-
1
-
-
13344270899
-
Friedreich ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, et al. Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
2
-
-
0029757676
-
The relationship between the trinucleotide repeat (GAA) length and clinical features in Friedreich ataxia
-
Filla A, De Michele G, Cavalcanti F, et al. The relationship between the trinucleotide repeat (GAA) length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59:554-560.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
3
-
-
17144467700
-
Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
-
Montermini L, Richter A, Morgan K, et al. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 1997;41:675-682.
-
(1997)
Ann Neurol
, vol.41
, pp. 675-682
-
-
Montermini, L.1
Richter, A.2
Morgan, K.3
-
5
-
-
0027257735
-
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy
-
Anvret M, Ålberg G, Grandell U, et al. Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. Hum Mol Genet 1993;2:1397-1400.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1397-1400
-
-
Anvret, M.1
Ålberg, G.2
Grandell, U.3
-
6
-
-
0019782799
-
Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamiliar clustering of clinical features
-
Harding AE. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamiliar clustering of clinical features. Brain 1981;104:589-620.
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
7
-
-
0017056474
-
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia
-
Geoffroy G, Barbeau A, Breton G, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 1976;3:279-286.
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 279-286
-
-
Geoffroy, G.1
Barbeau, A.2
Breton, G.3
-
8
-
-
0021721469
-
The neuropathology of typical Friedreich's ataxia in Quebec
-
Lamarche JB, Lemieux B, Liu HB. The neuropathology of typical Friedreich's ataxia in Quebec. Can J Neurol Sci 1984;11:592-600.
-
(1984)
Can J Neurol Sci
, vol.11
, pp. 592-600
-
-
Lamarche, J.B.1
Lemieux, B.2
Liu, H.B.3
-
9
-
-
0028146646
-
Trinucleotide diseases on the rise
-
Mandel JL. Trinucleotide diseases on the rise. Nat Genet 1994;7:453-455.
-
(1994)
Nat Genet
, vol.7
, pp. 453-455
-
-
Mandel, J.L.1
-
10
-
-
9444262436
-
Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease
-
Lopes-Cendes I, Maciel P, Kish SJ, et al. Somatic mosaicism in the central nervous system in spinocerebellar ataxia type 1 and Machado-Joseph disease. Ann Neurol 1996;40:199-206.
-
(1996)
Ann Neurol
, vol.40
, pp. 199-206
-
-
Lopes-Cendes, I.1
Maciel, P.2
Kish, S.J.3
-
11
-
-
0028339385
-
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
-
Telenius H, Kremer B, Goldberg YP, et al. Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet 1994;6:409-414.
-
(1994)
Nat Genet
, vol.6
, pp. 409-414
-
-
Telenius, H.1
Kremer, B.2
Goldberg, Y.P.3
-
12
-
-
0028916306
-
Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy
-
Ueno S, Kondoh K, Kotani Y, et al. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy. Hum Mol Genet 1995;4:663-666.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 663-666
-
-
Ueno, S.1
Kondoh, K.2
Kotani, Y.3
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