Concepedia

Antonella Spinazzola

AS

Statistics

Publications

49

Citations

4.9K

H-Index

33

Active since

1975

Affiliations

University College London(Current)

National Hospital for Neurology and Neurosurgery

Fondazione IRCCS Istituto Neurologico Carlo Besta

The Royal Free Hospital

Columbia University

Antonella Spinazzola is an author at University College London specializing in life sciences, mitochondrial disorders, and mitochondrial disease.

ORCID

Publications per year

1975–2024

49

Publications

49

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 900 citations

, , +17

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 · 418 citations

, , +8

Systematic identification of human mitochondrial disease genes through integrative genomics

Sarah E. Calvo, Mohit Jain, Xiaohui Xie et al. · Nature Genetics · 2006 · 344 citations

, , +12

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

Ichizo Nishino, Antonella Spinazzola, Alexandros Papadimitriou et al. · Annals of Neurology · 2000 · 343 citations

, , +17

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Antonella Spinazzola, Ramón Martí, Ichizo Nishino et al. · Journal of Biological Chemistry · 2002 · 236 citations · Full text

, , +16

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