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A gene expression phenotype in lymphocytes from Friedreich ataxia patients.
Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, Rai M, Saccá F, Filla A, Lynch DR, Rusche JR, Gottesfeld JM, Pandolfo M, Geschwind DH. Coppola G, et al. Among authors: filla a. Ann Neurol. 2011 Nov;70(5):790-804. doi: 10.1002/ana.22526. Ann Neurol. 2011. PMID: 22162061 Free PMC article.
Friedreich's disease. A linkage study in southern and central Italy.
Cavalcanti F, Cocozza S, Filla A, De Michele G, Pianese L, Porcellini A, Monticelli A, Pandolfo M, Banfi S, Varrone S, et al. Cavalcanti F, et al. Among authors: filla a. Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):519-23. Acta Neurol (Napoli). 1992. PMID: 1363458
Late onset recessive ataxia with Friedreich's disease phenotype.
De Michele G, Filla A, Barbieri F, Perretti A, Santoro L, Trombetta L, Santorelli F, Campanella G. De Michele G, et al. Among authors: filla a. J Neurol Neurosurg Psychiatry. 1989 Dec;52(12):1398-401. doi: 10.1136/jnnp.52.12.1398. J Neurol Neurosurg Psychiatry. 1989. PMID: 2614435 Free PMC article.
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: filla a. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, Cavalcanti F, Pianese L, Iodice L, Farina G, Monticelli A, Turano M, Filla A, De Michele G, Cocozza S. Montermini L, et al. Among authors: filla a. Hum Mol Genet. 1997 Aug;6(8):1261-6. doi: 10.1093/hmg/6.8.1261. Hum Mol Genet. 1997. PMID: 9259271
336 results