Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …

Primary genetic mitochondrial diseases are often difficult to diagnose, and the term
'possible'mitochondrial disease is used frequently by clinicians when such a diagnosis is …

Several initiatives at establishing a classification of inherited metabolic disorders have been
published previously, some focusing on pathomechanisms, others on clinical …

Ferroptosis is an iron-dependent form of regulated cell death, arising from the accumulation
of lipid-based reactive oxygen species when glutathione-dependent repair systems are …

We show that extracellular vesicles (EVs) released by mesenchymal cells (ie, fibro–
adipogenic progenitors—FAPs) mediate microRNA (miR) transfer to muscle stem cells …

NRF2 (Nuclear factor Erythroid 2-related Factor 2) signaling is impaired in Friedreich's
Ataxia (FRDA), an autosomal recessive disease characterized by progressive nervous …

Patients affected by protocadherin 19 (PCDH 19)–female limited epilepsy (PCDH 19‐FE)
present a remarkable reduction in allopregnanolone blood levels. However, no information …

Background Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by
congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability …

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by
the degeneration of the second motor neuron. The phenotype ranges from very severe to …

Friedreich's ataxia (FA) is a trinucleotide repeats expansion neurodegenerative disorder, for
which no cure or approved therapies are present. In most cases, GAA trinucleotide …