-
1
-
-
0019902437
-
The clinical features and classification of the late onset autosomal dominant cerebellar ataxias
-
Harding AE. The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. Brain 1982;105:1-28.
-
(1982)
Brain
, vol.105
, pp. 1-28
-
-
Harding, A.E.1
-
2
-
-
0028304397
-
Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: A clinical and genetic study of eight families
-
Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy: a clinical and genetic study of eight families. Brain 1994;117:445-60.
-
(1994)
Brain
, vol.117
, pp. 445-460
-
-
Enevoldson, T.P.1
Sanders, M.D.2
Harding, A.E.3
-
3
-
-
0028859878
-
Autosomal dominant cerebellar phenotypes: The genotype has settled the issue
-
Rosenberg RN. Autosomal dominant cerebellar phenotypes: the genotype has settled the issue. Neurology 1995; 45:1-5.
-
(1995)
Neurology
, vol.45
, pp. 1-5
-
-
Rosenberg, R.N.1
-
4
-
-
0028157908
-
A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: Evidence for the existence of a fourth locus
-
Stevanin G, LeGuern E, Ravise N, et al. A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet 1994;54:11-20.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 11-20
-
-
Stevanin, G.1
LeGuern, E.2
Ravise, N.3
-
5
-
-
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, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nature Genet 1994;8:280-4.
-
(1994)
Nature Genet
, vol.8
, pp. 280-284
-
-
Ranum, L.P.W.1
Schut, L.J.2
Lundgren, J.K.3
Orr, H.T.4
Livingston, D.M.5
-
6
-
-
0028169646
-
Autosomal dominant cerebellar ataxia with retinal degeneration: Clinical, neuropathologic, and genetic analysis of a large kindred
-
Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ. Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology 1994;44:1441-7.
-
(1994)
Neurology
, vol.44
, pp. 1441-1447
-
-
Gouw, L.G.1
Digre, K.B.2
Harris, C.P.3
Haines, J.H.4
Ptacek, L.J.5
-
7
-
-
0028353818
-
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I
-
Benomar A, Le Guern E, Dürr A, et al. Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. Ann Neurol 1994;35:439-44.
-
(1994)
Ann Neurol
, vol.35
, pp. 439-444
-
-
Benomar, A.1
Le Guern, E.2
Dürr, A.3
-
8
-
-
0029048660
-
Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p
-
Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet 1995;10:89-93.
-
(1995)
Nat Genet
, vol.10
, pp. 89-93
-
-
Gouw, L.G.1
Kaplan, C.D.2
Haines, J.H.3
-
9
-
-
0029031694
-
The gene for autosomal dominant cerebellar ataxia with pigmentary macula dystrophy maps to chromosome 3p12-p21.1
-
Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macula dystrophy maps to chromosome 3p12-p21.1. Nat Genet 1995;10:84-8.
-
(1995)
Nat Genet
, vol.10
, pp. 84-88
-
-
Benomar, A.1
Krols, L.2
Stevanin, G.3
-
10
-
-
0029117960
-
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1
-
Holmberg M, Johansson J, Forsgren L, 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 1995;4:1441-5.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1441-1445
-
-
Holmberg, M.1
Johansson, J.2
Forsgren, L.3
Heijbel, J.4
Sandgren, O.5
Holmgren, G.6
-
12
-
-
0027364850
-
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
-
Toda T, Segawa M, Nomura Y, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 1993;5:283-6.
-
(1993)
Nat Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
-
15
-
-
0021741939
-
Spinocerebellar ataxia in a large kindred: Age at onset, reproduction, and genetic linkage studies
-
Haines JL, Schut LJ, Weitkamp LR. Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology 1984;34:1542-8.
-
(1984)
Neurology
, vol.34
, pp. 1542-1548
-
-
Haines, J.L.1
Schut, L.J.2
Weitkamp, L.R.3
-
16
-
-
0026446099
-
A second-generation linkage map of the human genome
-
Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992; 359:794-801.
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
-
17
-
-
0017871680
-
Autosomal dominant system degeneration in Portuguese families of the Azores Islands: A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions
-
Coutinho P, Andrade C. Autosomal dominant system degeneration in Portuguese families of the Azores Islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology 1978;28:703-9.
-
(1978)
Neurology
, vol.28
, pp. 703-709
-
-
Coutinho, P.1
Andrade, C.2
-
18
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 1994;8:221-8.
-
(1994)
Nat Genet
, vol.8
, pp. 221-228
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
-
19
-
-
0028220405
-
Trinucleotide repeats in neurologic diseases: An hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I
-
Cha JH, Dure LS. Trinucleotide repeats in neurologic diseases: an hypothesis concerning the pathogenesis of Huntington's disease, Kennedy's disease, and spinocerebellar ataxia type I. Life Sci 1994;54:1459-64.
-
(1994)
Life Sci
, vol.54
, pp. 1459-1464
-
-
Cha, J.H.1
Dure, L.S.2
|