Affiliation: Nagoya University
- Neuropathology and omics in motor neuron diseasesFumiaki Tanaka
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
Neuropathology 32:458-62. 2012..Finally, we emphasize the need for creating novel SALS disease models based on the results of omics analysis, especially based on the observation that dynactin-1 gene expression was downregulated in SALS motor neurons...
- Current status of treatment of spinal and bulbar muscular atrophyFumiaki Tanaka
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya 466 8550, Japan
Neural Plast 2012:369284. 2012..Other treatments targeted for mitochondrial function, ubiquitin-proteasome system (UPS), and autophagy could be applicable for all types of polyglutamine diseases...
- Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion diseaseJ Sone
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Aichi 466 8550, Japan
Neurology 76:1372-6. 2011..Because of the variety of clinical manifestations, antemortem diagnosis of NIID is difficult...
- Detection of triplet repeat expansion in the human genome by use of hybridization signal intensityK Sawada
Taisho Laboratory of Functional Genomics, Nara Institute of Science and Technology, Nagoya, Japan
Anal Biochem 286:59-66. 2000..The technique has advantages over related techniques because it is more sensitive and can be applied to cases where a small repeat expansion is involved...
- Transforming growth factor-β signaling in motor neuron diseasesM Katsuno
Department of Neurology, Nagoya University Graduate School of Medicine, Showa Ku, Nagoya, Japan
Curr Mol Med 11:48-56. 2011....
- Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypesT Kato
Department of Neurology, Kasugai Municipal Hospital, Japan
Clin Genet 58:69-73. 2000..These findings strongly suggest that the gene dosage influences the age of onset, but other unknown factors are also important in the phenotypic expression of homozygous SCA6...
- Cognitive impairment in spinocerebellar ataxia type 6M Suenaga
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai cho Showa ku, Nagoya 466 8550 Japan
J Neurol Neurosurg Psychiatry 79:496-9. 2008..The aim of this study was to evaluate cognitive impairment in patients with spinocerebellar ataxia type 6 (SCA6) and to verify the role of cerebellar involvement in intellectual abilities...
- Prefrontal hypoperfusion and cognitive dysfunction correlates in spinocerebellar ataxia type 6Y Kawai
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
J Neurol Sci 271:68-74. 2008..The aim of this study is to evaluate the correlation between brain perfusion and cognitive dysfunction in spinocerebellar ataxia type 6 (SCA6) patients...
- Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patientsT Sato
Department of Neurology, Brain Research Institute, Niigata University, 1 Asahimachi, Niigata 951 8585, Japan
Hum Mol Genet 8:99-106. 1999....