Background Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis
that is poorly understood. We identified six families with multiple cases of systemic and …

Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for
comprehensive genomic interpretation remain immature. Diagnoses are based on known or …

… Dina Marek-Yagel … Presented by Ms Marek-Yagel in partial fulfillment of the requirements
for a PhD degree, Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel. …

… C), and DV-1 (family D) and the parents from families A and D, as described previously.For …
968_5032603del) (Figures 1A and 1B) in affected individuals of families A and D, while we …

Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential
for the function of the respiratory chain and several mitochondrial enzyme complexes. We …

… D: This chart compares age with heart rate of carrier and noncarrier family members. It
demonstrates clear separation of 2 groups: affected and nonaffected family members, regarding …

Two unrelated patients, presenting with significant global developmental delay, severe
progressive microcephaly, seizures, spasticity and thin corpus callosum (CC) underwent trio …

… Dina Marek-Yagel … Dina Marek-Yagel … The dosage used was 15 mg/kg/d divided into
three doses. Even though our patients’ ataxia severity is currently mild to moderate with baseline …

Background AIFM1 encodes a mitochondrial flavoprotein with a dual role (NADH oxidoreductase
and regulator of apoptosis), which uses riboflavin as a cofactor. Mutations in the X-…

Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular
enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can …