Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial
appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual …

Purpose: De novo STXBP1 mutations have been found in individuals with early infantile
epileptic encephalopathy with suppression‐burst pattern (EIEE). Our aim was to delineate the …

High‐pressure phase relations have been examined for phlogopite + diopside with and
without enstatite under vapor absent conditions in the pressure range of 5 to 13 GPa and in the …

Here, we report on validating a mitochondrial gene therapy by delivering nucleic acids to
mitochondria of diseased cells by a MITO-Porter, a liposome-based carrier for mitochondrial …

Whole-exome sequencing of two affected sibs and their mother who showed a unique
quadriceps-dominant form of neurogenic muscular atrophy disclosed a heterozygous DYNC1H1 …

Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases
of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 …

Purpose: The occurrence of acute encephalopathy in children with Dravet syndrome has
been reported sporadically. This study clarified the features of acute encephalopathy in …

The mitochondrial DNA (mtDNA) G13513A mutation in the ND5 subunit gene has been recently
reported as a common cause of some phenotypes of mitochondrial myopathy. Until now, …

Background Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial
encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of …

The shape and the surface morphology of the trench structure was successfully transformed
by the annealing in hydrogen ambient. The corner was rounded and the surface …