-
1
-
-
0040920369
-
-
John Hopkins University: Spinocerebellar Ataxia 1, Available at Accessed November 10, 2008
-
Online Mendelian Inheritance in Man. John Hopkins University: Spinocerebellar Ataxia 1, 1986. Available at www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=164400. Accessed November 10, 2008.
-
(1986)
Online Mendelian Inheritance in Man
-
-
-
2
-
-
0040920369
-
-
John Hopkins University: Spinocerebellar Ataxia 2, Available at: Accessed November 10, 2008
-
Online Mendelian Inheritance in Man. John Hopkins University: Spinocerebellar Ataxia 2, 1993. Available at: www.ncbi.nlm.nih.gov/entrez/ dispomim.cgi?id=183090. Accessed November 10, 2008.
-
(1993)
Online Mendelian Inheritance in Man
-
-
-
3
-
-
84860200503
-
Pathology of degenerative diseases of the nervous system
-
Gray F, De Girolami U, Poirer J, eds. 4th ed. Philadelphia, PA: Butterworth Heinemann
-
Lowe J, Duyckaerts C, Frosch MP. Pathology of degenerative diseases of the nervous system. In: Gray F, De Girolami U, Poirer J, eds. Escourolle & Poirier Manual of Basic Neuropathology. 4th ed. Philadelphia, PA: Butterworth Heinemann; 2004:185-188.
-
(2004)
Escourolle & Poirier Manual of Basic Neuropathology
, pp. 185-188
-
-
Lowe, J.1
Duyckaerts, C.2
Frosch, M.P.3
-
4
-
-
0024997225
-
Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba
-
Orozco DG, Nodarse FA, Cordovés SR, et al. Autosomal dominant cerebellar ataxia: Clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology. 1990;40:1369-1375.
-
(1990)
Neurology
, vol.40
, pp. 1369-1375
-
-
Orozco, D.G.1
Nodarse, F.A.2
Cordovés, S.R.3
-
5
-
-
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
-
7
-
-
0242389723
-
Dominant spinocerebellar ataxias: A molecular approach to classification, diagnosis, pathogenesis and the future
-
Margolis RL. Dominant spinocerebellar ataxias: A molecular approach to classification, diagnosis, pathogenesis and the future. Expert Rev Mol Diagn. 2003;3:715-732.
-
(2003)
Expert Rev Mol Diagn
, vol.3
, pp. 715-732
-
-
Margolis, R.L.1
-
8
-
-
18444411305
-
Childhood-onset ataxia: Testing for large CAG-repeats in SCA2 and SCA7
-
DOI 10.1002/ajmg.10467
-
Mao R, Aylsworth AS, Potter N, et al. Childhood-onset ataxia: Testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet. 2002;110:338-345. (Pubitemid 34701048)
-
(2002)
American Journal of Medical Genetics
, vol.110
, Issue.4
, pp. 338-345
-
-
Mao, R.1
Aylsworth, A.S.2
Potter, N.3
Wilson, W.G.4
Breningstall, G.5
Wick, M.J.6
Babovic-Vuksanovic, D.7
Nance, M.8
Patterson, M.C.9
Gomez, C.M.10
Snow, K.11
-
9
-
-
0032511743
-
Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion
-
DOI 10.1002/(SICI)1096-8628(19981012)79:5<383::AID-AJMG10>3.0.CO;2- N
-
Babovic-Vuksanovic D, Snow K, Patterson M, et al. Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion. Am J Med Genet. 1998;79:383-387. (Pubitemid 28445450)
-
(1998)
American Journal of Medical Genetics
, vol.79
, Issue.5
, pp. 383-387
-
-
Babovic-Vuksanovic, D.1
Snow, K.2
Patterson, M.C.3
Michels, V.V.4
-
10
-
-
0942268994
-
Spinocerebellar Ataxia Type 2 (SCA2) Presenting with Ophthalmoplegia and Developmental Delay in Infancy
-
Moretti P, Blazo M, Garcia L, et al. Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am J Med Genet. 2004;124A:392-396. (Pubitemid 38141382)
