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Items: 1 to 50 of 157

1.

PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.

Kawarai T, Yamazaki H, Miyamoto R, Takamatsu N, Mori A, Osaki Y, Orlacchio A, Nodera H, Hashiguchi A, Higuchi Y, Yoshimura A, Takashima H, Kaji R.

Neuromuscul Disord. 2019 Jun;29(6):422-426. doi: 10.1016/j.nmd.2019.03.010. Epub 2019 Mar 28.

PMID:
31122831
2.

MiR-33a is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons.

Nakazeki F, Tsuge I, Horie T, Imamura K, Tsukita K, Hotta A, Baba O, Kuwabara Y, Nishino T, Nakao T, Nishiga M, Nishi H, Nakashima Y, Ide Y, Koyama S, Kimura M, Tsuji S, Naitoh M, Suzuki S, Izumi Y, Kawarai T, Kaji R, Kimura T, Inoue H, Ono K.

Clin Sci (Lond). 2019 Feb 22;133(4):583-595. doi: 10.1042/CS20180980. Print 2019 Feb 28.

PMID:
30777884
3.

Complete Genome Sequence of Lactobacillus curvatus NFH-Km12, Isolated from the Japanese Traditional Fish Fermented Food Kabura-zushi.

Kyoui D, Mikami N, Yamamoto H, Kawarai T, Ogihara H.

Microbiol Resour Announc. 2018 Jul 12;7(1). pii: e00823-18. doi: 10.1128/MRA.00823-18. eCollection 2018 Jul.

4.

Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Kawarai T, Miyamoto R, Nakagawa E, Koichihara R, Sakamoto T, Mure H, Morigaki R, Koizumi H, Oki R, Montecchiani C, Caltagirone C, Orlacchio A, Hattori A, Mashimo H, Izumi Y, Mezaki T, Kumada S, Taniguchi M, Yokochi F, Saitoh S, Goto S, Kaji R.

Parkinsonism Relat Disord. 2018 Jul;52:55-61. doi: 10.1016/j.parkreldis.2018.03.022. Epub 2018 Apr 5.

PMID:
29653907
5.

A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course.

Kuwabara K, Kawarai T, Ishida Y, Miyamoto R, Oki R, Orlacchio A, Nomura Y, Fukuda M, Ishii E, Shintaku H, Kaji R.

Parkinsonism Relat Disord. 2018 Jan;46:87-89. doi: 10.1016/j.parkreldis.2017.10.019. Epub 2017 Oct 26. No abstract available.

PMID:
29126763
6.

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability.

Kamada M, Kawarai T, Miyamoto R, Kawakita R, Tojima Y, Montecchiani C, D'Onofrio L, Caltagirone C, Orlacchio A, Kaji R.

Parkinsonism Relat Disord. 2018 Jan;46:79-83. doi: 10.1016/j.parkreldis.2017.10.012. Epub 2017 Oct 21.

PMID:
29107646
7.

Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.

Konno T, Yoshida K, Mizuta I, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Onodera O, Wszolek ZK, Ikeuchi T.

Eur J Neurol. 2018 Jan;25(1):142-147. doi: 10.1111/ene.13464. Epub 2017 Oct 19.

8.

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.

Kawarai T, Montecchiani C, Miyamoto R, Gaudiello F, Caltagirone C, Izumi Y, Kaji R, Orlacchio A.

J Neurol Sci. 2017 Sep 15;380:92-97. doi: 10.1016/j.jns.2017.07.011. Epub 2017 Jul 9.

PMID:
28870597
9.

Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag).

Kawarai T, Morigaki R, Kaji R, Goto S.

Brain Sci. 2017 Jun 26;7(7). pii: E72. doi: 10.3390/brainsci7070072. Review.

10.

Proteasome impairment in neural cells derived from HMSN-P patient iPSCs.

Murakami N, Imamura K, Izumi Y, Egawa N, Tsukita K, Enami T, Yamamoto T, Kawarai T, Kaji R, Inoue H.

Mol Brain. 2017 Feb 15;10(1):7. doi: 10.1186/s13041-017-0286-y.

11.

Enzymatic kinetics of the quinol peroxidase of an aggressive periodontopathic bacterium.

Abe T, Kawarai T, Takahashi Y, Konishi K.

J Biochem. 2017 Jun 1;161(6):513-520. doi: 10.1093/jb/mvw099.

PMID:
28082720
12.

MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.

Abe T, Kawarai T, Fujita K, Sako W, Terasawa Y, Matsuda T, Sakai W, Tsukamoto-Miyashiro A, Matsui N, Izumi Y, Kaji R, Harada M.

Magn Reson Med Sci. 2017 Oct 10;16(4):297-303. doi: 10.2463/mrms.mp.2016-0016. Epub 2016 Dec 26.

