Concepedia

Antonella Spinazzola

AS

48

Publications

4.8K

Citations

33

H-Index

1975

Active since

Affiliations

University College London(Current)

National Hospital for Neurology and Neurosurgery

Fondazione IRCCS Istituto Neurologico Carlo Besta

Columbia University

The Royal Free Hospital

Antonella Spinazzola is an author at University College London specializing in medicine, mitochondrial function, and genetics.

Top concepts

MedicineMitochondrial FunctionGeneticsMolecular BiologyMolecular GeneticsPathologyMitochondrial MyopathyMetabolismDna ReplicationNeurology

Publications per year

1975–2022

48

Publications

48

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 892 citations

Mitochondrial Myopathy, Mendelian Disorder, Mitochondrial Function +14

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra et al. · Nature Genetics · 2006 · 416 citations

Mitochondrial Biogenesis, Mitochondrial Function, Natural Sciences +7

Systematic identification of human mitochondrial disease genes through integrative genomics

Sarah E. Calvo, Mohit Jain, Xiaohui Xie et al. · Nature Genetics · 2006 · 343 citations

Systematic Identification, Genetic Analysis, Functional Genomics +9

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

Ichizo Nishino, Antonella Spinazzola, Alexandros Papadimitriou et al. · Annals of Neurology · 2000 · 342 citations

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Antonella Spinazzola, Ramón Martí, Ichizo Nishino et al. · Journal of Biological Chemistry · 2002 · 234 citations · Full text

Rows per page

1–5 of 48