-
1
-
-
0021684975
-
Recessive ataxia in Arcadians and 'Cajuns'
-
Barbeau A, Roy M, Sadibelouiz M, Wilensky MA. Recessive ataxia in Arcadians and 'Cajuns'. Can J Neurol Sci 1984; 11 (4 Suppl): 526-33.
-
(1984)
Can J Neurol Sci
, vol.11
, Issue.4 SUPPL.
, pp. 526-533
-
-
Barbeau, A.1
Roy, M.2
Sadibelouiz, M.3
Wilensky, M.A.4
-
2
-
-
0027392943
-
Reverse mutation in myotonic dystrophy
-
Brunner HG, Jansen G, Nillesen W, Nelen MR, de Die CEM, Howeler CJ, et al. Reverse mutation in myotonic dystrophy. N Engl J Med 1993; 328: 476-480.
-
(1993)
N Engl J Med
, vol.328
, pp. 476-480
-
-
Brunner, H.G.1
Jansen, G.2
Nillesen, W.3
Nelen, M.R.4
De Die, C.E.M.5
Howeler, C.J.6
-
3
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcani F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion [see comments]. Science 1996; 271: 1423-7. Comment in: Science 1996; 271: 1374-5.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcani, F.6
-
4
-
-
0029921128
-
-
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcani F, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion [see comments]. Science 1996; 271: 1423-7. Comment in: Science 1996; 271: 1374-5.
-
(1996)
Science
, vol.271
, pp. 1374-1375
-
-
-
5
-
-
0023751357
-
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
-
Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 1988; 334: 248-50.
-
(1988)
Nature
, vol.334
, pp. 248-250
-
-
Chamberlain, S.1
Shaw, J.2
Rowland, A.3
Wallis, J.4
South, S.5
Nakamura, Y.6
-
6
-
-
0024580326
-
Genetic homogeneity at the Friedreich ataxia locus on chromosome 9
-
Chamberlain S, Shaw J, Wallis J, Rowland A, Chow L, Farrall M, et al. Genetic homogeneity at the Friedreich ataxia locus on chromosome 9. Am J Hum Genet 1989; 44: 518-21.
-
(1989)
Am J Hum Genet
, vol.44
, pp. 518-521
-
-
Chamberlain, S.1
Shaw, J.2
Wallis, J.3
Rowland, A.4
Chow, L.5
Farrall, M.6
-
7
-
-
0028120296
-
Late onset Friedreich's disease: Clinical features and mapping of mutation to the FRDA locus
-
De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, et al. Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. J Neurol Neurosurg Psychiatry 1994; 57: 977-9.
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 977-979
-
-
De Michele, G.1
Filla, A.2
Cavalcanti, F.3
Di Maio, L.4
Pianese, L.5
Castaldo, I.6
-
8
-
-
0029874333
-
Childhood onset of Friedreich ataxia: A clinical and genetic study of 36 cases
-
De Michele G, Di Maio L, Filla A, Majello M, Cocozza S, Cavalcanti F, et al. Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases. Neuropediatrics 1996; 27: 3-7.
-
(1996)
Neuropediatrics
, vol.27
, pp. 3-7
-
-
De Michele, G.1
Di Maio, L.2
Filla, A.3
Majello, M.4
Cocozza, S.5
Cavalcanti, F.6
-
9
-
-
0028246681
-
The Friedreich ataxia region: Characterization of two novel genes and reduction of the critical region to 300 kb
-
Duclos F, Rodius F, Wrogemann K, Mandel J-L, Koenig M. The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb. Hum Mol Genet 1994; 3: 909-14.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 909-914
-
-
Duclos, F.1
Rodius, F.2
Wrogemann, K.3
Mandel, J.-L.4
Koenig, M.5
-
10
-
-
0025184625
-
Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes
-
Filla A, De Michele G, Cavalcanti F, Perretti A, Santoro L, Barbieri F, et al. Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes. J Neurol Neurosurg Psychiatry 1990; 53: 667-70.
