Diffuse panbronchiolitis (DPB) is a chronic inflammatory disease of the airways with a high
rate of mortality despite treatment with a combination of antibiotics and the use of supportive …

Presented here was an outline of fatal myocardial sarcoidosis in Japan based on 42 autopsy
cases. The incidence, clinical features, pathological findings (particularly the distribution of …

Spinal and bulbar muscular atrophy (SBMA) is an X‐linked motor neuronopathy caused by
the expansion of an unstable CAG repeat in the coding region of the androgen receptor (AR) …

Familial amyotrophic lateral sclerosis (FALS)‐linked mutations in copper–zinc superoxide
dismutase (SOD1) cause motor neuron death through one or more acquired toxic properties. …

The causative pathomechanism of sporadic amyotrophic lateral sclerosis (ALS) is not clearly
understood. Using microarray technology combined with laser‐captured microdissection, …

Background Type I (transthyretin Met30) familial amyloid polyneuropathy (FAP TTR Met30)
occurs in 2 endemic foci in Japan. We have also reported late-onset Japanese cases …

Three genes commonly causing Charcot–Marie–Tooth disease (CMT) encode myelin‐related
proteins: peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin …

An analysis of molecular phylogeny was undertaken to examine whether the evolution of the
hepadnavirus family is host-dependent. Using the nucleotide sequences of 18 strains, we …

Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical
spectrum includes both microform and subepithelial lip defects. We identified missense and …

Objective The objective of this study was to elucidate the natural history of late-onset
transthyretin Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) in non-…