-
1
-
-
34447604868
-
Uber degenerative Atrophie der spinalen Hinterstrange
-
Friedreich N. Uber degenerative Atrophie der spinalen Hinterstrange. Virchow's Arch Pathol Anat 1863;26:391-419.
-
(1863)
Virchow's Arch Pathol Anat
, vol.26
, pp. 391-419
-
-
Friedreich, N.1
-
2
-
-
34447609375
-
Uber degenerative Atrophie der spinalen Hinterstrange
-
Friedreich N. Uber degenerative Atrophie der spinalen Hinterstrange. Virchow's Arch Pathol Anal 1863;26:433-59.
-
(1863)
Virchow's Arch Pathol Anal
, vol.26
, pp. 433-459
-
-
Friedreich, N.1
-
3
-
-
0010410867
-
Uber degenerative Atrophie der spinalen Hinterstrange
-
Friedreich N. Uber degenerative Atrophie der spinalen Hinterstrange. Virchow's Arch Pathol Anat 1863;27:1-26.
-
(1863)
Virchow's Arch Pathol Anat
, vol.27
, pp. 1-26
-
-
Friedreich, N.1
-
4
-
-
0001443567
-
Uber ataxie mit besonderer berucksichtigung der hereditaren formen
-
Friedreich N. Uber ataxie mit besonderer berucksichtigung der hereditaren formen. Virchow's Arch Pathol Anat 1876;68:145-245.
-
(1876)
Virchow's Arch Pathol Anat
, vol.68
, pp. 145-245
-
-
Friedreich, N.1
-
5
-
-
0000428379
-
Uber ataxie mit besonderer berucksichtigung der hereditaren formen
-
Friedreich N. Uber ataxie mit besonderer berucksichtigung der hereditaren formen. Virchow's Arch Pathol Anat 1877;70:140-52.
-
(1877)
Virchow's Arch Pathol Anat
, vol.70
, pp. 140-152
-
-
Friedreich, N.1
-
6
-
-
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 1981; 104:589-620.
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
7
-
-
0345683318
-
Friedreich's disease
-
Ladame P. Friedreich's disease. Brain 1890;13:467-537.
-
(1890)
Brain
, vol.13
, pp. 467-537
-
-
Ladame, P.1
-
8
-
-
1642625088
-
Three cases of Friedreich's disease all presenting marked increase of the knee jerk
-
Hodge G. Three cases of Friedreich's disease all presenting marked increase of the knee jerk. BMJ 1897;1:1405-6.
-
(1897)
BMJ
, vol.1
, pp. 1405-1406
-
-
Hodge, G.1
-
9
-
-
0010351573
-
On hereditary ataxia and spastic paraplegia
-
Cambridge: Cambridge Universiy Press
-
Bell J, Charmichael E. On hereditary ataxia and spastic paraplegia. In: Treasury of human inheritance. Cambridge: Cambridge Universiy Press, 1939:141-281.
-
(1939)
Treasury of Human Inheritance
, pp. 141-281
-
-
Bell, J.1
Charmichael, E.2
-
11
-
-
0019790761
-
'Pseudo-dominant'inheritance in Friedreich' ataxia
-
Harding AE, Zilkha KJ. 'Pseudo-dominant'inheritance in Friedreich' 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
-
12
-
-
0020558195
-
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages
-
Romeo G, Menozzi P, Ferlini A, et al. Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am J Hum Genet 1983;35:523-9.
-
(1983)
Am J Hum Genet
, vol.35
, pp. 523-529
-
-
Romeo, G.1
Menozzi, P.2
Ferlini, A.3
-
13
-
-
0026736715
-
Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy
-
Filla A, De Michele G, Marconi R, et al. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 1992;239:351-3.
-
(1992)
J Neurol
, vol.239
, pp. 351-353
-
-
Filla, A.1
De Michele, G.2
Marconi, R.3
-
14
-
-
0031009267
-
Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
-
Epplen C, Epplen J, Frank G, Miterski B, Santos E, Schols L, Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 1997;99:834-6.
