
, vol.121
, pp. 1687-1693
-
-
Klockgether, T.1
Skalej, M.2
Wedekind, D.3
-
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. et al: Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285-289, 1996
-
(1996)
Nat Genet
, vol.14
, pp. 285-289
-
-
Imbert, G.1
Saudou, F.2
Yvert, G.3
-
14
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst S-M, Nechiporuk A, Nechiporuk T, et al: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269-276, 1996
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.-M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
15
-
-
0030292368
-
Identification of spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei K, Takano H, Igarashi S, et al: Identification of spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14:277-284, 1996
-
(1996)
Nat Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
Takano, H.2
Igarashi, S.3
-
16
-
-
0027356605
-
Epidemiology and clinical aspects of Machado-Joseph disease
-
Harding, AE, Duefel T (eds). New York: Raven Press
-
Sequiros J, Coutinho P: Epidemiology and clinical aspects of Machado-Joseph disease, Harding, AE, Duefel T (eds): Advances in Neurology. New York: Raven Press, 1993, pp 139-153
-
(1993)
Advances in Neurology
, pp. 139-153
-
-
Sequiros, J.1
Coutinho, P.2
-
17
-
-
2642589007
-
Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically determined subtypes?
-
Schols L, Amoroides G, Buttner T, et al: Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically determined subtypes? Ann Neurol 42:924-932, 1997
-
(1997)
Ann Neurol
, vol.42
, pp. 924-932
-
-
Schols, L.1
Amoroides, G.2
Buttner, T.3
-
18
-
-
0028143527
-
CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, et al: CAG expansion in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8:221-228, 1994
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
19
-
-
0033071176
-
Protein fate in neurodegenerative proteinopathies: Polyglutamine diseases join the (mis)fold
-
Paulson HL: Protein fate in neurodegenerative proteinopathies: Polyglutamine diseases join the (mis)fold. Am J Hum Genet 64:339-345, 1999
-
(1999)
Am J Hum Genet
, vol.64
, pp. 339-345
-
-
Paulson, H.L.1
-
20
-
-
0031454530
-
Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
-
Gomez CM, Thompsom RM, Gammack JT, et al: Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol 42:933-950, 1997
-
(1997)
Ann Neurol
, vol.42
, pp. 933-950
-
-
Gomez, C.M.1
Thompsom, R.M.2
Gammack, J.T.3
-
21
-
-
4243341823
-
2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6
-
2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6. J Neurosci 19:RC14:1-5, 1999
-
(1999)
J Neurosci
, vol.19
, Issue.RC14
, pp. 1-5
-
-
Matsuyama, Z.1
Wakamori, M.2
Mori, Y.3
-
22
-
-
0032769095
-
Abundant expression an cytoplasmic aggregation of alpha IA voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6
-
Ishikawa K, Fujigasaki H, Saegusa H, et al: Abundant expression an cytoplasmic aggregation of alpha IA voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6. Hum Mol Genet 8:1185-1193, 1999
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1185-1193
-
-
Ishikawa, K.1
Fujigasaki, H.2
Saegusa, H.3
-
23
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David G, Durr A, Stevanin G, et al: Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 7:165-170, 1998
-
(1998)
Hum Mol Genet
, vol.7
, pp. 165-170
-
-
David, G.1
Durr, A.2
Stevanin, G.3
-
24
-
-
7144229376
-
Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with intranuclear inclusions
-
Holmberg M, Duysckaerts C, Durr A, et al: Spinocerebellar ataxia type 7 (SCA7): A neurodegenerative disorder with intranuclear inclusions. Hum Mol Genet 7:913-918, 1998
