… OPA1 mutations may lead to complex and severe multi-system recessive mitochondrial
disorders, … One year later, the neurological conditions worsened with increased spasticity in her …

… in OPA1 patients. This variety of phenotypes is attributed to differences in the effects of OPA1
mutations, to … This concerns a severe neurological syndrome associating early-onset optic …

… related clinical phenotypes, focusing on the current therapeutic options and future perspectives
to treat DOA and the other associated neurological disorders due to OPA1 mutations. …

… OPA1 mutations, giving clinical and molecular descriptions together with detailed
ophthalmological and neurological … in some patients with a severe neurological syndrome …

… human models of neurological disorders. The iPSCs are stem cells-like reprogrammed in
vitro from … in the two patients, presenting the same OPA1 mutation, were not identified (106). …

… phenotype not so common in patients with OPA1 mutation. The neuroimaging findings found
in … Multi-system neurological disease is common in patients with OPA1 mutations. Brain : a …

… novel pathogenic biallelic OPA1 mutations. This report … OPA1 mutations, and corroborates
the notion that recessive pathogenic mutations may cause severe, early-onset disorders…

… The pathophysiological links connecting OPA1 mutations with the peculiar selective … for
this disorder. Although the underlying pathogenesis has an heterogenous and often complex …

… Some of the patients reported as biallelic inheritance carry one known OPA1 mutation and
a … The prognosis for vision and neurologic impairment is guarded and should be included in …

… nerve disorders, and even before the major genetic cause of DOA was determined to be the
OPA1 gene [1,2], a subset of patients … The OPA1 gene was first considered to be causative of …