-
(1997)
Hum Genet
, vol.99
, pp. 834-836
-
-
Epplen, C.1
Epplen, J.2
Frank, G.3
Miterski, B.4
Santos, E.5
Schols, L.6
-
15
-
-
0030739437
-
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutation
-
Cossee M, Schmitt M, Campuzano V, et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutation. Proc Natl Acad Sci USA 1997;94: 7452-7.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 7452-7457
-
-
Cossee, M.1
Schmitt, M.2
Campuzano, V.3
-
16
-
-
0031822037
-
Prenatal diagnosis of Friedreich ataxia
-
Pandolfo M, Montermini L. Prenatal diagnosis of Friedreich ataxia. Prenat Diagn 1998;18:831-3.
-
(1998)
Prenat Diagn
, vol.18
, pp. 831-833
-
-
Pandolfo, M.1
Montermini, L.2
-
17
-
-
0006957324
-
Klinische und erbiologische Untersuchungen uber die Heredoataxien
-
Sjogren T. Klinische und erbiologische Untersuchungen uber die Heredoataxien. Acta Psych Neurol Scand 1943;27: 1-200.
-
(1943)
Acta Psych Neurol Scand
, vol.27
, pp. 1-200
-
-
Sjogren, T.1
-
18
-
-
0017047867
-
Genetic and family studies in Friedreich's ataxia
-
Andermann E, Remillard GM, Goyer C, Blitzer L, Andermann F, Barbeau A. Genetic and family studies in Friedreich's ataxia. Can J Neurol Sci 1976;3:287-301.
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 287-301
-
-
Andermann, E.1
Remillard, G.M.2
Goyer, C.3
Blitzer, L.4
Andermann, F.5
Barbeau, A.6
-
19
-
-
0032991537
-
Molecular genetic diagnosis of Friedreich's ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration
-
De Silva R, Petty R, Loudon M, Frew C, Cooke A, Davidson R. Molecular genetic diagnosis of Friedreich's ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration. J Neurol Neurosurg Psychiatry 1999; 66:117-18.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 117-118
-
-
De Silva, R.1
Petty, R.2
Loudon, M.3
Frew, C.4
Cooke, A.5
Davidson, R.6
-
20
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335;1169-75.
-
(1996)
N Engl J Med
, vol.335
, pp. 1169-1175
-
-
Durr, A.1
Cossee, M.2
Agid, Y.3
-
21
-
-
0242565967
-
-
Haymaker W, Schiller F, eds. Springfield: Charles C Thomas
-
Richter R, Nikolaus Friedreich, In: Haymaker W, Schiller F, eds. The founders of neurology. Springfield: Charles C Thomas, 1970:439-41.
-
(1970)
The Founders of Neurology
, pp. 439-441
-
-
Richter, R.1
Friedreich, N.2
-
22
-
-
0014379575
-
The peripheral sensory pathway in Friedreich's ataxia. An examination by light and electron microscopy of the posterior nerve roots, posterior root ganglia, and peripheral sensory nerves in cases of Frie- Dreich's ataxia
-
Hughes JT, Brownell B, Hewer RL. The peripheral sensory pathway in Friedreich's ataxia. An examination by light and electron microscopy of the posterior nerve roots, posterior root ganglia, and peripheral sensory nerves in cases of Frie- dreich's ataxia. Brain 1968;91:803-18.
-
(1968)
Brain
, vol.91
, pp. 803-818
-
-
Hughes, J.T.1
Brownell, B.2
Hewer, R.L.3
-
23
-
-
0026573659
-
Pathological study of corticospinal-tract degeneration in Friedreich's ataxia
-
Murayama S, Bouldin TW, Suzuki K. Pathological study of corticospinal-tract degeneration in Friedreich's ataxia. Neuropathol Appl Neurobiol 1992;18:81-6.
-
(1992)
Neuropathol Appl Neurobiol
, vol.18
, pp. 81-86
-
-
Murayama, S.1
Bouldin, T.W.2
Suzuki, K.3
-
24
-
-
0027182509
-
The sensory neuropathy of Friedreich's ataxia: An autopsy study of a case with prolonged survival
-
Jitpimolmard S, Small J, King RH, et al. The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case with prolonged survival. Acta Neuropathol 1993;86:29-35.
