-
2
-
-
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
-
3
-
-
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: 1169-1175.
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1169-1175
-
-
Durr, A.1
Cossee, M.2
Agid, Y.3
-
4
-
-
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: 1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
5
-
-
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: 1771-1780.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
-
6
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova H, Campuzano V, Foury F, et al. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 1997; 16: 345-351.
-
(1997)
Nat. Genet.
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
-
7
-
-
0031009267
-
Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
-
Epplen C, Epplen JT, Frank G, et al. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 1997; 99: 834-836.
-
(1997)
Hum. Genet.
, vol.99
, pp. 834-836
-
-
Epplen, C.1
Epplen, J.T.2
Frank, G.3
-
8
-
-
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, et al. 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: 14588-14595.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 14588-14595
-
-
Ohshima, K.1
Montermini, L.2
Wells, R.D.3
-
9
-
-
0034660695
-
The GAA.TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
-
Grabczyk E, Usdin K. The GAA.TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res 2000; 28: 2815-2822.
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
10
-
-
0035920101
-
Sticky DNA, a self-associated complex formed at long GAA.TTG repeats in intron 1 of the frataxin gene, inhibits transcription
-
Sakamoto N, Ohshima K, Montermini L, et al. Sticky DNA, a self-associated complex formed at long GAA.TTG repeats in intron 1 of the frataxin gene, inhibits transcription, J Biol Chem 2001; 276 27171-27177.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 27171-27177
-
-
Sakamoto, N.1
Ohshima, K.2
Montermini, L.3
-
11
-
-
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: 554-560.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
12
-
-
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: 101-110.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 101-110
-
-
Monros, E.1
Molto, M.D.2
Martinez, F.3
-
13
-
-
0034192352
-
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation
-
Cossee M, Puccio H, Gansmuller A, et al. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet 2000; 9: 1219-1226.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1219-1226
-
-
Cossee, M.1
Puccio, H.2
Gansmuller, A.3
-
14
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
-
Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997; 276: 1709-1712.
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, M.1
de Silva, D.2
Oaks, R.3
-
15
-
-
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: 215-217.
-
(1997)
Nat. Genet.
, vol.17
, pp. 215-217
-
-
Rotig, A.1
de Lonlay, P.2
Chretien, D.3
-
16
-
-
0030825723
-
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
-
Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet 1997; 16: 352-357.
-
(1997)
Nat. Genet.
, vol.16
, pp. 352-357
-
-
Wilson, R.B.1
Roof, D.M.2
-
17
-
-
0034641851
-
Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae
-
Cavadini P, Gellera C, Patel PI, et al. Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae, Hum Mol Genet 2000; 9: 2523-2530.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2523-2530
-
-
Cavadini, P.1
Gellera, C.2
Patel, P.I.3
-
18
-
-
0035138072
-
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
-
Puccio H, Simon D, Cossee M, et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 2001; 27: 181-186.
-
(2001)
Nat. Genet.
, vol.27
, pp. 181-186
-
-
Puccio, H.1
Simon, D.2
Cossee, M.3
-
19
-
-
0032863136
-
Molecular pathogenesis of Friedreich ataxia
-
Pandolfo M. Molecular pathogenesis of Friedreich ataxia. Arch Neurol 1999; 56: 1201-1208.
-
(1999)
Arch. Neurol.
, vol.56
, pp. 1201-1208
-
-
Pandolfo, M.1
-
20
-
-
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: 4497-4499.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 4497-4499
-
-
Radisky, D.C.1
Babcock, M.C.2
Kaplan, J.3
-
21
-
-
0033533071
-
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
-
Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999; 354: 477-479.
-
(1999)
Lancet
, vol.354
, pp. 477-479
-
-
Rustin, P.1
von Kleist-Retzow, J.C.2
Chantrel-Groussard, K.3
-
22
-
-
0035020940
-
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
-
Lodi R, Hart PE, Rajagopalan B, et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol 2001; 49: 590-596.
-
(2001)
Ann. Neurol.
