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Human Molecular Genetics|January 1, 1995
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutationsE Verderio, P Cavadini, L Montermini, et al.Science (New York, N.Y.)|June 13, 1997
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxinM Babcock, D de Silva, R Oaks, et al.Neurology|November 24, 1999
A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesisK Ohshima, N Sakamoto, M Labuda, et al.American Journal of Human Genetics|November 1, 1995
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13L Montermini, F Rodius, L Pianese, et al.Journal of Thrombosis and Haemostasis : JTH|July 5, 2018
Leukocytes as a reservoir of circulating oncogenic DNA and regulatory targets of tumor-derived extracellular vesiclesS Chennakrishnaiah, B Meehan, E D'Asti, et al.European Journal of Human Genetics : EJHG|January 1, 1996
Evidence for a common origin of most Friedreich ataxia chromosomes in the Spanish populationE Monrós, J Cañizares, M D Moltó, et al.Human Molecular Genetics|August 1, 1997
The Friedreich ataxia GAA triplet repeat: premutation and normal allelesL Montermini, E Andermann, M Labuda, et al.Human Molecular Genetics|September 25, 1997
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranesV Campuzano, L Montermini, Y Lutz, et al.The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|December 20, 2012
Diversity of ARSACS mutations in French-CanadiansI Thiffault, M J Dicaire, M Tetreault, et al.Annals of Neurology|May 1, 1997
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansionL Montermini, A Richter, K Morgan, et al.Pageof 3