Search Results - "Kawarai, T."

Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation by Konno, T., Yoshida, K., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., Ikeda, S.‐I., Nishizawa, M., Onodera, O., Wszolek, Z. K., Ikeuchi, T.

“…Background and purpose The clinical characteristics of colony stimulating factor 1 receptor (CSF1R) related adult‐onset leukoencephalopathy with axonal…”
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Diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation by Konno, T., Yoshida, K., Mizuta, I., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., Ikeda, S.‐I., Onodera, O., Wszolek, Z. K., Ikeuchi, T.

“…Background and purpose To establish and validate diagnostic criteria for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to…”
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Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease by Alves da Costa, Cristine, Sunyach, Claire, Pardossi-Piquard, Raphaelle, Sévalle, Jean, Vincent, Bruno, Boyer, Nicole, Kawarai, Toshitaka, Girardot, Nadège, St George-Hyslop, Peter, Checler, Frédéric

“…Presenilins (PSs) are part of the gamma-secretase complex that produces the amyloid beta-peptide (Abeta) from its precursor [beta-amyloid precursor protein…”
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LRRK2 gene in parkinson disease : Mutation analysis and case control association study by PAISAN-RUIZ, C, LANG, A. E, KAWARAI, T, SATO, C, SALEHI-RAD, S, FISMAN, G. K, AL-KHAIRALLAH, T, ST GEORGE-HYSLOP, P, SINGLETON, A, ROGAEVA, E

“…In addition to the four well-confirmed genes linked to early-onset Parkinson disease (PD) (SNCA, PARKIN, DJ-1, and PINK1), mutations in the leucine-rich repeat…”
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Effects of short-chain fatty acids on Actinomyces naeslundii biofilm formation by Yoneda, S., Kawarai, T., Narisawa, N., Tuna, E.B., Sato, N., Tsugane, T., Saeki, Y., Ochiai, K., Senpuku, H.

“…Summary Actinomyces naeslundii is an early colonizer and has important roles in the development of the oral biofilm. Short‐chain fatty acids (SCFA) are…”
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Autopsy-proven coexistence of amyotrophic lateral sclerosis with parkinson’s disease by Izumi, Y, Sumikura, H, Fujita, K, Shimatani, Y, Miyamoto, R, Nodera, H, Kawarai, T, Nishida, Y, Murayama, S, Kaji, R

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Silver syndrome variant of hereditary spastic paraplegia : A locus to 4p and allelism with SPG4 by ORLACCHIO, A, PATRONO, C, GAUDIELLO, F, ROCCHI, C, MOSCHELLA, V, FLORIS, R, BERNARDI, G, KAWARAI, T

“…To perform a clinical and genetic study of two large Italian families (RM-36 and RM-51) showing the cardinal clinical features of Silver syndrome (SS), a rare…”
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Familial Alzheimer disease : Decreases in CSF Aβ42 levels precede cognitive decline by MOONIS, M, SWEARER, J. M, DAYAW, M. P. E, GEORGE-HYSLOP, P. St, ROGAEVA, E, KAWARAI, T, POLLEN, D. A

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The effects of APOE and tau gene variability on risk of frontotemporal dementia by Bernardi, L., Maletta, R.G., Tomaino, C., Smirne, N., Di Natale, M., Perri, M., Longo, T., Colao, R., Curcio, S.A.M., Puccio, G., Mirabelli, M., Kawarai, T., Rogaeva, E., St. George Hyslop, P.H., Passarino, G., De Benedictis, G., Bruni, A.C.

“…Frontotemporal dementia (FTD) is a complex dementing syndrome whose genetic/non genetic risk factors are mostly unknown. Aim of the present work was to…”
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Heterogeneity within a large kindred with frontotemporal dementia : A novel progranulin mutation by BRUNI, A. C, MOMENI, P, ANFOSSI, M, GALLO, M, GERACITANO, S, COSTANZO, A, SMIRNE, N, CURCIO, S. A. M, MIRABELLI, M, PUCCIO, G, COLAO, R, MALETTA, R. G, BERNARDI, L, KERTESZ, A, GEORGE-HYSLOP, P. St, HARDY, J, ROGAEVA, E, TOMAINO, C, FRANGIPANE, F, ELDER, J, KAWARAI, T, SATO, C, PRADELLA, S, WAKUTANI, Y