-
(1993)
Acta Neuropathol
, vol.86
, pp. 29-35
-
-
Jitpimolmard, S.1
Small, J.2
King, R.H.3
-
25
-
-
0021721469
-
The neuropathology of "typical" Friedreich's ataxia in Quebec
-
Lamarche JB, Lemieux B, Lieu HB. The neuropathology of "typical" Friedreich's ataxia in Quebec, Can J Neural Sci 1984;11:592-600.
-
(1984)
Can J Neural Sci
, vol.11
, pp. 592-600
-
-
Lamarche, J.B.1
Lemieux, B.2
Lieu, H.B.3
-
26
-
-
0031708992
-
Brain phospholipids and fatty acids in Friedreich's ataxia and spinocerebellar atrophy type-1
-
Eder K, Kish SJ, Kirchgessner M, Ross BM. Brain phospholipids and fatty acids in Friedreich's ataxia and spinocerebellar atrophy type-1- Mov Disord 1998;13:813-19.
-
(1998)
Mov Disord
, vol.13
, pp. 813-819
-
-
Eder, K.1
Kish, S.J.2
Kirchgessner, M.3
Ross, B.M.4
-
27
-
-
0029883220
-
The varying evolution of Friedreich's ataxia cardiomyopathy
-
Casazza F, Morpurgo M. The varying evolution of Friedreich's ataxia cardiomyopathy. Am J Cardiol 1996;77:895-8.
-
(1996)
Am J Cardiol
, vol.77
, pp. 895-898
-
-
Casazza, F.1
Morpurgo, M.2
-
28
-
-
0017031971
-
Pathology of the heart in Friedreich's ataxia: Review of the literature and report of one case
-
Sanchez-Casis G, Cote M, Barbeau A. Pathology of the heart in Friedreich's ataxia: review of the literature and report of one case. Can J Neural Sci 1977;3:349-54.
-
(1977)
Can J Neural Sci
, vol.3
, pp. 349-354
-
-
Sanchez-Casis, G.1
Cote, M.2
Barbeau, A.3
-
29
-
-
0001787556
-
Cardiac iron deposits in Friedreich's ataxia
-
Lechtenberg R, ed. New York: Marcel Dekker
-
Lamarche J, Shapcott D, Cote M, Lemieux B. Cardiac iron deposits in Friedreich's ataxia. In: Lechtenberg R, ed. Handbook of cerebellar diseases. New York: Marcel Dekker, 1993:453-7.
-
(1993)
Handbook of Cerebellar Diseases
, pp. 453-457
-
-
Lamarche, J.1
Shapcott, D.2
Cote, M.3
Lemieux, B.4
-
30
-
-
0023751357
-
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
-
Chamberlain S, Shaw J, Rowland A, 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
-
31
-
-
0024571118
-
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker
-
Fujita R, Agid Y, Trouillas P, 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
-
32
-
-
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 JL. 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;46:1 33-7
-
(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
-
33
-
-
13344270899
-
Friedreich 's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, et al. Friedreich 's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-7.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
34
-
-
8544240144
-
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
-
Montermini L, Andermann E, Labuda M, et al. The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 1997;6:1261-6.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1261-1266
-
-
Montermini, L.1
Andermann, E.2
Labuda, M.3
-
35
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-80.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
-
36
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 1997;16:345-51.
-
(1997)
Nat Genet
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dolle, P.4
Cazzalini, O.5
Koenig, M.6
-
37
-
-
0030826433
-
Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo
-
Jiralerspong S, Liu Y, Montermini L, Stifani S, Pandolfo M. Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiol Dis 1997;4:103-13.
-
(1997)
Neurobiol Dis
, vol.4
, pp. 103-113
-
-
Jiralerspong, S.1
Liu, Y.2
Montermini, L.3
Stifani, S.4
Pandolfo, M.5
-
38
-
-
0032486276
-
Inhibitory effects of expanded GAA-TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo
-
Ohshima K, Montermini L, Wells RD, Pandolfo M. Inhibitory effects of expanded GAA-TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J Biol Chem 1998;273:14588-95.
-
(1998)
J Biol Chem
, vol.273
, pp. 14588-14595
-
-
Ohshima, K.1
Montermini, L.2
Wells, R.D.3
Pandolfo, M.4
-
39
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani SI, Ashizawa T, Patel PI. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 1998;62:111-21.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 111-121
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
40
-
-
0033120042
-
Sticky DNA: Self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia
-
Sakamoto N, Chastain PD, Parniewski P, et al. Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. Mol Cell 1999;3:465-75.
