1 - 25 of 40 results for author:"Kawarai T." in Literature citations
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| The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. Ishiura H., Sako W., Yoshida M., Kawarai T., Tanabe O., Goto J., Takahashi Y., Date H., Mitsui J., Ahsan B. et al. Am. J. Hum. Genet. 91:320-329(2012) · UniProtKB (3) · Mapped (4) |
| Broad spectrum of dystonia associated with a novel thanatosis-associated protein domain-containing apoptosis-associated protein 1 mutation in a Japanese family with dystonia 6, torsion. Miyamoto R., Ohta E., Kawarai T., Koizumi H., Sako W., Izumi Y., Obata F., Kaji R. Mov. Disord. 27:1324-1325(2012) · Mapped (1) |
| SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Orlacchio A., Babalini C., Borreca A., Patrono C., Massa R., Basaran S., Munhoz R.P., Rogaeva E.A., St George-Hyslop P.H., Bernardi G. et al. Brain 133:591-598(2010) · Mapped (5) |
| Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. Pippucci T., Panza E., Pompilii E., Donadio V., Borreca A., Babalini C., Patrono C., Zuntini R., Kawarai T., Bernardi G. et al. Eur. J. Neurol. 16:121-126(2009) · Mapped (5) |
| The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus. Orlacchio A., Bruce I.N., Rahman P., Kawarai T., Bernardi G., St George-Hyslop P.H., Gladman D.D., Urowitz M.B. Med. Sci. Monit. 14:CR233-237(2008) · Mapped (5) |
| Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. Orlacchio A., Patrono C., Gaudiello F., Rocchi C., Moschella V., Floris R., Bernardi G., Kawarai T. Neurology 70:1959-1966(2008) · Mapped (4) |
| Spastic paraplegia in Romania: high prevalence of SPG4 mutations. Orlacchio A., Patrono C., Borreca A., Babalini C., Bernardi G., Kawarai T. J. Neurol. Neurosurg. Psychiatr. 79:606-607(2008) · Mapped (4) |
| Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis. Xiao S., Sato C., Kawarai T., Goodall E.F., Pall H.S., Zinman L.H., Robertson J., Morrison K., Rogaeva E. Neurobiol. Aging 29:1279-1282(2008) · Mapped (3) |
| A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia. Matsui M., Kawarai T., Hase Y., Tomimoto H., Iseki K., Rogaeva E., Orlacchio A., Bernardi G., St George-Hyslop P., Takahashi R. et al. J. Neurol. 254:972-974(2007) · Mapped (3) |
| Neuroacanthocytosis associated with a defect of the 4.1R membrane protein. Orlacchio A., Calabresi P., Rum A., Tarzia A., Salvati A.M., Kawarai T., Stefani A., Pisani A., Bernardi G., Cianciulli P. et al. BMC Neurol 7:4-4(2007) · Mapped (8) |
| The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Rogaeva E., Meng Y., Lee J.H., Gu Y., Kawarai T., Zou F., Katayama T., Baldwin C.T., Cheng R., Hasegawa H. et al. Nat. Genet. 39:168-177(2007) · Mapped (5) |
| High-hydrostatic-pressure treatment impairs actin cables and budding in Saccharomyces cerevisiae. Kawarai T., Arai S., Furukawa S., Ogihara H., Yamasaki M. J. Biosci. Bioeng. 101:515-518(2006) · Mapped (1) |
| Association studies between the plasmin genes and late-onset Alzheimer's disease. Shibata N., Kawarai T., Meng Y., Lee J.H., Lee H.S., Wakutani Y., Shibata E., Pathan N., Bi A., Sato C. et al. Neurobiol. Aging 28:1041-1043(2007) · Mapped (12) |
| TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity. Chen F., Hasegawa H., Schmitt-Ulms G., Kawarai T., Bohm C., Katayama T., Gu Y., Sanjo N., Glista M., Rogaeva E. et al. |
| LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Paisan-Ruiz C., Lang A.E., Kawarai T., Sato C., Salehi-Rad S., Fisman G.K., Al-Khairallah T., St George-Hyslop P.H., Singleton A., Rogaeva E. |
| Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease. Shibata N., Kawarai T., Lee J.H., Lee H.-S., Shibata E., Sato C., Liang Y., Duara R., Mayeux R.P., St George-Hyslop P.H. et al. Neurosci. Lett. 391:142-146(2006) · UniProtKB (1) · Mapped (17) |
| Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. Petit A., Kawarai T., Paitel E., Sanjo N., Maj M., Scheid M., Chen F., Gu Y., Hasegawa H., Salehi-Rad S. et al. J. Biol. Chem. 280:34025-34032(2005) · Mapped (1) |
| Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP. Pardossi-Piquard R., Petit A., Kawarai T., Sunyach C., Alves da Costa C., Vincent B., Ring S., D'Adamio L., Shen J., Muller U. et al. Neuron 46:541-554(2005) · Mapped (31) |
| The effects of APOE and tau gene variability on risk of frontotemporal dementia. Bernardi L., Maletta R.G., Tomaino C., Smirne N., Di Natale M., Perri M., Longo T., Colao R., Curcio S.A., Puccio G. et al. Neurobiol. Aging 27:702-709(2006) · Mapped (5) |
| Clinical and genetic study of a large SPG4 Italian family. Orlacchio A., Kawarai T., Gaudiello F., Totaro A., Schillaci O., Stefani A., Floris R., St George-Hyslop P.H., Sorbi S., Bernardi G. Mov. Disord. 20:1055-1059(2005) · Mapped (4) |
| Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Rogaeva E., Johnson J., Lang A.E., Gulick C., Gwinn-Hardy K., Kawarai T., Sato C., Morgan A., Werner J., Nussbaum R. et al. Arch. Neurol. 61:1898-1904(2004) · UniProtKB (1) |
| Genetic association study of PINK1 coding polymorphisms in Parkinson's disease. Groen J.L., Kawarai T., Toulina A., Rivoiro C., Salehi-Rad S., Sato C., Morgan A., Liang Y., Postuma R.B., St George-Hyslop P. et al. Neurosci. Lett. 372:226-229(2004) · Mapped (1) |
| Analysis of the glucocerebrosidase gene in Parkinson's disease. Sato C., Morgan A., Lang A.E., Salehi-Rad S., Kawarai T., Meng Y., Ray P.N., Farrer L.A., St George-Hyslop P., Rogaeva E. Mov. Disord. 20:367-370(2005) · Mapped (13) |
| Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes. Hasegawa H., Sanjo N., Chen F., Gu Y.J., Shier C., Petit A., Kawarai T., Katayama T., Schmidt S.D., Mathews P.M. et al. J. Biol. Chem. 279:46455-46463(2004) · Mapped (1) |
| Hereditary spastic paraplegia: clinical genetic study of 15 families. Orlacchio A., Kawarai T., Totaro A., Errico A., St George-Hyslop P.H., Rugarli E.I., Bernardi G. Arch. Neurol. 61:849-855(2004) · UniProtKB (1) |