-
1
-
-
76549233060
-
Cerebellar-macular abiotrophy
-
Havener WH. Cerebellar-macular abiotrophy. Arch Ophthalmol 45: 40-43, 1951.
-
(1951)
Arch Ophthalmol
, vol.45
, pp. 40-43
-
-
Havener, W.H.1
-
2
-
-
0002358512
-
Autosomal dominant cerebellar ataxia of late onset
-
Churchill Livingston, New York
-
Harding A. Autosomal dominant cerebellar ataxia of late onset. in: The Hereditary Ataxias and Related Disorders. Churchill Livingston, New York, 1984: 129-173.
-
(1984)
The Hereditary Ataxias and Related Disorders
, pp. 129-173
-
-
Harding, A.1
-
3
-
-
0029031694
-
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
-
Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet 10: 84-93, 1995.
-
(1995)
Nat Genet
, vol.10
, pp. 84-93
-
-
Benomar, A.1
Krols, L.2
Stevanin, G.3
-
4
-
-
0029048660
-
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
-
Guow LG, Kaplan CD, Heines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 10: 89-93, 1995.
-
(1995)
Nat Genet
, vol.10
, pp. 89-93
-
-
Guow, L.G.1
Kaplan, C.D.2
Heines, J.H.3
-
5
-
-
0029117960
-
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
-
Holmberg M, Johansson J, Forsgren J, Heijbel J, Sandgren O, Holmgren G. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 4: 1441-1445, 1995.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1441-1445
-
-
Holmberg, M.1
Johansson, J.2
Forsgren, J.3
Heijbel, J.4
Sandgren, O.5
Holmgren, G.6
-
6
-
-
16944364511
-
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
-
David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17: 65-70, 1997.
-
(1997)
Nat Genet
, vol.17
, pp. 65-70
-
-
David, G.1
Abbas, N.2
Stevanin, G.3
-
7
-
-
0006379804
-
A Japanese family of spinocerebellar ataxia type 7 (SCA7)
-
in Japanese
-
Adahci Y, Ohta M, Mori M, Nakajima K. A Japanese family of spinocerebellar ataxia type 7 (SCA7). Neurol Med 49: 303-304, 1998 (in Japanese).
-
(1998)
Neurol Med
, vol.49
, pp. 303-304
-
-
Adahci, Y.1
Ohta, M.2
Mori, M.3
Nakajima, K.4
-
8
-
-
0033778477
-
Macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families
-
Abe T, Tsuda T, Yoshida M, et al. Macular degeneration associated with aberrant expansion of trinucleotide repeat of the SCA7 gene in 2 Japanese families. Arch Ophthalmol 118: 1415-1421, 2000.
-
(2000)
Arch Ophthalmol
, vol.118
, pp. 1415-1421
-
-
Abe, T.1
Tsuda, T.2
Yoshida, M.3
-
9
-
-
6844254538
-
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)
-
David G, Dürr A, Stevanin G, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 71: 165-170, 1998.
-
(1998)
Hum Mol Genet
, vol.71
, pp. 165-170
-
-
David, G.1
Dürr, A.2
Stevanin, G.3
-
10
-
-
0031963416
-
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: Effect of CAG repeat length on the clinical manifestation
-
Johansson J, Forsgen L, Sandgren O, Brice A, Holmgren G, Holmberg M. Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 7: 171-176, 1998.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 171-176
-
-
Johansson, J.1
Forsgen, L.2
Sandgren, O.3
Brice, A.4
Holmgren, G.5
Holmberg, M.6
-
11
-
-
6844239536
-
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion
-
Del-Favero J, Krols L, Michalik A, et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet 7: 177-186, 1998.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 177-186
-
-
Del-Favero, J.1
Krols, L.2
Michalik, A.3
-
12
-
-
70349536260
-
Retina
-
10th ed. Ohno S, Kinoshita S, Eds. Igakushoin, Tokyo, in Japanese
-
Yoneya S. Retina. In: Standard Textbook of Ophthalmology. 10th ed. Ohno S, Kinoshita S, Eds. Igakushoin, Tokyo, 2007: 155-160 (in Japanese).
-
(2007)
Standard Textbook of Ophthalmology
, pp. 155-160
-
-
Yoneya, S.1
-
13
-
-
0842345576
-
Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy
-
Michalik A, Martin JJ, Van Broeckhoven C. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 12: 2-15, 2004.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 2-15
-
-
Michalik, A.1
Martin, J.J.2
Van Broeckhoven, C.3
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