Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

(2019) Silvia Radenkovic et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment

(2019) Jerry Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Gas Partial Pressure in Cultured Cells: Patho-Physiological Importance and Methodological Approaches

(2018) Ramon Farré et al.   Frontiers in Physiology

Revisiting mitochondrial diagnostic criteria in the new era of genomics

(2017) Peter Witters et al.   GENETICS IN MEDICINE

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

(2016) Andrea Legati et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The genetics and pathology of mitochondrial disease

(2016) Charlotte L Alston et al.   JOURNAL OF PATHOLOGY

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

ClustVis: a web tool for visualizing clustering of multivariate data using Principal Component Analysis and heatmap

(2015) Tauno Metsalu et al.   NUCLEIC ACIDS RESEARCH

Measuring oxidative phosphorylation in human skin fibroblasts

(2013) Fang Ye et al.   ANALYTICAL BIOCHEMISTRY

Mitochondrial genetics

(2013) P. F. Chinnery et al.   BRITISH MEDICAL BULLETIN

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders

(2012) R.J.T. Rodenburg et al.   MITOCHONDRION

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

(2012) Marco Spinazzi et al.   Nature Protocols

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Nuclear-encoded mitochondrial proteins and their role in cardioprotection

(2011) Kerstin Boengler et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

Biochemical diagnosis of mitochondrial disorders

(2010) Richard J. T. Rodenburg   JOURNAL OF INHERITED METABOLIC DISEASE