Laura Montermini

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.7K citations

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Michael Babcock, Deepika de Silva, Robert Oaks et al. · Science · 1997 · 918 citations

Iron Metabolism, Genetics, Putative Homolog +19

Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

Victoria Campuzano, Laura Montermini, Yves Lutz et al. · Human Molecular Genetics · 1997 · 734 citations

Mitophagy, Pathology, Cell Death +16

Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Mireille Coss�e, Alexandra D�rr, Mich�le Schmitt et al. · Annals of Neurology · 1999 · 382 citations

Inhibitory Effects of Expanded GAA·TTC Triplet Repeats from Intron I of the Friedreich Ataxia Gene on Transcription and Replicationin Vivo

Keiichi Ohshima, Laura Montermini, Robert D. Wells et al. · Journal of Biological Chemistry · 1998 · 306 citations · Full text

Genetics, Genomic Mechanism, Molecular Biology +20