Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Alterations of oxidative phosphorylation complexes in astrocytomas

(2014) René Günther Feichtinger et al.   GLIA

Lipid metabolism in mitochondrial membranes

(2014) Johannes A. Mayr   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial disorders and epilepsy

(2014) I. Desguerre et al.   REVUE NEUROLOGIQUE

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

(2013) Penelope E. Bonnen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

(2013) Xiaowu Gai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

New Reference Curves for Head Circumference at Birth, by Gestational Age

(2013) A. Barbier et al.   PEDIATRICS

Heterogeneity of Coenzyme Q10Deficiency

(2012) Valentina Emmanuele et al.   ARCHIVES OF NEUROLOGY

The SKP1-Cul1-F-box and Leucine-rich Repeat Protein 4 (SCF-FbxL4) Ubiquitin Ligase Regulates Lysine Demethylase 4A (KDM4A)/Jumonji Domain-containing 2A (JMJD2A) Protein

(2011) Capucine Van Rechem et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

(2010) Rene' G Feichtinger et al.   BMC CANCER

Defining neurogenetic phenotypes (or how to compare needles in haystacks)

(2010) P. F. Chinnery   BRAIN

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

(2009) Birgit Acham-Roschitz et al.   MOLECULAR GENETICS AND METABOLISM

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS