Arcangela Iuso
TUM Klinikum(DE)Helmholtz Zentrum München(DE)Technical University of Munich(DE)
Publications by Year
Research Areas
Neurological diseases and metabolism, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Porphyrin Metabolism and Disorders, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Genetic diagnosis of Mendelian disorders via RNA sequencing(2017)584 cited
- → Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation(2011)262 cited
- → Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency(2010)249 cited
- → Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease(2013)230 cited
- → Monogenic variants in dystonia: an exome-wide sequencing study(2020)206 cited
- → Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing(2012)184 cited
- → Dysfunctions of Cellular Oxidative Metabolism in Patients with Mutations in the NDUFS1 and NDUFS4 Genes of Complex I