Jaume Campistol
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Epilepsy research and treatment, Neurological and metabolic disorders, Folate and B Vitamins Research
Most-Cited Works
- → De novo mutations in ATP1A3 cause alternating hemiplegia of childhood(2012)418 cited
- → A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins(2011)279 cited
- → Phenotype and genotype in 101 males with X-linked creatine transporter deficiency(2013)162 cited
- → Validation of FDG-PET/MRI coregistration in nonlesional refractory childhood epilepsy(2011)83 cited
- → Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients(2012)42 cited
- → Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease(2012)33 cited
- → Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S(2003)30 cited
- → An atypical French form of pyruvate carboxylase deficiency(1995)25 cited
- → CT Scan Appearance in Subacute Necrotising Encephalo‐myelopathy(1984)20 cited
- → Phenotype and Genotype Heterogeneity in Mediterranean Citrullinemia(2001)18 cited