Maria Piane
CTO Andrea Alesini(IT)Azienda Ospedaliera Sant'Andrea(IT)Sapienza University of Rome(IT)
Publications by Year
Research Areas
BRCA gene mutations in cancer, DNA Repair Mechanisms, Cardiomyopathy and Myosin Studies, Genomics and Rare Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants(1998)256 cited
- → Ataxia with oculomotor apraxia type 2(2006)121 cited
- → The novel human gene aprataxin is directly involved in DNA single-strand-break repair(2005)82 cited
- → Genetics of migraine and pharmacogenomics: some considerations(2007)62 cited
- → Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings(2021)59 cited
- → Role of senataxin in DNA damage and telomeric stability(2010)42 cited
- → Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the gene