Carmen Fons
Hospital Sant Joan de Déu Barcelona(ES)Centre for Biomedical Network Research on Rare Diseases(ES)Sant Joan de Déu Research Foundation(ES)Institut de Recerca Sant Joan de Déu
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Ion Transport and Channel Regulation, Genomics and Rare Diseases
Most-Cited Works
- → De novo mutations in ATP1A3 cause alternating hemiplegia of childhood(2012)418 cited
- → Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients(2015)153 cited
- → The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications(2022)145 cited
- → Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults(2010)143 cited
- → Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening(2007)77 cited
- → Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment(2015)65 cited