-
(1998)
Hum Mol Genet
, vol.7
, pp. 913-918
-
-
Holmberg, M.1
Duysckaerts, C.2
Durr, A.3
-
25
-
-
0035393427
-
SCA 17, a novel autosomal dominant ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong S-Y, Uchihara T, et al: SCA 17, a novel autosomal dominant ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10:1441-1448, 2001
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.-Y.2
Uchihara, T.3
-
26
-
-
0035076389
-
Different types of repeat expansion in TATA-binding protein gene are associated with a new form of inherited ataxia
-
Zuhlke C, Hellenbroich Y, Dalski A. et al: Different types of repeat expansion in TATA-binding protein gene are associated with a new form of inherited ataxia. Eur J Hum Genet 9:160-164, 2001
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 160-164
-
-
Zuhlke, C.1
Hellenbroich, Y.2
Dalski, A.3
-
27
-
-
0028335386
-
Dentatorutral and pallidoluysian atrophy expansion of an unstable GAG trinucleotide of chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K. et al: Dentatorutral and pallidoluysian atrophy expansion of an unstable GAG trinucleotide of chromosome 12p. Nat Genet 6:14-18, 1994
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
-
28
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
Koch MD, Moseley ML, Schut LJ, et al: An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379-384, 1999
-
(1999)
Nat Genet
, vol.21
, pp. 379-384
-
-
Koch, M.D.1
Moseley, M.L.2
Schut, L.J.3
-
29
-
-
0034007097
-
Large expanded repeats in SCA8 are not confined to patients with cerebellar ataxia
-
Worth PF, Houlden H, Giumi P, et al: Large expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. Nat Genet 24:214-215. 2000
-
(2000)
Nat Genet
, vol.24
, pp. 214-215
-
-
Worth, P.F.1
Houlden, H.2
Giumi, P.3
-
30
-
-
0034008007
-
Are (CTG) expansions at the SCA8 locus rare polymorphisms?
-
Stevanin G, Herman A, Durr A, et al: Are (CTG) expansions at the SCA8 locus rare polymorphisms? Nat Genet 24:213, 2000
-
(2000)
Nat Genet
, vol.24
, pp. 213
-
-
Stevanin, G.1
Herman, A.2
Durr, A.3
-
31
-
-
0036591663
-
Dominantly inherited, non-coding microsatellite expansion disorders
-
Ranum LP, Day JW: Dominantly inherited, non-coding microsatellite expansion disorders. Curr Opin Genet Dev 12:266-271, 2002
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 266-271
-
-
Ranum, L.P.1
Day, J.W.2
-
32
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T, Yamagata T, Burgess DL, et al: Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191-194, 2000
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
-
33
-
-
0037177096
-
Spinocerebellar ataxia type 10 is rare in populations other than Mexicans
-
Matsuura T, Ranum LPW, Volpini V, et al: Spinocerebellar ataxia type 10 is rare in populations other than Mexican. Neurology 58:983-984, 2002
-
(2002)
Neurology
, vol.58
, pp. 983-984
-
-
Matsuura, T.1
Ranum, L.P.W.2
Volpini, V.3
-
34
-
-
0035503214
-
SCA 12: An unusual mutation leads to an unusual spinocerebellar ataxia
-
Holmes SE, Hearn EO, Ross CA, et al: SCA 12: An unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res Bull 56:397-403, 2001
-
(2001)
Brain Res Bull
, vol.56
, pp. 397-403
-
-
Holmes, S.E.1
Hearn, E.O.2
Ross, C.A.3
-
35
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene KCNA 1
-
Browne DL, Gancher ST, Nutt JG, et al: Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene KCNA1. Nat Genet 8:136-140, 1994
-
(1994)
Nat Genet
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
-
36
-
-
0035139497
-
The inherited episodic ataxias: How well do we understand the disease: Mechanisms?
