Francesca Madia
Istituto Giannina Gaslini(IT)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Epilepsy research and treatment, Peripheral Neuropathies and Disorders, Hereditary Neurological Disorders
Most-Cited Works
- → Spectrum ofSCN1Amutations in severe myoclonic epilepsy of infancy(2003)245 cited
- → TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy(2010)156 cited
- → Pure motor chronic inflammatory demyelinating polyneuropathy(2001)109 cited
- → Natural history of young-adult amyotrophic lateral sclerosis(2008)99 cited
- → Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations(2007)92 cited
- → Diagnostic implications of genetic copy number variation in epilepsy plus(2019)84 cited
- → Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease(2006)81 cited
- → Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy(2006)79 cited
- → Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity(2001)73 cited
- → TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients(2012)56 cited