13.

Contribution of Streptococcus gordonii Hsa Adhesin to Biofilm Formation.

Oguchi R, Takahashi Y, Shimazu K, Urano-Tashiro Y, Kawarai T, Konishi K, Karibe H.

Jpn J Infect Dis. 2017 Jul 24;70(4):399-404. doi: 10.7883/yoken.JJID.2016.492. Epub 2016 Dec 22.

14.

Trans-crocetin improves amyloid-β degradation in monocytes from Alzheimer's Disease patients.

Tiribuzi R, Crispoltoni L, Chiurchiù V, Casella A, Montecchiani C, Del Pino AM, Maccarrone M, Palmerini CA, Caltagirone C, Kawarai T, Orlacchio A, Orlacchio A.

J Neurol Sci. 2017 Jan 15;372:408-412. doi: 10.1016/j.jns.2016.11.004. Epub 2016 Nov 6.

PMID:
27865556
15.

Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.

Konno T, Yoshida K, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T.

Eur J Neurol. 2017 Jan;24(1):37-45. doi: 10.1111/ene.13125. Epub 2016 Sep 29.

16.

Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16.

Kawarai T, Miyamoto R, Shimatani Y, Orlacchio A, Kaji R.

JAMA Neurol. 2016 Jul 1;73(7):888-90. doi: 10.1001/jamaneurol.2016.0647. No abstract available.

PMID:
27182963
17.

MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.

Kawarai T, Yamasaki K, Mori A, Takamatsu N, Osaki Y, Banzrai C, Miyamoto R, Oki R, Pedace L, Orlacchio A, Nodera H, Hashiguchi A, Higuchi Y, Takashima H, Nishida Y, Izumi Y, Kaji R.

J Neurol Neurosurg Psychiatry. 2016 Nov;87(11):1263-1265. doi: 10.1136/jnnp-2015-312646. Epub 2016 May 6. No abstract available.

PMID:
27154191
18.

Inhibition of Streptococcus mutans biofilm formation using extracts from Assam tea compared to green tea.

Kawarai T, Narisawa N, Yoneda S, Tsutsumi Y, Ishikawa J, Hoshino Y, Senpuku H.

Arch Oral Biol. 2016 Aug;68:73-82. doi: 10.1016/j.archoralbio.2016.04.002. Epub 2016 Apr 12.

PMID:
27107380
19.

Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.

Kaji S, Kawarai T, Miyamoto R, Nodera H, Pedace L, Orlacchio A, Izumi Y, Takahashi R, Kaji R.

J Neurol Sci. 2016 May 15;364:45-9. doi: 10.1016/j.jns.2016.03.001. Epub 2016 Mar 2.

PMID:
27084214
20.

CD56(dim)CD16(high) and CD56(bright)CD16(-) cell percentages associated with maximum knee extensor strength and incidence of death in elderly.

Senpuku H, Miyazaki H, Yoshihara A, Yoneda S, Narisawa N, Kawarai T, Nakagawa N, Miyachi M, Tada A, Yoshida G, Shimada M, Ohashi M, Nishimuta M, Kimura Y, Yoshitake Y.

Springerplus. 2016 Mar 1;5:244. doi: 10.1186/s40064-016-1884-3. eCollection 2016.

21.

Impaired Axonal Na(+) Current by Hindlimb Unloading: Implication for Disuse Neuromuscular Atrophy.

Banzrai C, Nodera H, Kawarai T, Higashi S, Okada R, Mori A, Shimatani Y, Osaki Y, Kaji R.

Front Physiol. 2016 Feb 16;7:36. doi: 10.3389/fphys.2016.00036. eCollection 2016.

22.

Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion.

Shimatani Y, Nakano Y, Tsuyama N, Murayama S, Oki R, Miyamoto R, Murakami N, Fujita K, Watanabe S, Uehara H, Abe T, Nodera H, Kawarai T, Izumi Y, Kaji R.

Neuropathology. 2016 Oct;36(5):456-463. doi: 10.1111/neup.12285. Epub 2016 Jan 15.

PMID:
26773724
23.

Treatment of Isolated Dystonia with Zolpidem.

Miyazaki Y, Koizumi H, Miyamoto R, Kawarai T, Kaji R.

Mov Disord Clin Pract. 2015 Dec 18;3(3):309-311. doi: 10.1002/mdc3.12280. eCollection 2016 May-Jun. No abstract available.

24.

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation.

Kawarai T, Miyamoto R, Mori A, Oki R, Tsukamoto-Miyashiro A, Matsui N, Miyazaki Y, Orlacchio A, Izumi Y, Nishida Y, Kaji R.

J Neurol Sci. 2015 Dec 15;359(1-2):250-5. doi: 10.1016/j.jns.2015.10.045. Epub 2015 Oct 30.

