Mitsunobu Shimadzu

TL;DR: Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities and can lead to blindness in women and severe brain damage in men.

TL;DR: Brain membrane-associated, sodium dodecyl sulfate-soluble alpha-synuclein accumulations in Parkinson's disease and multiple system atrophy are regionally specific, suggesting that these sporadic alpha- Synucleinopathies, unlike familial Parkinsonism-dementia, are not associated with a simple global over-expression of the protein.

TL;DR: It is concluded that M-PCR provides an accurate assay for X-inactivation and that it can be performed on various DNA samples unsuitable for restriction digestion.

TL;DR: A new phenotype of GCH deficiency associated with compound heterozygosity for GCH gene mutations is demonstrated and the usefulness of combined BH4 and levodopa therapy for this disorder is suggested.

TL;DR: The immunohistological and functional analyses of mutants demonstrate that the near total loss of NBCe1 activity in astrocytes can cause migraine potentially through dysregulation of synaptic pH.