Marina Frontali
Istituto di Farmacologia Traslazionale(IT)National Research Council(IT)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Neurological disorders and treatments, Hereditary Neurological Disorders, DNA Repair Mechanisms
Most-Cited Works
- → Trinucleotide repeat length instability and age of onset in Huntington's disease(1993)1,091 cited
- → Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36(2001)486 cited
- Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats(1996)
- → CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion(2012)386 cited
- → Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28(2010)341 cited
- → Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p(1997)292 cited
- Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.