Luigi Pianese

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 · 2.8K citations

Life Sciences, Genetics, Molecular Genetics +17

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Alessandro Filla, Giuseppe De Michele, Francesca Cavalcanti et al. · PubMed · 1996 · 475 citations

Medicine, Molecular Genetics, Neurology +9

Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.

Giuseppe De Michele, Alessandro Filla, Francesca Cavalcanti et al. · Journal of Neurology Neurosurgery & Psychiatry · 1994 · 112 citations · Full text

Life Sciences, Genetics, Neurology +9

Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers

Luigi Pianese · Journal of Neurology Neurosurgery & Psychiatry · 2004 · 78 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's Ataxia

Giovanna De Michele, Francesca Cavalcanti, Chiara Criscuolo et al. · Human Molecular Genetics · 1998 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14