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168 results
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Intronic GAA triplet repeat expansion in Friedreich's ataxia presenting with pure sensory ataxia.
Berciano J, Combarros O, De Castro M, Palau F. Berciano J, et al. Among authors: palau f. J Neurol. 1997 Jun;244(6):390-1. doi: 10.1007/s004150050109. J Neurol. 1997. PMID: 9249627 No abstract available.
Incipient GAA repeats in the primate Friedreich ataxia homologous genes.
González-Cabo P, Sánchez MI, Cañizares J, Blanca JM, Martínez-Arias R, De Castro M, Bertranpetit J, Palau F, Moltó MD, de Frutos R. González-Cabo P, et al. Among authors: palau f. Mol Biol Evol. 1999 Jun;16(6):880-3. doi: 10.1093/oxfordjournals.molbev.a026173. Mol Biol Evol. 1999. PMID: 10368965 No abstract available.
GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.
Cruz-Martínez A, Anciones B, Palau F. Cruz-Martínez A, et al. Among authors: palau f. Muscle Nerve. 1997 Sep;20(9):1121-6. doi: 10.1002/(sici)1097-4598(199709)20:9<1121::aid-mus5>3.0.co;2-a. Muscle Nerve. 1997. PMID: 9270667
Classical Friedreich's ataxia and its genotype.
Martin J, Martin L, Löfgren A, D'Hooghe M, Storm K, Balemans W, Palau F, Van Broeckhoven C. Martin J, et al. Among authors: palau f. Eur Neurol. 1999;42(2):109-15. doi: 10.1159/000069420. Eur Neurol. 1999. PMID: 10473983
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Among authors: palau f. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916
Molecular analysis of the Friedreich's ataxia locus.
Chamberlain S, Koenig M, Richter A, Palau F, Pandolfo M. Chamberlain S, et al. Among authors: palau f. Adv Neurol. 1993;61:193-204. Adv Neurol. 1993. PMID: 8421969 Review. No abstract available.
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, Monrós E, Cocozza S, Smeyers P, Lopez-Arlandis J, Campanella G, Di Donato S, et al. Palau F, et al. Ann Neurol. 1995 Mar;37(3):359-62. doi: 10.1002/ana.410370312. Ann Neurol. 1995. PMID: 7695235
Genetic diagnosis of Friedreich's ataxia.
Palau F, Monros E, Prieto F, Vilchez JJ, Lopez-Arlandis JM. Palau F, et al. Lancet. 1991 Oct 26;338(8774):1087. doi: 10.1016/0140-6736(91)91950-y. Lancet. 1991. PMID: 1681394 No abstract available.
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat.
Monrós E, Moltó MD, Martínez F, Cañizares J, Blanca J, Vílchez JJ, Prieto F, de Frutos R, Palau F. Monrós E, et al. Among authors: palau f. Am J Hum Genet. 1997 Jul;61(1):101-10. doi: 10.1086/513887. Am J Hum Genet. 1997. PMID: 9245990 Free PMC article.
Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish population.
Monrós E, Cañizares J, Moltó MD, Rodius F, Montermini L, Cossée M, Martínez F, Prieto F, de Frutos R, Koenig M, Pandolfo M, Bertranpetit J, Palau F. Monrós E, et al. Among authors: palau f. Eur J Hum Genet. 1996;4(4):191-8. doi: 10.1159/000472198. Eur J Hum Genet. 1996. PMID: 8875184
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