“…Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN). To determine the…”
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Spastic paraplegia in Romania: high prevalence of SPG4 mutations by Orlacchio, A, Patrono, C, Borreca, A, Babalini, C, Bernardi, G, Kawarai, T

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SulA-independent filamentation of Escherichia coli during growth after release from high hydrostatic pressure treatment by Kawarai, T, Wachi, M, Ogino, H, Furukawa, S, Suzuki, K, Ogihara, H, Yamasaki, M

“…To improve the efficiency of sterilization by high hydrostatic pressure treatment (HPT), it is desirable to know the biochemical process of bacteria most…”
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Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions by KERTESZ, A, KAWARAI, T, ROGAEVA, E, GEORGE-HYSLOP, P. S, POORKAJ, P, BIRD, T. D, MUNOZ, D. G

“…To describe the clinical features, neuropathology, and genetic studies in a family with autosomal dominant frontotemporal dementia (FTD). Clinical Pick's…”
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Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of β-catenin ,a component of the presenilin protein complex by St George-Hyslop, P, Nishimura, M, Yu, G, Levesque, G, Zhang, D.M, Ruel, L, Chen, F, Milman, P, Holmes, E, Liang, Y, Kawarai, T, Jo, E, Supala, A, Rogaeva, E, Xu, D -M, Janus, C, Levesque, L, Bi, Q, Duthie, M, Rozmahel, R, Mattila, K, Lannfelt, L, Westaway, D, Mount, H.T.J, Woodgett, J, Fraser, P.E

“…The presenilin proteins are components of high-molecular-weight protein complexes in the endoplasmic reticulum and Golgi apparatus that also contain…”
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Effect of high pressure gaseous carbon dioxide on the germination of bacterial spores by Furukawa, S., Watanabe, T., Tai, T., Hirata, J., Narisawa, N., Kawarai, T., Ogihara, H., Yamasaki, M.

“…Effect of high pressure gaseous carbon dioxide treatment (HGCT) at 6.5 MPa, 35 °C on the germination of bacterial spores was investigated. Germination of…”
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Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity by Pippucci, T., Panza, E., Pompilii, E., Donadio, V., Borreca, A., Babalini, C., Patrono, C., Zuntini, R., Kawarai, T., Bernardi, G., Liguori, R., Romeo, G., Montagna, P., Orlacchio, A., Seri, M.

“…Background and purpose:  Autosomal Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum (AR‐HSPTCC) is a clinically and genetically heterogeneous…”
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A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts by ORLACCHIO, A, GAUDIELLO, F, TOTARO, A, FLORIS, R, ST GEORGE-HYSLOP, P. H, BERNARDI, G, KAWARAI, T

“…The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary spastic paraplegia and congenital…”
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Pleasant feeling from watching a comical video enhances free radical-scavenging capacity in human whole saliva by Atsumi, T, Fujisawa, S, Nakabayashi, Y, Kawarai, T, Yasui, T, Tonosaki, K

“…Free radicals have been implicated in aging, mutagenesis, inflammation and other pathological conditions. We conducted a study to clarify the relation between…”
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Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation by Lippa, Carol F., Zhukareva, Victoria, Kawarai, T., Uryu, Kunihiro, Shafiq, M., Nee, L. E., Grafman, J., Liang, Yan, St George-Hyslop, Peter H., Trojanowski, John Q., Lee, Virginia M.-Y.

“…It is unclear how tau gene mutations cause frontotemporal dementia (FTD) with parkinsonism linked to chromosome 17 (FTDP‐17), but those in exon 10 (E10) or the…”
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Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics by LEE, J. H, MAYEUX, R, LANTIGUA, R, KAWARAI, T, TOULINA, A, MEDRANO, M, TORRES, M, STERN, Y, TYCKO, B, ROGAEVA, E, ST. GEORGE-HYSLOP, P, KNOWLES, J. A, MAYO, D, MO, J, SANTANA, V, WILLIAMSON, J, FLAQUER, A, CIAPPA, A, RONDON, H, ESTEVEZ, P

“…Familial Alzheimer's disease (AD [MIM 104300]) has been a focus of intense investigation, primarily in Caucasian families from Europe and North America…”
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