-
(1999)
Mol Cell
, vol.3
, pp. 465-475
-
-
Sakamoto, N.1
Chastain, P.D.2
Parniewski, P.3
-
41
-
-
0030477621
-
Trinucleotide repeat disorders in humans: Discussions of mechanisms and medical issues
-
Timchenko LT, Caskey CT. Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues. FASEB J 1996;10:1589-97.
-
(1996)
FASEB J
, vol.10
, pp. 1589-1597
-
-
Timchenko, L.T.1
Caskey, C.T.2
-
42
-
-
0030862745
-
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
-
Monros E, Molto MD, Martinez F, et al. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 1997;61:101-10.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 101-110
-
-
Monros, E.1
Molto, M.D.2
Martinez, F.3
-
43
-
-
0031035455
-
The effect of parental gender on the GAA dynamic mutation in the FRDAgene
-
Pianese L, Cavalcanti F, De Michele G, et al. The effect of parental gender on the GAA dynamic mutation in the FRDAgene . Am J Hum Genet 1997;60:460-3.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 460-463
-
-
Pianese, L.1
Cavalcanti, F.2
De Michele, G.3
-
44
-
-
0031816520
-
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene
-
Delatycki M, Paris D, Gardner R, et al. Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J Med Genet 1998;35:713-16.
-
(1998)
J Med Genet
, vol.35
, pp. 713-716
-
-
Delatycki, M.1
Paris, D.2
Gardner, R.3
-
45
-
-
0031739916
-
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: Pedigree studies and analysis of sperm from patients with Friedreich's ataxia
-
De Michele G5 Cavalcanti F, Criscuolo C, et al. Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. Hum Mol Genet 1998;7:1901-6.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1901-1906
-
-
De Michele, G.1
Cavalcanti, F.2
Criscuolo, C.3
-
46
-
-
0027359989
-
Molecular analysis of new mutations for Huntingion's disease: Intermediate alleles and sex of origin effects
-
Goldberg YP, Kremer B, Andrew SE, et al. Molecular analysis of new mutations for Huntingion's disease: intermediate alleles and sex of origin effects. Nat Genet 1993;5:174-9.
-
(1993)
Nat Genet
, vol.5
, pp. 174-179
-
-
Goldberg, Y.P.1
Kremer, B.2
Andrew, S.E.3
-
47
-
-
0029847764
-
Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population
-
Monros E, Canizares J, Molto MD, et al. Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population. Eur J Hum Genet 1996;4:191-8.
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 191-198
-
-
Monros, E.1
Canizares, J.2
Molto, M.D.3
-
48
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996;59: 554-60.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
49
-
-
0030904035
-
Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates
-
Lamont PJ, Davis MB, Wood NW. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates. Brain 1997;120:673-80.
-
(1997)
Brain
, vol.120
, pp. 673-680
-
-
Lamont, P.J.1
Davis, M.B.2
Wood, N.W.3
-
50
-
-
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;41:675-82.
-
(1997)
Ann Neurol
, vol.41
, pp. 675-682
-
-
Montermini, L.1
Richter, A.2
Morgan, K.3
-
51
-
-
0032756146
-
A clinical and genetic study of Friedreich ataxia in an Australian population
-
in press
-
Delatycki M, Paris D, Gardner R, et al. A clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet (in press).
-
Am J Med Genet
-
-
Delatycki, M.1
Paris, D.2
Gardner, R.3
-
52
-
-
0031919090
-
An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene
-
Ristow M, Giannakidou E, Hebinck J, et al. An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene, Diabetes 1998;47:851-4.
-
(1998)
Diabetes
, vol.47
, pp. 851-854
-
-
Ristow, M.1
Giannakidou, E.2
Hebinck, J.3
-
53
-
-
0031690198
-
No association between the Friedreich's ataxia gene and NIDDM in the French population
-
Dupont S, Dubois D, Vionnet N, et al. No association between the Friedreich's ataxia gene and NIDDM in the French population- Diabetes 1998;47:1654-6.
