Danon disease, an X-linked dominant cardioskeletal myopathy, is caused by primary deficiency
of lysosome-associated membrane protein-2 (LAMP-2). To clarify the clinicopathological …

The brainstem is a posterior region of the brain, composed of three parts, midbrain, pons, and
medulla oblongata. It is critical in controlling heartbeat, blood pressure, and respiration, all …

Importance Repeat expansion of CGG inLRP12has been identified as the causative
variation of oculopharyngodistal myopathy (OPDM). However, to our knowledge, the …

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the
degeneration of motor neurons. Although repeat expansion in C9orf72 is its most common …

Aims Oculopharyngodistal myopathy (OPDM) is caused by the expansion of CGG repeats in
NOTCH2NLC (OPDM_NOTCH2NLC) GIPC1 (OPDM_GIPC1), or LRP12 (OPDM_LRP12). …

Ischemic stroke is one of the most common neurological diseases. However, the impact of
ischemic stroke on human cerebral tissue remains largely unknown due to a lack of ischemic …

Danon disease, primary lysosome‐associated membrane protein‐2 (LAMP‐2) deficiency, is
characterized clinically by cardiomyopathy, myopathy and intellectual disability in boys. …

This study aimed to evaluate genotype-phenotype correlations of Parkinson’s disease (PD)
patients with phospholipase A2 group V (PLA2G6) variants. We analyzed the DNA of 798 …

Background: It is difficult to predict the risk of falling, especially in patients with good motor
ability, and the mechanisms underlying the relation between gait patterns and falling in …

Dear Editor, p. P525L mutation in the fused in sarcoma (FUS) gene has been detected in
patients with amyotrophic lateral sclerosis (ALS), characterized by early onset and a severely …