Elide Mantuano
Directorate-General for Interpretation(BE)Istituto di Farmacologia Traslazionale(IT)National Research Council(IT)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Ion channel regulation and function, Neurological disorders and treatments, Parkinson's Disease Mechanisms and Treatments
Most-Cited Works
- → 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
- → X–linked thrombocytopenia and Wiskott–Aldrich syndrome are allelic diseases with mutations in the WASP gene(1995)281 cited
- → Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2(2001)156 cited
- → Anaemia and resistance to erythropoiesis-stimulating agents as prognostic factors in haemodialysis patients: results from the RISCAVID study(2011)154 cited
- → Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2(2010)87 cited
- → Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.(1994)76 cited