-
(1998)
Diabetes
, vol.47
, pp. 1654-1656
-
-
Dupont, S.1
Dubois, D.2
Vionnet, N.3
-
54
-
-
0033054726
-
Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function in Danish Caucasians
-
Dalgaard LT, Hansen T, Urhammer SA, Clausen JO, Eiberg H, Pedersen O. Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function in Danish Caucasians. Diabetes 1999;48:914-17.
-
(1999)
Diabetes
, vol.48
, pp. 914-917
-
-
Dalgaard, L.T.1
Hansen, T.2
Urhammer, S.A.3
Clausen, J.O.4
Eiberg, H.5
Pedersen, O.6
-
55
-
-
0024580326
-
Genetic homogeneity at the Friedreich ataxia locus on chromosome 9
-
Chamberlain S, Shaw J, Wallis J, 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
-
56
-
-
0025142114
-
Friedreich ataxia in Italian families: Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15
-
Pandolfo M, Sirugo G, Antonelli A, et al. Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15. Am J Hum Genet 1990;47:228-35.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 228-235
-
-
Pandolfo, M.1
Sirugo, G.2
Antonelli, A.3
-
57
-
-
0026524275
-
Friedreich ataxia in Louisiana Acadians: Demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes
-
Sirugo G, Keats B, Fujita R, et al. Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes. Am J Hum Genet 1992;50:559-66.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 559-566
-
-
Sirugo, G.1
Keats, B.2
Fujita, R.3
-
58
-
-
0029877383
-
A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus
-
Smeyers P, Monros E, Vilchez J, Lopez-Arlandis J, Prieto F, Palau F. A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus. Hum Genet 1996;97: 824-8.
-
(1996)
Hum Genet
, vol.97
, pp. 824-828
-
-
Smeyers, P.1
Monros, E.2
Vilchez, J.3
Lopez-Arlandis, J.4
Prieto, F.5
Palau, F.6
-
60
-
-
0031889483
-
Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families
-
Cavalier L, Ouahchi K, Kayden HJ, et al. Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families, Am J Hum Genet 1998;62:301-10.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 301-310
-
-
Cavalier, L.1
Ouahchi, K.2
Kayden, H.J.3
-
61
-
-
0028876572
-
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
-
Ouahchi K, Arita M, Kayden H, et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet 1995;9:141-5.
-
(1995)
Nat Genet
, vol.9
, pp. 141-145
-
-
Ouahchi, K.1
Arita, M.2
Kayden, H.3
-
62
-
-
0027250194
-
Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
-
Klockgether T, Chamberlain S, Wullner U, 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
-
63
-
-
0028120296
-
Late onset Friedreich's disease: Clinical features and mapping of mutation to the FRDA locus
-
De Michele G, Filla A, Cavalcanti F, 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
-
64
-
-
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, 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
-
65
-
-
0029990713
-
Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology, and magnetic resonance imaging
-
Klockgether T, Zuhlke C, Schulz JB, 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
-
66
-
-
0024390767
-
"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus
-
Keats BJ, Ward LJ, Shaw J, Wickremasinghe A, Chamberlain S. "Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus. Am J Med Genet 1989;33:266-8.
-
(1989)
Am J Med Genet
, vol.33
, pp. 266-268
-
-
Keats, B.J.1
Ward, L.J.2
Shaw, J.3
Wickremasinghe, A.4
Chamberlain, S.5
-
67
-
-
0031467887
-
Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia
-
Ragno M, De Michele G, Cavalcanti F, et al. Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia. Neurology 1997;49:1617-20.
-
(1997)
Neurology
, vol.49
, pp. 1617-1620
-
-
Ragno, M.1
De Michele, G.2
Cavalcanti, F.3
-
68
-
-
0032129492
-
Friedreich's ataxia presenting as adult onset spastic paraparesis
-
Gates P, Paris D, Forrest S, Williamson R, Gardner R. Friedreich's ataxia presenting as adult onset spastic paraparesis. Neurogenetics 1998;1:297-9.
-
(1998)
Neurogenetics
, vol.1
, pp. 297-299
-
-
Gates, P.1
Paris, D.2
Forrest, S.3
Williamson, R.4
Gardner, R.5
-
69
-
-
0031154432
-
Intronic GAA triplet repeat expansion in Friedreich's ataxia presenting with pure sensory ataxia
-
Berciano J, Combarros O, De Castro M, Palau F. Intronic GAA triplet repeat expansion in Friedreich's ataxia presenting with pure sensory ataxia. J Neurol 1997;244: 390-1.