PMID:
26671123
25.

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A.

Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.

26.

Autopsy case of severe generalized dystonia and static ataxia with marked cerebellar atrophy.

Miyamoto R, Sumikura H, Takeuchi T, Sanada M, Fujita K, Kawarai T, Mure H, Morigaki R, Goto S, Murayama S, Izumi Y, Kaji R.

Neurology. 2015 Oct 27;85(17):1522-4. doi: 10.1212/WNL.0000000000002061. Epub 2015 Sep 25. No abstract available.

PMID:
26408497
27.

Lack of C9orf72 expansion in 406 sporadic and familial cases of idiopathic dystonia in Japan.

Miyamoto R, Kawarai T, Oki R, Matsumoto S, Izumi Y, Kaji R.

Mov Disord. 2015 Sep;30(10):1430-1. doi: 10.1002/mds.26310. Epub 2015 Jul 14. No abstract available.

PMID:
26173439
28.

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability.

Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, Imoto I, Kaji R.

J Neurol Neurosurg Psychiatry. 2016 Jun;87(6):656-62. doi: 10.1136/jnnp-2014-309828. Epub 2015 Jul 8.

PMID:
26157035
29.

Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations.

Saji N, Kawarai T, Miyamoto R, Sato T, Morino H, Orlacchio A, Oki R, Kimura K, Kaji R.

J Neurol Sci. 2015 May 15;352(1-2):29-33. doi: 10.1016/j.jns.2015.02.007. Epub 2015 Apr 2.

PMID:
25868896
30.

Comparison of arteriosclerotic indicators in patients with ischemic stroke: ankle-brachial index, brachial-ankle pulse wave velocity and cardio-ankle vascular index.

Saji N, Kimura K, Yagita Y, Kawarai T, Shimizu H, Kita Y.

Hypertens Res. 2015 May;38(5):323-8. doi: 10.1038/hr.2015.8. Epub 2015 Feb 26.

PMID:
25716647
31.

Deep brain stimulation of the thalamic ventral lateral anterior nucleus for DYT6 dystonia.

Mure H, Morigaki R, Koizumi H, Okita S, Kawarai T, Miyamoto R, Kaji R, Nagahiro S, Goto S.

Stereotact Funct Neurosurg. 2014;92(6):393-6. doi: 10.1159/000365577. Epub 2014 Oct 28.

PMID:
25359437
32.

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.

Carosi L, Lo Giudice T, Di Lullo M, Lombardi F, Babalini C, Gaudiello F, Marfia GA, Massa R, Kawarai T, Orlacchio A.

J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):702-4. doi: 10.1136/jnnp-2014-308625. Epub 2014 Oct 28. No abstract available.

33.

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms.

Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A.

Exp Neurol. 2014 Nov;261:518-39. doi: 10.1016/j.expneurol.2014.06.011. Epub 2014 Jun 20. Review.

34.

Mutations in GNAL: a novel cause of craniocervical dystonia.

Kumar KR, Lohmann K, Masuho I, Miyamoto R, Ferbert A, Lohnau T, Kasten M, Hagenah J, Brüggemann N, Graf J, Münchau A, Kostic VS, Sue CM, Domingo AR, Rosales RL, Lee LV, Freimann K, Westenberger A, Mukai Y, Kawarai T, Kaji R, Klein C, Martemyanov KA, Schmidt A.

JAMA Neurol. 2014 Apr;71(4):490-4. doi: 10.1001/jamaneurol.2013.4677.

35.

[Pathomechanisms of motor neuron death by mutant TFG].

Kawarai T, Morita M, Morigaki R, Fujita K, Nodera H, Izumi Y, Goto S, Nakano I, Kaji R.

Rinsho Shinkeigaku. 2013;23(11):1199. Japanese.

PMID:
24291928
36.

DYT6 in Japan-genetic screening and clinical characteristics of the patients.

Miyamoto R, Koizumi H, Morino H, Kawarai T, Maruyama H, Mukai Y, Miyashiro A, Sako W, Izumi Y, Kawakami H, Kaji R.

Mov Disord. 2014 Feb;29(2):278-80. doi: 10.1002/mds.25745. Epub 2013 Nov 13. No abstract available.

PMID:
24227593
37.

Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids.

Terasawa Y, Osaki Y, Kawarai T, Sugimoto T, Orlacchio A, Abe T, Izumi Y, Kaji R.

J Neurol Sci. 2013 Dec 15;335(1-2):213-5. doi: 10.1016/j.jns.2013.08.027. Epub 2013 Aug 30.

PMID:
24094860
38.

miR128 up-regulation correlates with impaired amyloid β(1-42) degradation in monocytes from patients with sporadic Alzheimer's disease.

