Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger
motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial …

The neuromuscular junction (NMJ) is a synapse between motoneurons and skeletal
muscles to control motor behavior. Acetylcholine receptors (AChRs) are restricted at the …

Rare mutations in the mitochondrial protein coiled-coil-helix-coiled-coil-helix domain
containing 2 (CHCHD2) are associated with Parkinson's disease (PD) and other Lewy body …

Mutations in paralogous mitochondrial proteins CHCHD2 and CHCHD10 cause autosomal
dominant Parkinson Disease (PD) and Amyotrophic Lateral Sclerosis/Frontotemporal …

Mitochondrial myopathies belong to a larger group of systemic diseases caused by
morphological or biochemical abnormalities of mitochondria. Mitochondrial disorders can be …

Sir, Recently, Bannwarth et al.(2014) reported a family with a mitochondrial DNA instability
disorder that variably presented with cerebellar ataxia and myopathy but also with an ALS …

Sir, In 2014, we provided a genetic basis to support the conclusion that mitochondrial
dysfunction can have a causative effect in motor neuron degeneration. We reported a large …

The coiled-coil-helix-coiled-coil-helix domain (CHCHD)-containing proteins are
evolutionarily conserved nucleus-encoded small mitochondrial proteins with important …

Mutations in the mitochondrially located protein CHCHD10 cause motoneuron disease by
an unknown mechanism. In this study, we investigate the mutations p. R15L and p. G66V in …

Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral
Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p. Gly66Val) in the same gene …