, vol.49
, pp. 590-596
-
-
Lodi, R.1
Hart, P.E.2
Rajagopalan, B.3
-
23
-
-
0035865087
-
A physical map of the human genome
-
McPherson JD, Marra M, Hillier L, et al. A physical map of the human genome. Nature 2001; 409: 934-941.
-
(2001)
Nature
, vol.409
, pp. 934-941
-
-
McPherson, J.D.1
Marra, M.2
Hillier, L.3
-
24
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001; 291: 1304-1351.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
-
25
-
-
0026703169
-
Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector
-
Shizuya H, Birren B, Kim UJ, et al. Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. Proc Natl Acad Sci U S A 1992; 89: 8794-8797.
-
(1992)
Proc. Natl. Acad. Sci. U. S. A.
, vol.89
, pp. 8794-8797
-
-
Shizuya, H.1
Birren, B.2
Kim, U.J.3
-
26
-
-
0028318417
-
A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
-
Ioannou PA, Amemiya CT, Garnes J, et al. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat Genet 1994; 6: 84-89.
-
(1994)
Nat. Genet.
, vol.6
, pp. 84-89
-
-
Ioannou, P.A.1
Amemiya, C.T.2
Garnes, J.3
-
27
-
-
0033002084
-
Efficient and precise engineering of a 200 kb beta-globin human/bacterial artificial chromosome in E. coli DH10B using an inducible homologous recombination system
-
Narayanan K, Williamson R, Zhang Y, et al. Efficient and precise engineering of a 200 kb beta-globin human/bacterial artificial chromosome in E. coli DH10B using an inducible homologous recombination system. Gene Ther 1999; 6: 442-447.
-
(1999)
Gene Ther.
, vol.6
, pp. 442-447
-
-
Narayanan, K.1
Williamson, R.2
Zhang, Y.3
-
28
-
-
0033559118
-
Rapid modification of bacterial artificial chromosomes by ET-recombination
-
Muyrers JP, Zhang Y, Testa G, et al. Rapid modification of bacterial artificial chromosomes by ET-recombination. Nucleic Acids Res 1999; 27: 1555-1557.
-
(1999)
Nucleic Acids Res.
, vol.27
, pp. 1555-1557
-
-
Muyrers, J.P.1
Zhang, Y.2
Testa, G.3
-
29
-
-
0034664757
-
Engineering EGFP reporter constructs into a 200 kb human beta-globin BAC clone using GET Recombination
-
Orford M, Nefedov M, Vadolas J, et al. Engineering EGFP reporter constructs into a 200 kb human beta-globin BAC clone using GET Recombination. Nucleic Acids Res 2000; 28: e84.
-
(2000)
Nucleic Acids Res.
, vol.28
-
-
Orford, M.1
Nefedov, M.2
Vadolas, J.3
-
30
-
-
14644433206
-
-
Available
-
Available: http://pingu.salk.edu/software.html.
-
-
-
-
31
-
-
0033453239
-
Attenuation of green fluorescent protein half-life in mammalian cells
-
Corish P, Tyler-Smith C. Attenuation of green fluorescent protein half-life in mammalian cells. Protein Eng 1999; 12: 1035-1040.
-
(1999)
Protein Eng.
, vol.12
, pp. 1035-1040
-
-
Corish, P.1
Tyler-Smith, C.2
-
32
-
-
17044452177
-
Insertion of disease-causing mutations in BACs by homologous recombination in Escherichia coli
-
Nefedov M, Williamson R, Ioannou PA. Insertion of disease-causing mutations in BACs by homologous recombination in Escherichia coli. Nucleic Acids Res 2000; 28: e79.
-
(2000)
Nucleic Acids Res.
, vol.28
-
-
Nefedov, M.1
Williamson, R.2
Ioannou, P.A.3
-
33
-
-
0034672110
-
Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats
-
Grabczyk E, Usdin K. Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats. Nucleic Acids Res 2000; 28: 4930-4937.
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 4930-4937
-
-
Grabczyk, E.1
Usdin, K.2
|