-
(1990)
J Neurol Neurosurg Psychiatry
, vol.53
, pp. 667-670
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
Perretti, A.4
Santoro, L.5
Barbieri, F.6
-
11
-
-
0023802480
-
Glucose metabolism alterations in Friedreich's ataxia
-
Finocchiaro G, Baio G, Micossi P, Pzza G, di Donato S, Glucose metabolism alterations in Friedreich's ataxia. Neurology 1988; 38: 1292-6.
-
(1988)
Neurology
, vol.38
, pp. 1292-1296
-
-
Finocchiaro, G.1
Baio, G.2
Micossi, P.3
Pzza, G.4
Di Donato, S.5
-
12
-
-
0024571118
-
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker
-
Fujita R, Agid Y, Trouillas P, Seek A, Tommasi-Davenas C, Driesel AJ, et al. Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker. Genomics 1989; 4: 110-1.
-
(1989)
Genomics
, vol.4
, pp. 110-111
-
-
Fujita, R.1
Agid, Y.2
Trouillas, P.3
Seek, A.4
Tommasi-Davenas, C.5
Driesel, A.J.6
-
13
-
-
0017056474
-
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia
-
Geoffroy G, Barbeau A, Breton G, Lemieux B, Aube M, Leger C, et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 1976; 3: 279-86.
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 279-286
-
-
Geoffroy, G.1
Barbeau, A.2
Breton, G.3
Lemieux, B.4
Aube, M.5
Leger, C.6
-
14
-
-
0025129284
-
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15
-
Hanauer A, Chery M, Fujita R, Driesel AJ, Gilgenkrantz S, Mandel J-L. The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. Am J Hum Genet 1990; 46; 133-7.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 133-137
-
-
Hanauer, A.1
Chery, M.2
Fujita, R.3
Driesel, A.J.4
Gilgenkrantz, S.5
Mandel, J.-L.6
-
15
-
-
0019521898
-
Early onset cerebellar ataxia with retained tendon reflexes: A clinical and genetic study of a disorder distinct from Friedreich's ataxia
-
Harding AE. Early onset cerebellar ataxia with retained tendon reflexes: a clinical and genetic study of a disorder distinct from Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1981a; 44: 503-8.
-
(1981)
J Neurol Neurosurg Psychiatry
, vol.44
, pp. 503-508
-
-
Harding, A.E.1
-
16
-
-
0019782799
-
Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial 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 intrafamilial clustering of clinical features. Brain 1981b; 104: 589-620.
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
17
-
-
0242488608
-
The hereditary ataxias and related disorders
-
Edinburgh: Churchill Livingstone
-
Harding AE. The hereditary ataxias and related disorders. Clinical Neurology and Neurosurgery Monographs. Vol. 6. Edinburgh: Churchill Livingstone, 1984.
-
(1984)
Clinical Neurology and Neurosurgery Monographs
, vol.6
-
-
Harding, A.E.1
-
18
-
-
0023551983
-
Vitamin E and the nervous system
-
Harding AE. Vitamin E and the nervous system. [Review]. Crit Rev Neurobiol 1986; 3: 89-103.
-
(1986)
Crit Rev Neurobiol
, vol.3
, pp. 89-103
-
-
Harding, A.E.1
-
19
-
-
0002776637
-
Cerebellar and spinocerebellar disorders
-
Bradley WG, Daroff RB, Fenichel GM, Marsden CD, editors. Boston: Butterworth-Heinemann
-
Harding AE. Cerebellar and spinocerebellar disorders. In: Bradley WG, Daroff RB, Fenichel GM, Marsden CD, editors. Boston: Butterworth-Heinemann: Neurology in clinical practice. 1996: 1773-92.
-
(1996)
Neurology in Clinical Practice
, pp. 1773-1792
-
-
Harding, A.E.1
-
20
-
-
0019790761
-
'Pseudo-dominant' inheritance in Friedreich's ataxia
-
Harding AE, Zilkha KJ. 'Pseudo-dominant' inheritance in Friedreich's ataxia. J Med Genet 1981; 18: 285-7.
