MeSH Review:
Friedreich Ataxia
Pianese,
Busino,
De Biase,
De Cristofaro,
Lo Casale,
Giuliano,
Monticelli,
Turano,
Criscuolo,
Filla,
Varrone,
Cocozza,
Christodoulou,
Deymeer,
Serdaroğlu,
Ozdemir,
Poda,
Georgiou,
Ioannou,
Tsingis,
Zamba,
Middleton,
Bunse,
Bit-Avragim,
Riefflin,
Perrot,
Schmidt,
Kreuz,
Dietz,
Jung,
Osterziel,
Wilson,
Roof,
Rantamäki,
Krahe,
Paetau,
Cormand,
Mononen,
Udd,
Ranum,
Day,
- Familial myoclonic epilepsy with ataxia and neuropathy with additional features of Friedreich's ataxia and peroneal muscular atrophy. Smith, N.J., Espir, M.L., Matthews, W.B. Brain (1978)
- Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. Klockgether, T., Petersen, D., Grodd, W., Dichgans, J. Brain (1991)
- The aetiology of sporadic adult-onset ataxia. Abele, M., Bürk, K., Schöls, L., Schwartz, S., Besenthal, I., Dichgans, J., Zühlke, C., Riess, O., Klockgether, T. Brain (2002)
- Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis. Knight, S.A., Sepuri, N.B., Pain, D., Dancis, A. J. Biol. Chem. (1998)
- Degraded discrimination between speech-like sounds by patients with multiple sclerosis and Friedreich's ataxia. Quine, D.B., Regan, D., Murray, T.J. Brain (1984)
- SCA8 repeat expansions in ataxia: a controversial association. Sobrido, M.J., Cholfin, J.A., Perlman, S., Pulst, S.M., Geschwind, D.H. Neurology (2001)
- Expression and regulation of brain metallothionein. Ebadi, M., Iversen, P.L., Hao, R., Cerutis, D.R., Rojas, P., Happe, H.K., Murrin, L.C., Pfeiffer, R.F. Neurochem. Int. (1995)
- Assessment of in vitro and in vivo mitochondrial function in Friedreich's ataxia and Huntington's disease. Schapira, A., Lodi, R. Methods Mol. Biol. (2004)
- Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Wilson, R.B., Roof, D.M. Nat. Genet. (1997)
- The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase. Carvajal, J.J., Pook, M.A., dos Santos, M., Doudney, K., Hillermann, R., Minogue, S., Williamson, R., Hsuan, J.J., Chamberlain, S. Nat. Genet. (1996)
- Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia. Blass, J.P., Kark, R.A., Menon, N.K. N. Engl. J. Med. (1976)
- GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases. Gacy, A.M., Goellner, G.M., Spiro, C., Chen, X., Gupta, G., Bradbury, E.M., Dyer, R.B., Mikesell, M.J., Yao, J.Z., Johnson, A.J., Richter, A., Melançon, S.B., McMurray, C.T. Mol. Cell (1998)
- Genes involved in hereditary ataxias. Klockgether, T., Evert, B. Trends Neurosci. (1998)
- Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Rustin, P., von Kleist-Retzow, J.C., Chantrel-Groussard, K., Sidi, D., Munnich, A., Rötig, A. Lancet (1999)
- Cerebral glucose hypermetabolism in Friedreich's ataxia detected with positron emission tomography. Gilman, S., Junck, L., Markel, D.S., Koeppe, R.A., Kluin, K.J. Ann. Neurol. (1990)
- Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia. Bunse, M., Bit-Avragim, N., Riefflin, A., Perrot, A., Schmidt, O., Kreuz, F.R., Dietz, R., Jung, W.I., Osterziel, K.J. Ann. Neurol. (2003)
- Manganese Is the Link between Frataxin and Iron-Sulfur Deficiency in the Yeast Model of Friedreich Ataxia. Irazusta, V., Cabiscol, E., Reverter-Branchat, G., Ros, J., Tamarit, J. J. Biol. Chem. (2006)
- Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction. Gibson, T.J., Koonin, E.V., Musco, G., Pastore, A., Bork, P. Trends Neurosci. (1996)
- Pathogenic RNA repeats: an expanding role in genetic disease. Ranum, L.P., Day, J.W. Trends Genet. (2004)
- Up-regulation of c-Jun N-terminal kinase pathway in Friedreich's ataxia cells. Pianese, L., Busino, L., De Biase, I., De Cristofaro, T., Lo Casale, M.S., Giuliano, P., Monticelli, A., Turano, M., Criscuolo, C., Filla, A., Varrone, S., Cocozza, S. Hum. Mol. Genet. (2002)
- Friedreich's ataxia. Revision of the phenotype according to molecular genetics. Schöls, L., Amoiridis, G., Przuntek, H., Frank, G., Epplen, J.T., Epplen, C. Brain (1997)
- Pyruvate carboxylase activity is not abnormal in fibroblasts of patients with Friedreich's ataxia. Dijkstra, U.J., Trijbels, J.M., Ruitenbeek, W., Bakkeren, J.A., Janssen, A.J., Gabreëls, F.J., Joosten, E.M. Ann. Neurol. (1984)
- Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Priller, J., Scherzer, C.R., Faber, P.W., MacDonald, M.E., Young, A.B. Ann. Neurol. (1997)
- 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, J.J., Pandolfo, M., Monrós, E., Cocozza, S., Smeyers, P., Lopez-Arlandis, J., Campanella, G., Di Donato, S. Ann. Neurol. (1995)
- Skeletal muscle NAD+(P) and NADP+-dependent malic enzyme in Friedreich's ataxia. Bottacchi, E., Di Donato, S. Neurology (1983)
- CCC1 suppresses mitochondrial damage in the yeast model of Friedreich's ataxia by limiting mitochondrial iron accumulation. Chen, O.S., Kaplan, J. J. Biol. Chem. (2000)
- Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Christodoulou, K., Deymeer, F., Serdaroğlu, P., Ozdemir, C., Poda, M., Georgiou, D.M., Ioannou, P., Tsingis, M., Zamba, E., Middleton, L.T. Neurogenetics (2001)
- Plasma lipoprotein lipase and hepatic lipase activities in Friedreich's ataxia. Blache, D., Bouthillier, D., Barbeau, A., Davignon, J. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (1982)
- Pituitary responses to a neuroactive tripeptide (TRH) in Friedreich's ataxia families. Tolis, G., Mehta, A., Andermann, E., Harvey, C., Barbeau, A. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. (1982)
- The role of the mitochondrion in cellular iron homeostasis. Schueck, N.D., Woontner, M., Koeller, D.M. Mitochondrion (2001)
- Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. Rantamäki, M., Krahe, R., Paetau, A., Cormand, B., Mononen, I., Udd, B. Neurology (2001)
- Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients. De Michele, G., Perrone, F., Filla, A., Mirante, E., Giordano, M., De Placido, S., Campanella, G. Neurology (1996)
- Cardiac transplantation: a temporary solution for Friedreich's ataxia-induced dilated cardiomyopathy. Sedlak, T.L., Chandavimol, M., Straatman, L. J. Heart Lung Transplant. (2004)
- Case report: echocardiographic observations in patients with Friedreich's ataxia. Weiss, E., Kronzon, I., Winer, H.E., Berger, A.R. Am. J. Med. Sci. (1981)