Mitsunobu Shimadzu
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genetic Neurodegenerative Diseases, Ion Transport and Channel Regulation, T-cell and B-cell Immunology, Immune Cell Function and Interaction
Most-Cited Works
- → Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities(1999)294 cited
- → A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR(1999)225 cited
- → Brain α-synuclein accumulation in multiple system atrophy, Parkinson's disease and progressive supranuclear palsy: a comparative investigation(2009)204 cited
- → Dystonia with motor delay in compound heterozygotes for GTP‐cyclohydrolase I gene mutations(1998)151 cited
- → Defective membrane expression of the Na + -HCO 3 − cotransporter NBCe1 is associated with familial migraine(2010)148 cited
- → Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia(1998)125 cited
- → Novel Nonsense Mutation in the Na+/HCO3 - Cotransporter Gene (SLC4A4) in a Patient with Permanent Isolated Proximal Renal Tubular Acidosis and Bilateral Glaucoma(2001)124 cited
- → Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia(1999)117 cited
- → Functional Analysis of NBC1 Mutants Associated with Proximal Renal Tubular Acidosis and Ocular Abnormalities(2005)109 cited
- → Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations(2001)107 cited