-
(1981)
J Med Genet
, vol.18
, pp. 285-287
-
-
Harding, A.E.1
Zilkha, K.J.2
-
21
-
-
0021067564
-
The heart disease of Friedreich's ataxia: A clinical and electrocardiographic study of 115 patients with an analysis of serial electrocardiographic changes in 30 cases
-
Harding AE, Hewer RL. The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients with an analysis of serial electrocardiographic changes in 30 cases. Q J Med 1983; 52: 489-502.
-
(1983)
Q J Med
, vol.52
, pp. 489-502
-
-
Harding, A.E.1
Hewer, R.L.2
-
22
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes [see comments]. Cell 1993; 72: 971-83. Comment in: Cell 1993; 72: 817-8.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
-
23
-
-
0027480255
-
-
Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes [see comments]. Cell 1993; 72: 971-83. Comment in: Cell 1993; 72: 817-8.
-
(1993)
Cell
, vol.72
, pp. 817-818
-
-
-
24
-
-
0027250194
-
Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
-
Klockgether T, Chamberlain S, Wullner U, Fetter M, Dittmann H, Petersen D, et al. Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Arch Neurol 1993; 50: 803-6.
-
(1993)
Arch Neurol
, vol.50
, pp. 803-806
-
-
Klockgether, T.1
Chamberlain, S.2
Wullner, U.3
Fetter, M.4
Dittmann, H.5
Petersen, D.6
-
25
-
-
0029990713
-
Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
-
Klockgether T, Zuhlke C, Schulz JB, Burk K, Fetter M, Dittmann H, et al. Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging. Neurology 1996; 46: 118-21.
-
(1996)
Neurology
, vol.46
, pp. 118-121
-
-
Klockgether, T.1
Zuhlke, C.2
Schulz, J.B.3
Burk, K.4
Fetter, M.5
Dittmann, H.6
-
26
-
-
0028819669
-
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13
-
Montermini L, Rodius F, Pianese L, Molto MD, Cossee M, Campuzano V, et al. The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. Am J Hum Genet 1995; 57: 1061-7.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1061-1067
-
-
Montermini, L.1
Rodius, F.2
Pianese, L.3
Molto, M.D.4
Cossee, M.5
Campuzano, V.6
-
27
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nat Genet 1994; 6: 14-8.
-
(1994)
Nat Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
-
28
-
-
0027164698
-
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
-
Orr HT, Chung M-Y, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993; 4: 221-6.
-
(1993)
Nat Genet
, vol.4
, pp. 221-226
-
-
Orr, H.T.1
Chung, M.-Y.2
Banfi, S.3
Kwiatkowski Jr., T.J.4
Servadio, A.5
Beaudet, A.L.6
-
29
-
-
0028941326
-
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
-
Palau F, De Michele G, Vilchez JJ, Pandolfo M, Monros E, Cocozza S, et al. Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 1995; 37: 359-62.
-
(1995)
Ann Neurol
, vol.37
, pp. 359-362
-
-
Palau, F.1
De Michele, G.2
Vilchez, J.J.3
Pandolfo, M.4
Monros, E.5
Cocozza, S.6
-
31
-
-
0016919076
-
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship
-
Rapin I, Suzuki K, Valsamis MP. Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol 1976; 33: 120-30.
-
(1976)
Arch Neurol
, vol.33
, pp. 120-130
-
-
Rapin, I.1
Suzuki, K.2
Valsamis, M.P.3
-
32
-
-
0026447519
-
Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile?
-
Santoro L, Perretti A, Filla A, De Michele G, Lanzillo B, Barbieri F, et al. Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? J Neurol Sci 1992; 113: 43-9.
-
(1992)
J Neurol Sci
, vol.113
, pp. 43-49
-
-
Santoro, L.1
Perretti, A.2
Filla, A.3
De Michele, G.4
Lanzillo, B.5
Barbieri, F.6
|