-
(1997)
J Neurol
, vol.244
, pp. 390-391
-
-
Berciano, J.1
Combarros, O.2
De Castro, M.3
Palau, F.4
-
70
-
-
0031883441
-
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
-
Hanna MG, Davis MB, Sweeney MG, et al. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. Mov Disord 1998;13: 339-40.
-
(1998)
Mov Disord
, vol.13
, pp. 339-340
-
-
Hanna, M.G.1
Davis, M.B.2
Sweeney, M.G.3
-
71
-
-
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;3:279-86.
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 279-286
-
-
Geoffroy, G.1
Barbeau, A.2
Breton, G.3
-
72
-
-
0030970883
-
Genetic abnormalities in Friedreich's ataxia
-
Filla A, De Michele G, Cocozza S. Genetic abnormalities in Friedreich's ataxia. N Engl J Med 1997;336:1021-2.
-
(1997)
N Engl J Med
, vol.336
, pp. 1021-1022
-
-
Filla, A.1
De Michele, G.2
Cocozza, S.3
-
73
-
-
0032129416
-
The correlation of clinical phenotype with the site of point mutations in the FRDA gene
-
Forrest S, Knight M, Delatycki M, et al. The correlation of clinical phenotype with the site of point mutations in the FRDA gene. Neurogenetics 1998;1:253-7.
-
(1998)
Neurogenetics
, vol.1
, pp. 253-257
-
-
Forrest, S.1
Knight, M.2
Delatycki, M.3
-
74
-
-
0344820730
-
Friedreich's ataxia: Point mutations and clinical presentations of compound heterozygotes
-
Cossee M, Durr A, Schmitt M, et al. Friedreich's ataxia: point mutations and clinical presentations of compound heterozygotes. Ann Neurol 1999;45:200-6.
-
(1999)
Ann Neurol
, vol.45
, pp. 200-206
-
-
Cossee, M.1
Durr, A.2
Schmitt, M.3
-
75
-
-
0031683863
-
Mutation of the start codon in the FRDA1 gene: Linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor
-
Zuhlke C, Laccone F, Cossee M, Kohlschutter A, Koenig M, Schwinger E. Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor. Hum Genet 1998;103:102-5.
-
(1998)
Hum Genet
, vol.103
, pp. 102-105
-
-
Zuhlke, C.1
Laccone, F.2
Cossee, M.3
Kohlschutter, A.4
Koenig, M.5
Schwinger, E.6
-
76
-
-
0030895266
-
Atypical Friedreich ataxia caused by compound heterozygosity for a novel mis- Sense mutation and the GAA triplet-repeat expansion
-
Bidichandani SI, Ashizawa T, Patel PI. Atypical Friedreich ataxia caused by compound heterozygosity for a novel mis- sense mutation and the GAA triplet-repeat expansion. Am J Hum Genet 1997;60:1251-6.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1251-1256
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
77
-
-
0019436769
-
Lipoamide dehydrogenase deficiency
-
Robinson BH, Sherwood WG, Kahler S, Me OF, N'adler H. Lipoamide dehydrogenase deficiency. N Engl J Med 1981; 304:53-4.
-
(1981)
N Engl J Med
, vol.304
, pp. 53-54
-
-
Robinson, B.H.1
Sherwood, W.G.2
Kahler, S.3
Me, O.F.4
N'adler, H.5
-
78
-
-
0020730661
-
Friedreich ataxia and low pyruvate carboxylase activity in liver and fibroblasts
-
Dijkstra UJ, Willems JL, Joosten EM, Gabreels FJ. Friedreich ataxia and low pyruvate carboxylase activity in liver and fibroblasts. Ann Neurol 1983;13:325-7.
-
(1983)
Ann Neurol
, vol.13
, pp. 325-327
-
-
Dijkstra, U.J.1
Willems, J.L.2
Joosten, E.M.3
Gabreels, F.J.4
-
79
-
-
19244376658
-
Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia
-
Dijkstra UJ, Trijbels JM, Ruitenbeek W, et al. Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia. Ann Neurol 1984;16:262.
