Ramona Bolognini

TL;DR: The broad phenotypic spectrum and pathobiochemistry of individuals with autosomal‐recessive ECHS1 deficiency is described.

TL;DR: The data demonstrate pathogenic mutations in MRPS14 can manifest as a perinatal-onset mitochondrial hypertrophic cardiomyopathy with a novel molecular pathogenic mechanism that impairs the function of mitochondrial ribosomes during translation elongation or mitochondrial mRNA recruitment rather than assembly.

TL;DR: This study shows the importance of transcript analysis to determine the consequences of unclear intronic mutations in OPA1 in proximity to the intron-exon boundaries.

TL;DR: Hereditary spastic paraplegia is a heterogeneous group of diseases with varied clinical symptoms, age of onset and progression, and mutations in more than 70 genes are known to causevarious forms of the disorder.

TL;DR: The understanding of NDUFV1 variants with a 14‐fold longer lifetime than so far reported cases is extended, and will foster sensitivity toward respiratory chain disease also in adult patients with sudden deteriorating neurological deficits.