-
Kullmann DM, Rea R, Spaschus A, et al: The inherited episodic ataxias: How well do we understand the disease: mechanisms? Neuroscientist 7:80-88, 2001
-
(2001)
Neuroscientist
, vol.7
, pp. 80-88
-
-
Kullmann, D.M.1
Rea, R.2
Spaschus, A.3
-
38
-
-
0033866835
-
A novel locus for dominant ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
-
Yamashita I, Sasaki H, Fukazawa T, et al: A novel locus for dominant ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 48:156-163, 2000
-
(2000)
Ann Neurol
, vol.48
, pp. 156-163
-
-
Yamashita, I.1
Sasaki, H.2
Fukazawa, T.3
-
39
-
-
0037385006
-
Missense mutations in the regulatory domain of PKCγ: A new mechanism for dominant nonepisodic cerebellar ataxia
-
Chen D-H, Brkanac Z, Verlinde CLMJ, et al: Missense mutations in the regulatory domain of PKCγ: A new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 72:839-849, 2003
-
(2003)
Am J Hum Genet
, vol.72
, pp. 839-849
-
-
Chen, D.-H.1
Brkanac, Z.2
Verlinde, C.L.M.J.3
-
40
-
-
0037219826
-
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia
-
van Swieten JC, Brusse E, de Graaf BM, et al: A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia. Am J Hum Genet 72:191-199, 2003
-
(2003)
Am J Hum Genet
, vol.72
, pp. 191-199
-
-
Van Swieten, J.C.1
Brusse, E.2
De Graaf, B.M.3
-
41
-
-
0029792130
-
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1
-
Flanigan K, Gardner K, Alderson K, et al: Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet 59:392-399, 1996
-
(1996)
Am J Hum Genet
, vol.59
, pp. 392-399
-
-
Flanigan, K.1
Gardner, K.2
Alderson, K.3
-
42
-
-
0028020605
-
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11
-
Ranum LPW, Schut LJ, Lundgren JK, et al: Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 8:280-284. 1994
-
(1994)
Nat Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.W.1
Schut, L.J.2
Lundgren, J.K.3
-
43
-
-
0033358555
-
Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q13-21,3
-
Worth PF, Giunti P, Gardner-Thorpe C, et al: Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q13-21,3. Am J Hum Genet 65:420-426, 1999
-
(1999)
Am J Hum Genet
, vol.65
, pp. 420-426
-
-
Worth, P.F.1
Giunti, P.2
Gardner-Thorpe, C.3
-
44
-
-
0033910529
-
Mapping of the spinocerebellar ataxia 13 to chromosome 19q13.3-q 13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
-
Herman-Bert A, Stevanin G, Netter JC, et al: Mapping of the spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet 67:229-235, 2000
-
(2000)
Am J Hum Genet
, vol.67
, pp. 229-235
-
-
Herman-Bert, A.1
Stevanin, G.2
Netter, J.C.3
-
45
-
-
0035838438
-
A novel spinocerebellar ataxia (SCA 16) linked to chromosome 8q22.1-24.1
-
Miyoshi Y, Yamada T, Tanimura M, et al: A novel spinocerebellar ataxia (SCA 16) linked to chromosome 8q22.1-24.1. Neurology 57:96-100, 2001
-
(2001)
Neurology
, vol.57
, pp. 96-100
-
-
Miyoshi, Y.1
Yamada, T.2
Tanimura, M.3
-
46
-
-
0037042098
-
Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): Linkage to chromosome 7q22-q32
-
Brkanac Z, Fernandez M, Matsushita M, et al: Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): Linkage to chromosome 7q22-q32. Am J Med Genet 114:450-457, 2002
-
(2002)
Am J Med Genet
, vol.114
, pp. 450-457
-
-
Brkanac, Z.1
Fernandez, M.2
Matsushita, M.3
-
47
-
-
0035085368
-
Clinical and genetic analysis of a four-generation family with distinct autosomal dominant cerebellar ataxia
-
Schelhaas HJ, Ippel PF, Hageman G, et al: Clinical and genetic analysis of a four-generation family with distinct autosomal dominant cerebellar ataxia. J Neurol 248:113-120, 2001
-
(2001)
J Neurol
, vol.248
, pp. 113-120
-
-
Schelhaas, H.J.1
Ippel, P.F.2
Hageman, G.3
-
48
-
-
0035936608
-
Clinical features and genetic analysis of a new form of spinocerebellar ataxia
-
Devos S, Schraen-Maschke S, Vuillaume I, et al: Clinical features and genetic analysis of a new form of spinocerebellar ataxia. Neurology 56:234-238, 2001
-
(2001)
Neurology
, vol.56
, pp. 234-238
-
-
Devos, S.1
Schraen-Maschke, S.2
Vuillaume, I.3
|