FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

Molecular and clinical spectra of FBXL4 deficiency

(2017) Ayman W. El-Hattab et al.   HUMAN MUTATION

MtDNA-maintenance defects: syndromes and genes

(2017) Carlo Viscomi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of FBXL4 as a Metastasis Associated Gene in Prostate Cancer

(2017) Elzbieta Stankiewicz et al.   Scientific Reports

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

(2016) Ewa Pronicka et al.   Journal of Translational Medicine

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

(2015) Martina Huemer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations

(2010) Hsiuchen Chen et al.   CELL

Consanguinity and reproductive health among Arabs

(2009) Ghazi O Tadmouri et al.   Reproductive Health

Consanguinity and family clustering of male factor infertility in Lebanon

(2008) Marcia C. Inhorn et al.   FERTILITY AND STERILITY