-
(2004)
American Journal of Medical Genetics
, vol.124 A
, Issue.4
, pp. 392-396
-
-
Moretti, P.1
Blazo, M.2
Garcia, L.3
Armstrong, D.4
Lewis, R.A.5
Roa, B.6
Scaglia, F.7
-
11
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
DOI 10.1016/S1474-4422(04)00737-9, PII S1474442204007379
-
Schols L, Bauer P, Schmidt T, et al. Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis. Lancet Neurol. 2004;3:291-304. (Pubitemid 38510200)
-
(2004)
Lancet Neurology
, vol.3
, Issue.5
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
12
-
-
0032958984
-
Spinocerebellar ataxia type 2: Clinical features of a pedigree displaying prominent frontal-executive dysfunction
-
DOI 10.1001/archneur.56.1.43
-
Storey E, Forrest SM, Shaw JH, et al. Spinocerebellar ataxia type 2: Clinical features of a pedigree displaying prominent frontal-executive dysfunction. Arch Neurol. 1999;56:43-50. (Pubitemid 29046908)
-
(1999)
Archives of Neurology
, vol.56
, Issue.1
, pp. 43-50
-
-
Storey, E.1
Forrest, S.M.2
Shaw, J.H.3
Mitchell, P.4
Gardner, R.J.M.5
-
13
-
-
33749829704
-
The contactin 4 gene locus at 3p26 is a candidate gene of SCA16
-
DOI 10.1212/01.wnl.0000238510.84932.82, PII 0000611420061010000026
-
Miura S, Shibata H, Furuya H, et al. The contactin 4 gene locus at 3p26 is a candidate gene of SCA16. Neurology. 2006;67:1236-1241. (Pubitemid 44563834)
-
(2006)
Neurology
, vol.67
, Issue.7
, pp. 1236-1241
-
-
Miura, S.1
Shibata, H.2
Furuya, H.3
Ohyagi, Y.4
Osoegawa, M.5
Miyoshi, Y.6
Matsunaga, H.7
Shibata, A.8
Matsumoto, N.9
Iwaki, A.10
Taniwaki, T.11
Kikuchi, H.12
Kira, J.13
Fukumaki, Y.14
-
14
-
-
31744441984
-
Spectrin mutations cause spinocerebellar ataxia type 5
-
Ikeda Y, Dick KA, Weatherspoon MR, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet. 2006;38:184-190.
-
(2006)
Nat Genet
, vol.38
, pp. 184-190
-
-
Ikeda, Y.1
Dick, K.A.2
Weatherspoon, M.R.3
-
15
-
-
0032900772
-
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
-
Koob MD, Moseley ML, Schut LJ, et al. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet. 1999;21:379-384.
-
(1999)
Nat Genet
, vol.21
, pp. 379-384
-
-
Koob, M.D.1
Moseley, M.L.2
Schut, L.J.3
-
16
-
-
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. 2000;26:191-194.
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
-
17
-
-
36549023424
-
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
-
DOI 10.1038/ng.2007.43, PII NG200743
-
Houlden H, Johnson J, Gardner-Thorpe C, et al. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007;39:1434-1436. (Pubitemid 350191351)
-
(2007)
Nature Genetics
, vol.39
, Issue.12
, pp. 1434-1436
-
-
Houlden, H.1
Johnson, J.2
Gardner-Thorpe, C.3
Lashley, T.4
Hernandez, D.5
Worth, P.6
Singleton, A.B.7
Hilton, D.A.8
Holton, J.9
Revesz, T.10
Davis, M.B.11
Giunti, P.12
Wood, N.W.13
-
18
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12
-
Holmes SE, O'Hearn EE, McInnis MG, et al. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet. 1999;23:391-392.
-
(1999)
Nat Genet
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
-
19
-
-
33645421783
-
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes
-
Waters MF, Minassian NA, Stevanin G, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes. Nat Genet. 2006;38:447-451.
-
(2006)
Nat Genet
, vol.38
, pp. 447-451
-
-
Waters, M.F.1
Minassian, N.A.2
Stevanin, G.3
-
20
-
-
0037385006
-
Missense mutations in the regulatory domain of PKC-gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
-
Chen DH, Brkanac Z, Verlinde CLMJ, et al. Missense mutations in the regulatory domain of PKC-gamma: A new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003;72:839-849.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 839-849
-
-
Chen, D.H.1
Brkanac, Z.2
Clmj, V.3
-
21
-
-
33646448422
-
Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population
-
Wieczorek S, Arning L, Alheite I, et al. Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. J Hum Genet. 2006;51:363-367.
-
(2006)
J Hum Genet
, vol.51
, pp. 363-367
-
-
Wieczorek, S.1
Arning, L.2
Alheite, I.3
-
22
-
-
0037219826
-
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral ataxia
-
DOI 10.1086/345488
-
van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet. 2003;72:191-199. (Pubitemid 36056856)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.1
, pp. 191-199
-
-
Van Swieten, J.C.1
Brusse, E.2
De Graaf, B.M.3
Krieger, E.4
Van De Graaf, R.5
De Koning, I.6
Maat-Kievit, A.7
Leegwater, P.8
Dooijes, D.9
Oostra, B.A.10
Heutink, P.11
-
23
-
-
70349742572
-
The molecular and biochemical basis of genetic disease
-
Nussbaum RL, McInnes RR, Willard HF, eds. 6th ed. Philadelphia, PA: WB Saunders
-
Nussbaum RL, McInnes RR, Willard HF. The molecular and biochemical basis of genetic disease. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine, 6th ed. Philadelphia, PA: WB Saunders; 2001:236-244.
-
(2001)
Thompson & Thompson Genetics in Medicine
, pp. 236-244
-
-
Nussbaum, R.L.1
McInnes, R.R.2
Willard, H.F.3
-
24
-
-
0030292488
-
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
-
Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996;14:269-276.
-
(1996)
Nat Genet
, vol.14
, pp. 269-276
-
-
Pulst, S.M.1
Nechiporuk, A.2
Nechiporuk, T.3
-
25
-
-
0036203833
-
Triplet repeat DNA structures and human genetic disease: Dynamic mutations from dynamic DNA
-
Sinden RR, Potaman VN, Oussatcheva EA, et al. Triplet repeat DNA structures and human genetic disease: Dynamic mutations from dynamic DNA. J Biosci. 2002;27:53-65.
-
(2002)
J Biosci
, vol.27
, pp. 53-65
-
-
Sinden, R.R.1
Potaman, V.N.2
Oussatcheva, E.A.3
-
26
-
-
0031970977
-
The fatal attraction of polyglutamine-containing proteins
-
Hackam AS, Wellington CL, Hayden MR. The fatal attraction of polyglutamine-containing proteins. Clin Genet. 1998;53:233-242.
-
(1998)
Clin Genet
, vol.53
, pp. 233-242
-
-
Hackam, A.S.1
Wellington, C.L.2
Hayden, M.R.3
-
27
-
-
0033811788
-
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human
-
Huynh DP, Figueroa K, Hoang N, et al. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet. 2000;26:44-50.
-
(2000)
Nat Genet
, vol.26
, pp. 44-50
-
-
Huynh, D.P.1
Figueroa, K.2
Hoang, N.3
-
28
-
-
0032475877
-
Nuclear inclusions in glutamine repeat disorders: Are they pernicious, coincidental, or beneficial?
-
Sisodia SS. Nuclear inclusions in glutamine repeat disorders: Are they pernicious, coincidental, or beneficial? Cell. 1998;95:1-4.
-
(1998)
Cell
, vol.95
, pp. 1-4
-
-
Sisodia, S.S.1
-
29
-
-
8744271324
-
Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia
-
Ciotti P, Di Maria E, Bellone E, et al. Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia. J Mol Diagn. 2004;6:285-289. (Pubitemid 39517395)
-
(2004)
Journal of Molecular Diagnostics
, vol.6
, Issue.4
, pp. 285-289
-
-
Ciotti, P.1
Di Maria, E.2
Bellone, E.3
Ajmar, F.4
Mandich, P.5
|