Francesca Madia

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Spectrum of<i>SCN1A</i>mutations in severe myoclonic epilepsy of infancy

Rima Nabbout, Elena Di Gennaro, Bernardo Dalla Bernardina et al. · Neurology · 2003 · 245 citations

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace, Fabia Filipello, Veronica La Padula et al. · The American Journal of Human Genetics · 2010 · 156 citations · Full text

Is Mutated, Arf6-interacting Protein, Genetic Disorder +6

Pure motor chronic inflammatory demyelinating polyneuropathy

Mario Sabatelli, Francesca Madia, T Mignogna et al. · Journal of Neurology · 2001 · 109 citations

Neurological Disorder, Medicine, Rehabilitation +5

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

Pasquale Striano, Maria Margherita Mancardi, Roberta Biancheri et al. · Epilepsia · 2007 · 92 citations · Full text