-
1
-
-
0019782799
-
Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features
-
Harding, A.E. (1981) Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features. Brain, 104, 589-620.
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
2
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Dürr, A., Cossée, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A. and Koenig, M. (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med., 335, 1169-1175.
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1169-1175
-
-
Dürr, A.1
Cossée, M.2
Agid, Y.3
Campuzano, V.4
Mignard, C.5
Penet, C.6
Mandel, J.-L.7
Brice, A.8
Koenig, M.9
-
3
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla, A., De Michele, G., Cavalcanti, F., Pianese, L., Monticelli, A., Campanella, G. and Cocozza, S. (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am. J. Hum. Genet., 59, 554-560.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
Pianese, L.4
Monticelli, A.5
Campanella, G.6
Cocozza, S.7
-
4
-
-
17144467700
-
Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
-
Montermini, L., Richter, A., Morgan, K., Justice, C.M., Julien, D., Castelloti, B., Mercier, J., Poirier, J., Capazzoli, F., Bouchard, J.P. et al. (1997) Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann. Neurol., 41, 675-682.
-
(1997)
Ann. Neurol.
, vol.41
, pp. 675-682
-
-
Montermini, L.1
Richter, A.2
Morgan, K.3
Justice, C.M.4
Julien, D.5
Castelloti, B.6
Mercier, J.7
Poirier, J.8
Capazzoli, F.9
Bouchard, J.P.10
-
5
-
-
0030862745
-
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
-
Monros, E., Moltó, M.D., Martinez, F., Canizares, J., Blanca, J., Vilchez, J.J., Prieto, F., de Frutos, R. and Palau, F. (1997) Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am. J. Hum. Genet., 61, 101-110.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 101-110
-
-
Monros, E.1
Moltó, M.D.2
Martinez, F.3
Canizares, J.4
Blanca, J.5
Vilchez, J.J.6
Prieto, F.7
De Frutos, R.A.8
Palau, F.9
-
6
-
-
0342367897
-
-
Adams, J.H., Corsellis, J.A.N. and Duchen, L.W. (eds), Arnold, London
-
Oppenheimer, D.R. (1984) In Adams, J.H., Corsellis, J.A.N. and Duchen, L.W. (eds), Greenfield's Neuropathology. Arnold, London, pp. 719-723.
-
(1984)
Greenfield's Neuropathology
, pp. 719-723
-
-
Oppenheimer, D.R.1
-
7
-
-
13344270899
-
Friedreich ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V., Montermini, L., Moltó, M.D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A. et al. (1996) Friedreich ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 271, 1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltó, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
8
-
-
0030296878
-
Friedreich's ataxia protein: Bacterial homologs point to mitochondrial dysfunction
-
Gibson, T.J., Koonin, E.V., Musco, G., Pastore, A. and Bork, P. (1996) Friedreich's ataxia protein: bacterial homologs point to mitochondrial dysfunction. Trends Neurosci., 19, 465-468.
-
(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
-
9
-
-
0030813487
-
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
-
Koutnikova, H., Campuzano, V., Foury, F., Dollé, P., Cazzalini, O. and Koenig, M. (1997) Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nature Genet., 16, 345-351.
-
(1997)
Nature Genet.
, vol.16
, pp. 345-351
-
-
Koutnikova, H.1
Campuzano, V.2
Foury, F.3
Dollé, P.4
Cazzalini, O.5
Koenig, M.6
-
10
-
-
0030826433
-
Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo
-
Jiralerspong, S., Liu, Y., Montermini, L., Stifani, S. and Pandolfo, M. (1997) Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiol. Dis., 4, 103-113.
-
(1997)
Neurobiol. Dis.
, vol.4
, pp. 103-113
-
-
Jiralerspong, S.1
Liu, Y.2
Montermini, L.3
Stifani, S.4
Pandolfo, M.5
-
11
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano, V., Montermini, L., Lutz, Y., Cova, L., Hindelang, C., Jiralerspong, S., Trottier, Y., Kish, S.J., Faucheux, B., Trouillas, P. et al. (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Mol. Genet., 6, 1771-1780.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
Cova, L.4
Hindelang, C.5
Jiralerspong, S.6
Trottier, Y.7
Kish, S.J.8
Faucheux, B.9
Trouillas, P.10
-
12
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani, S., Ashizawa, T. and Patel, P.I. (1998) The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet., 62, 111-121.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 111-121
-
-
Bidichandani, S.1
Ashizawa, T.2
Patel, P.I.3
-
13
-
-
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, R.D. and Pandolfo, M. (1998) 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., 273, 14588-14595.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 14588-14595
-
-
Ohshima, K.1
Montermini, L.2
Wells, R.D.3
Pandolfo, M.4
-
14
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfh1, a putative homolog of frataxin
-
Babcock, M., de Silva, D., Oaks, R., Davis-Kaplan, S., Jiralerspong, S., Montermini, L., Pandolfo, M. and Kaplan, J. (1997) Regulation of mitochondrial iron accumulation by Yfh1, a putative homolog of frataxin. Science, 216, 1709-1712.
-
(1997)
Science
, vol.216
, pp. 1709-1712
-
-
Babcock, M.1
De Silva, D.2
Oaks, R.3
Davis-Kaplan, S.4
Jiralerspong, S.5
Montermini, L.6
Pandolfo, M.7
Kaplan, J.8
-
15
-
-
0030825723
-
Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue
-
Wilson, R.B. and Roof, D.M. (1997) Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nature Genet., 16, 352-357.
-
(1997)
Nature Genet.