-
(1984)
Ann Neurol
, vol.16
, pp. 262
-
-
Dijkstra, U.J.1
Trijbels, J.M.2
Ruitenbeek, W.3
-
80
-
-
0020061808
-
Friedreich ataxia III. Mitochondrial malic enzyme deficiency
-
Stumpf DA, Parks JK, Eguren LA, Haas R, Friedreich ataxia- III. Mitochondrial malic enzyme deficiency- Neurology 1982;32:221-7.
-
(1982)
Neurology
, vol.32
, pp. 221-227
-
-
Stumpf, D.A.1
Parks, J.K.2
Eguren, L.A.3
Haas, R.4
-
81
-
-
0022506861
-
Normal fibroblast mitochondrial malic enzyme activity in Friedreich's ataxia
-
Fernandez RJ, Civantos F, Tress E, Maltese WA, De Vivo DC. Normal fibroblast mitochondrial malic enzyme activity in Friedreich's ataxia. Neurology 1986;36:869-72.
-
(1986)
Neurology
, vol.36
, pp. 869-872
-
-
Fernandez, R.J.1
Civantos, F.2
Tress, E.3
Maltese, W.A.4
De Vivo, D.C.5
-
82
-
-
0021800781
-
Mitochondrial malic enzyme in Friedreich's ataxia: Failure to demonstrate reduced activity in cultured fibroblasts
-
Gray RG, Kumar D. Mitochondrial malic enzyme in Friedreich's ataxia: failure to demonstrate reduced activity in cultured fibroblasts. J Neurol Neurosurg Psychiatry 1985;48: 70-4.
-
(1985)
J Neurol Neurosurg Psychiatry
, vol.48
, pp. 70-74
-
-
Gray, R.G.1
Kumar, D.2
-
83
-
-
0026754574
-
Reactive oxygen species and the central nervous system
-
Halliwell B. Reactive oxygen species and the central nervous system. J Neurochem 1992;59:1609-23.
-
(1992)
J Neurochem
, vol.59
, pp. 1609-1623
-
-
Halliwell, B.1
-
84
-
-
0030296878
-
Friedreich's ataxia protein: Phylogenetic evidence for mitochondrial dysfunction
-
Gibson TJ, Koonin EV, Musco G, Pastore A, Bork P. Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. Trends Neurosci 1996;19:465-8.
-
(1996)
Trends Neurosci
, vol.19
, pp. 465-468
-
-
Gibson, T.J.1
Koonin, E.V.2
Musco, G.3
Pastore, A.4
Bork, P.5
-
85
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh 1p, a putative homolog of frataxin
-
Babcock M, de Suva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh 1p, a putative homolog of frataxin. Science 1997;276:1709-12.
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
De Suva, D.2
Oaks, R.3
-
86
-
-
0030825723
-
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
-
Wilson R, Roof D, Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997;16:352-7.
-
(1997)
Nat Genet
, vol.16
, pp. 352-357
-
-
Wilson, R.1
Roof, D.2
-
87
-
-
0031567601
-
Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria
-
Foury F, Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett 1997;411: 373-7.
-
(1997)
FEBS Lett
, vol.411
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
88
-
-
0031253821
-
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
-
Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997;17:215-17.
-
(1997)
Nat Genet
, vol.17
, pp. 215-217
-
-
Rotig, A.1
De Lonlay, P.2
Chretien, D.3
-
89
-
-
0029053451
-
Superoxide radical and Superoxide dismutases
-
Fridovich I. Superoxide radical and Superoxide dismutases. Annu Rev Biochem 1995;64:97-112.
-
(1995)
Annu Rev Biochem
, vol.64
, pp. 97-112
-
-
Fridovich, I.1
-
90
-
-
0033054177
-
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis
-
Wong A, Yang J, Cavadini P, et al. The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis. Hum Mol Genet 1999;8:425-30.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 425-430
-
-
Wong, A.1
Yang, J.2
Cavadini, P.3
-
91
-
-
0032914608
-
Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia
-
Delatycki MB, Camakaris J, Brooks H, et al. Direct evidence that mitochondrial iron accumulation occurs in Friedreich ataxia, Ann Neurol 1999;45:673-5.
