Concepedia

Maria M O’Callaghan

MM

Statistics

Publications

6

Citations

93

H-Index

6

Active since

2015

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Universidad de Zaragoza

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Institut de Recerca Sant Joan de Déu

Maria M O’Callaghan is an author at Hospital Sant Joan de Déu Barcelona specializing in genetics, life sciences, and mitochondrial genetics.

Publications per year

2015–2021

6

Publications

6

Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases

Selena Trifunov, Abraham J. Paredes‐Fuentes, Carmen Badosa et al. · Clinical Chemistry · 2021 · 19 citations · Full text

, , +17

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

Claudio Asencio, María Hernández, Paz Briones et al. · European Journal of Human Genetics · 2015 · 17 citations · Full text

, , +12

Mutation loads in different tissues from six pathogenic mtDNA point mutations

Maria M O’Callaghan, Sonia Emperador, Mercè Pineda et al. · Mitochondrion · 2015 · 16 citations · Full text

, , +12

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

Cristina Jou, Juan Darío Ortigoza‐Escobar, Maria M O’Callaghan et al. · Journal of Clinical Medicine · 2019 · 16 citations · Full text

, , +17

A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

Ana Fernández‐Marmiesse, Sofía Sánchez‐Iglesias, Alejandra Darling et al. · Seizure · 2019 · 13 citations · Full text

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