, vol.16
, pp. 352-357
-
-
Wilson, R.B.1
Roof, D.M.2
-
16
-
-
0031567601
-
Deletion of the yeast homologue of the human gene associated with Friedeich's ataxia elicits iron accumulation in mitochondria
-
Foury, F. and Cazzalini, O. (1997) Deletion of the yeast homologue of the human gene associated with Friedeich's ataxia elicits iron accumulation in mitochondria. FEBS Lett., 411, 373-377.
-
(1997)
FEBS Lett.
, vol.411
, pp. 373-377
-
-
Foury, F.1
Cazzalini, O.2
-
17
-
-
0001787556
-
-
Lechtenberg, R. (ed.). Marcel Dekker, New York, NY
-
Lamarche, J.B., Shapcott, D., Côté, M. and Lemieux, B. (1993) In Lechtenberg, R. (ed.). Handbook of Cerebellar Diseases. Marcel Dekker, New York, NY, pp. 453-458.
-
(1993)
Handbook of Cerebellar Diseases
, pp. 453-458
-
-
Lamarche, J.B.1
Shapcott, D.2
Côté, M.3
Lemieux, B.4
-
18
-
-
0031253821
-
Frataxin gene expansion causes aconilase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia
-
Rötig, A., deLonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A. and Rustin, P. (1997) Frataxin gene expansion causes aconilase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia. Nature Genet., 17, 215-217.
-
(1997)
Nature Genet.
, vol.17
, pp. 215-217
-
-
Rötig, A.1
DeLonlay, P.2
Chretien, D.3
Foury, F.4
Koenig, M.5
Sidi, D.6
Munnich, A.7
Rustin, P.8
-
19
-
-
0032800601
-
Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain
-
Foury, F. (1999) Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain. FEBS Lett., 456, 281-284.
-
(1999)
FEBS Lett.
, vol.456
, pp. 281-284
-
-
Foury, F.1
-
20
-
-
0344820730
-
Friedreich ataxia: Point mutations and clinical presentation of compound heterozygotes
-
Cossée, M., Dürr, A., Schmitt, M., Dahl, N., Trouillas, P., Allinson, P., Kostrzewa, M., Nivelon-Chevallier, A., Guslavson, K.H., Kohlschütter, A. et al. (1999) Friedreich ataxia: point mutations and clinical presentation of compound heterozygotes. Ann. Neurol., 45, 200-206.
-
(1999)
Ann. Neurol.
, vol.45
, pp. 200-206
-
-
Cossée, M.1
Dürr, A.2
Schmitt, M.3
Dahl, N.4
Trouillas, P.5
Allinson, P.6
Kostrzewa, M.7
Nivelon-Chevallier, A.8
Guslavson, K.H.9
Kohlschütter, A.10
-
21
-
-
0342813045
-
Deciphering the cause of Friedreich ataxia
-
Koenig, M. and Mandel, J.-L. (1997) Deciphering the cause of Friedreich ataxia. Curr. Opin. Neurobiol., 7, 689-694.
-
(1997)
Curr. Opin. Neurobiol.
, vol.7
, pp. 689-694
-
-
Koenig, M.1
Mandel, J.-L.2
-
22
-
-
0030931720
-
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
-
Schrank, B., Gotz, R., Gunnersen, J.M., Ure, J.M., Toyka, K.V., Smith, A.C. and Sendtner, M. (1997) Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl Acad. Sci. USA, 94, 9920-9925.
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 9920-9925
-
-
Schrank, B.1
Gotz, R.2
Gunnersen, J.M.3
Ure, J.M.4
Toyka, K.V.5
Smith, A.C.6
Sendtner, M.7
-
23
-
-
0025318323
-
Development, morphology, and function of the yolksac placenta of laboratory rodents
-
Jollie, W.P. (1990) Development, morphology, and function of the yolksac placenta of laboratory rodents. Teratology, 41, 361-381.
-
(1990)
Teratology
, vol.41
, pp. 361-381
-
-
Jollie, W.P.1
-
25
-
-
0002407742
-
Frataxin is an iron storage protein
-
Isaya, G., Adamec, J., Rusnak, F., Owen, W.G., Naylor, S. and Benson, L.M. (1999) Frataxin is an iron storage protein. Am. J. Hum. Genet., 65 (suppl.), A167.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, Issue.SUPPL.
-
-
Isaya, G.1
Adamec, J.2
Rusnak, F.3
Owen, W.G.4
Naylor, S.5
Benson, L.M.6
-
26
-
-
0033565665
-
The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins
-
Kispal, G., Csere, P., Prohl, C. and Lill, R. (1999) The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins. EMBO J., 18, 3981-3989.
-
(1999)
EMBO J.
, vol.18
, pp. 3981-3989
-
-
Kispal, G.1
Csere, P.2
Prohl, C.3
Lill, R.4
-
27
-
-
0032540929
-
Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis
-
Knight, S.A.B., Sepuri, N.B.V., Pain, D. and Dancis, A. (1998) Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis. J. Biol. Chem., 273, 18389-18393.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 18389-18393
-
-
Knight, S.A.B.1
Sepuri, N.B.V.2
Pain, D.3
Dancis, A.4
-
28
-
-
0001486362
-
-
Klug, S. and Thiel, R. (eds). Blackwell Science, Oxford, UK
-
Dierich, A. and Dolle, P. (1997) In Klug, S. and Thiel, R. (eds). Methods in Developmental Toxicology and Biology. Blackwell Science, Oxford, UK, pp. 111-123.
-
(1997)
Methods in Developmental Toxicology and Biology
, pp. 111-123
-
-
Dierich, A.1
Dolle, P.2
-
29
-
-
0004136246
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd Edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(1989)
Molecular Cloning: A Laboratory Manual, 2nd Edn.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
|