Antoni L. Andreu

Statistics

Publications

136

Citations

H-Index

Active since

1998

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Vall d'Hebron Institut de Recerca

Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red

Universidad Europea de Madrid

Antoni L. Andreu is an author at Centre for Biomedical Network Research on Rare Diseases specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1998–2023

136

Publications

136

Exercise Intolerance Due to Mutations in the Cytochrome<i>b</i>Gene of Mitochondrial DNA

Antoni L. Andreu, Michael G. Hanna, Heinz Reichmann et al. · New England Journal of Medicine · 1999 · 424 citations

Life Sciences, Genetics, Molecular Genetics +15

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

Life Sciences, Genetics, Neurology +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

Life Sciences, Biochemistry, Genetics +16

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA <sup>Ser(UCN)</sup> gene

Carolyn M. Sue, Kurenai Tanji, George Hadjigeorgiou et al. · Neurology · 1999 · 162 citations

Life Sciences, Genetics, Molecular Genetics +17

A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV

Claudio Bruno, Andrea Martinuzzi, Yingying Tang et al. · The American Journal of Human Genetics · 1999 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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