-
(1999)
Ann Neurol
, vol.45
, pp. 673-675
-
-
Delatycki, M.B.1
Camakaris, J.2
Brooks, H.3
-
92
-
-
0033582421
-
The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle
-
Radisky DC, Babcock MC, Kaplan J. The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle. J Biol Chem 1999;274:4497-9.
-
(1999)
J Biol Chem
, vol.274
, pp. 4497-4499
-
-
Radisky, D.C.1
Babcock, M.C.2
Kaplan, J.3
-
93
-
-
0032970156
-
Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in saccharomyces cerevisiae
-
Branda SS, Yang Z, Chew A, Isaya G. Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in saccharomyces cerevisiae. Hum Mol Genet 1999;8:1099-110.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1099-1110
-
-
Branda, S.S.1
Yang, Z.2
Chew, A.3
Isaya, G.4
-
94
-
-
0032540929
-
Mt-Hsp70 homolog, Ssc2ps required for maturation of yeast frataxin and mitochondrial iron homeostasis
-
Knight SA, Sepuri NB, Pain D, Dancis A. Mt-Hsp70 homolog, Ssc2ps required for maturation of yeast frataxin and mitochondrial iron homeostasis. J Biol Chem 1998;273: 18389-93.
-
(1998)
J Biol Chem
, vol.273
, pp. 18389-18393
-
-
Knight, S.A.1
Sepuri, N.B.2
Pain, D.3
Dancis, A.4
-
95
-
-
0031656903
-
Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase
-
Koutnikova H, Campuzano V, Koenig M. Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. Hum Mol Genet 1998;7:1485-9.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1485-1489
-
-
Koutnikova, H.1
Campuzano, V.2
Koenig, M.3
-
96
-
-
0000256612
-
Friedreich's ataxia
-
Wells R, Warren S, eds. San Diego: Academic Press
-
Pandolfo M, Koenig M. Friedreich's ataxia. In: Wells R, Warren S, eds. Genetic instabilities and hereditary neurological diseases, San Diego: Academic Press, 1998:373-98.
-
(1998)
Genetic Instabilities and Hereditary Neurological Diseases
, pp. 373-398
-
-
Pandolfo, M.1
Koenig, M.2
-
97
-
-
0031903392
-
Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia
-
Wilson RB, Lynch DR, Fischbeck KH. Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia. Ann Neural 1998;44:132-4.
-
(1998)
Ann Neural
, vol.44
, pp. 132-134
-
-
Wilson, R.B.1
Lynch, D.R.2
Fischbeck, K.H.3
-
98
-
-
0033533071
-
Effect of idebenone on cardiomyopa thy in Friedreich's ataxia
-
Rustin P, Kleist-Retzow JCV, Chantrel-Groussard K, Sidi D, Munnich A, Rotig A. Effect of idebenone on cardiomyopa thy in Friedreich's ataxia. Lancet 1999;354:477-9.
-
(1999)
Lancet
, vol.354
, pp. 477-479
-
-
Rustin, P.1
Kleist-Retzow, J.C.V.2
Chantrel-Groussard, K.3
Sidi, D.4
Munnich, A.5
Rotig, A.6
-
99
-
-
1642609549
-
Cell specificity of the molecular defect in Friedreich ataxia
-
Pandolfo M, Montermini L, Cova L, et al. Cell specificity of the molecular defect in Friedreich ataxia. Ann Neurol 1998; 44:472.
-
(1998)
Ann Neurol
, vol.44
, pp. 472
-
-
Pandolfo, M.1
Montermini, L.2
Cova, L.3
-
100
-
-
0033613262
-
Deficit of in vivo mitochondrial ATP production in patients with Friedreich's ataxia
-
Lodi R, Cooper J, Bradley J, et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich's ataxia. Proc Natl Acad Sci USA 1999;96:11492-5.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 11492-11495
-
-
Lodi, R.1
Cooper, J.2
Bradley, J.3
-
101
-
-
0031979898
-
Iron and copper transport in yeast and its relevance to human disease
-
Askwith C, Kaplan J, Iron and copper transport in yeast and its relevance to human disease. Trends Biochem Sci 1998;23:135-8.
-
(1998)
Trends Biochem Sci
, vol.23
, pp. 135-138
-
-
Askwith, C.1
Kaplan, J.2
|