Tiribuzi R, Crispoltoni L, Porcellati S, Di Lullo M, Florenzano F, Pirro M, Bagaglia F, Kawarai T, Zampolini M, Orlacchio A, Orlacchio A.

Neurobiol Aging. 2014 Feb;35(2):345-56. doi: 10.1016/j.neurobiolaging.2013.08.003. Epub 2013 Sep 21.

PMID:
24064186
39.

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis.

Inui T, Kawarai T, Fujita K, Kawamura K, Mitsui T, Orlacchio A, Kamada M, Abe T, Izumi Y, Kaji R.

J Neurol Sci. 2013 Nov 15;334(1-2):192-5. doi: 10.1016/j.jns.2013.08.020. Epub 2013 Aug 29.

PMID:
24034409
40.

[Dystonia genes and elucidation of their roles in dystonia pathogenesis].

Kawarai T, Miyamoto R, Murakami N, Miyazaki Y, Koizumi H, Sako W, Mukai Y, Sato K, Matsumoto S, Sakamoto T, Izumi Y, Kaji R.

Rinsho Shinkeigaku. 2013;53(6):419-29. Review. Japanese.

PMID:
23782819
41.

Effects of short-chain fatty acids on Actinomyces naeslundii biofilm formation.

Yoneda S, Kawarai T, Narisawa N, Tuna EB, Sato N, Tsugane T, Saeki Y, Ochiai K, Senpuku H.

Mol Oral Microbiol. 2013 Oct;28(5):354-65. doi: 10.1111/omi.12029. Epub 2013 Jun 3.

PMID:
23731652
42.

Depression in X-linked dystonia-parkinsonism: a case-control study.

Morigaki R, Nakataki M, Kawarai T, Lee LV, Teleg RA, Tabuena MD, Mure H, Sako W, Pasco PM, Nagahiro S, Iga J, Ohmori T, Goto S, Kaji R.

Parkinsonism Relat Disord. 2013 Sep;19(9):844-6. doi: 10.1016/j.parkreldis.2013.04.027. Epub 2013 May 23. No abstract available.

PMID:
23706616
43.

Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism.

Goto S, Kawarai T, Morigaki R, Okita S, Koizumi H, Nagahiro S, Munoz EL, Lee LV, Kaji R.

Brain. 2013 May;136(Pt 5):1555-67. doi: 10.1093/brain/awt084. Epub 2013 Apr 18.

PMID:
23599389
44.

Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism.

Kawarai T, Pasco PM, Teleg RA, Kamada M, Sakai W, Shimozono K, Mizuguchi M, Tabuena D, Orlacchio A, Izumi Y, Goto S, Lee LV, Kaji R.

Neurogenetics. 2013 May;14(2):167-9. doi: 10.1007/s10048-013-0357-x. Epub 2013 Feb 23. No abstract available.

PMID:
23435702
45.

Oromandibular dystonia associated with SCA36.

Miyashiro A, Sugihara K, Kawarai T, Miyamoto R, Izumi Y, Morino H, Maruyama H, Orlacchio A, Kawakami H, Kaji R.

Mov Disord. 2013 Apr;28(4):558-9. doi: 10.1002/mds.25304. Epub 2013 Feb 6. No abstract available.

PMID:
23390045
46.

Arterial stiffness and progressive neurological deficit in patients with acute deep subcortical infarction.

Saji N, Kimura K, Kawarai T, Shimizu H, Kita Y.

Stroke. 2012 Nov;43(11):3088-90. doi: 10.1161/STROKEAHA.112.670737. Epub 2012 Sep 4.

PMID:
22949476
47.

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, Ichikawa Y, Iwata A, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S.

Am J Hum Genet. 2012 Aug 10;91(2):320-9. doi: 10.1016/j.ajhg.2012.07.014.

48.

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. 2012 Sep 1;27(10):1324-5. doi: 10.1002/mds.25106. Epub 2012 Jul 20. No abstract available.

PMID:
22821615
49.

Competence-dependent endogenous DNA rearrangement and uptake of extracellular DNA give a natural variant of Streptococcus mutans without biofilm formation.

Narisawa N, Kawarai T, Suzuki N, Sato Y, Ochiai K, Ohnishi M, Watanabe H, Senpuku H.

J Bacteriol. 2011 Oct;193(19):5147-54. doi: 10.1128/JB.05240-11. Epub 2011 Jul 29.

50.

Increased brachial-ankle pulse wave velocity is independently associated with white matter hyperintensities.

Saji N, Shimizu H, Kawarai T, Tadano M, Kita Y, Yokono K.

Neuroepidemiology. 2011;36(4):252-7. doi: 10.1159/000328260. Epub 2011 Jun 16.

PMID:
21677450

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