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Items: 1 to 50 of 95

1.

An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.

Uchino A, Nagai M, Kanazawa N, Ichinoe M, Yanagisawa N, Adachi K, Nanba E, Ishiura H, Mitsui J, Tsuji S, Suzuki K, Murayama S, Nishiyama K.

Neuropathology. 2020 Mar 27. doi: 10.1111/neup.12651. [Epub ahead of print]

PMID:
32219895
2.

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

Ishihara S, Okamoto Y, Tanabe H, Yoshimura A, Higuchi Y, Yuan JH, Hashiguchi A, Ishiura H, Mitsui J, Suwazono S, Oya Y, Sasaki M, Nakagawa M, Tsuji S, Ohya Y, Takashima H.

J Peripher Nerv Syst. 2020 Feb 28. doi: 10.1111/jns.12369. [Epub ahead of print]

PMID:
32108980
3.

A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.

Kurihara M, Ishiura H, Bannai T, Mitsui J, Yoshimura J, Morishita S, Hayashi T, Shimizu J, Toda T, Tsuji S.

Intern Med. 2020 Mar 15;59(6):839-842. doi: 10.2169/internalmedicine.3661-19. Epub 2019 Dec 6.

4.

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes.

Nan H, Ichinose Y, Tanaka M, Koh K, Ishiura H, Mitsui J, Mizukami H, Morimoto M, Hamada S, Ohtsuka T, Tsuji S, Takiyama Y.

J Hum Genet. 2019 Nov;64(11):1055-1065. doi: 10.1038/s10038-019-0670-9. Epub 2019 Sep 12.

PMID:
31515522
5.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S.

Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22.

PMID:
31332380
6.

Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy.

Togawa J, Ohi T, Yuan JH, Takashima H, Furuya H, Takechi S, Fujitake J, Hayashi S, Ishiura H, Naruse H, Mitsui J, Tsuji S.

Intern Med. 2019;58(13):1851-1858. doi: 10.2169/internalmedicine.2222-18. Epub 2019 Jul 1.

7.

Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.

Hashiguchi S, Doi H, Kunii M, Nakamura Y, Shimuta M, Suzuki E, Koyano S, Okubo M, Kishida H, Shiina M, Ogata K, Hirashima F, Inoue Y, Kubota S, Hayashi N, Nakamura H, Takahashi K, Katsumoto A, Tada M, Tanaka K, Sasaoka T, Miyatake S, Miyake N, Saitsu H, Sato N, Ozaki K, Ohta K, Yokota T, Mizusawa H, Mitsui J, Ishiura H, Yoshimura J, Morishita S, Tsuji S, Takeuchi H, Ishikawa K, Matsumoto N, Ishikawa T, Tanaka F.

Neurobiol Dis. 2019 Oct;130:104516. doi: 10.1016/j.nbd.2019.104516. Epub 2019 Jun 20.

PMID:
31229688
8.

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.

Naruse H, Takahashi Y, Ishiura H, Matsukawa T, Mitsui J, Ichikawa Y, Hamada M, Shimizu J, Goto J, Toda T, Tsuji S.

Intern Med. 2019 Oct 1;58(19):2865-2869. doi: 10.2169/internalmedicine.2953-19. Epub 2019 Jun 7.

9.

Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells.

Sekine SI, Kaneko M, Tanaka M, Ninomiya Y, Kurita H, Inden M, Yamada M, Hayashi Y, Inuzuka T, Mitsui J, Ishiura H, Iwata A, Fujigasaki H, Tamaki H, Tamaki R, Kito S, Taguchi Y, Tanaka K, Atsuta N, Sobue G, Kondo T, Inoue H, Tsuji S, Hozumi I.

Sci Rep. 2019 Apr 5;9(1):5698. doi: 10.1038/s41598-019-42115-y.

10.

Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism.

Kajii TS, Oka A, Saito F, Mitsui J, Iida J.

Bone. 2019 May;122:193-198. doi: 10.1016/j.bone.2019.03.004. Epub 2019 Mar 5.

PMID:
30849546
11.

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations.

Naruse H, Matsukawa T, Ishiura H, Mitsui J, Takahashi Y, Takano H, Goto J, Toda T, Tsuji S.

Neurogenetics. 2019 May;20(2):65-71. doi: 10.1007/s10048-019-00570-9. Epub 2019 Mar 7.

PMID:
30847648
12.

Oxygen consumption rate for evaluation of COQ2 variants associated with multiple system atrophy.

Yasuda T, Matsukawa T, Mitsui J, Tsuji S.

Neurogenetics. 2019 Mar;20(1):51-52. doi: 10.1007/s10048-018-0563-7. Epub 2019 Jan 7. No abstract available.

PMID:
30613928
13.

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Enomoto Y, Tsurusaki Y, Yokoi T, Abe-Hatano C, Ida K, Naruto T, Mitsui J, Tsuji S, Morishita S, Kurosawa K.

Eur J Med Genet. 2020 Jan;63(1):103610. doi: 10.1016/j.ejmg.2018.12.015. Epub 2018 Dec 30.

PMID:
30602132
14.

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

Ichinose Y, Ishiura H, Tanaka M, Yoshimura J, Doi K, Umeda T, Yamauchi H, Tsuchiya M, Koh K, Yamashiro N, Mitsui J, Goto J, Onishi H, Ohtsuka T, Shindo K, Morishita S, Tsuji S, Takiyama Y.

Parkinsonism Relat Disord. 2019 Apr;61:57-63. doi: 10.1016/j.parkreldis.2018.11.028. Epub 2018 Dec 2.

PMID:
30528172
15.

Simultaneous detection of reduced and oxidized forms of coenzyme Q10 in human cerebral spinal fluid as a potential marker of oxidative stress.

Nagase M, Yamamoto Y, Mitsui J, Tsuji S.

J Clin Biochem Nutr. 2018 Nov;63(3):205-210. doi: 10.3164/jcbn.17-131. Epub 2018 Jun 8.

16.

Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

Koh K, Ichinose Y, Ishiura H, Nan H, Mitsui J, Takahashi J, Sato W, Itoh Y, Hoshino K, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consotium.

J Hum Genet. 2019 Jan;64(1):61-63. doi: 10.1038/s10038-018-0533-9.

PMID:
30410098
17.

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS.

Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Tanaka M, Doi K, Yoshimura J, Morishita S, Goto J, Toda T, Tsuji S.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):537-542. doi: 10.1136/jnnp-2018-318568. Epub 2018 Oct 24.

PMID:
30355605
18.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

Koh K, Ichinose Y, Ishiura H, Nan H, Mitsui J, Takahashi J, Sato W, Itoh Y, Hoshino K, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consotium.

J Hum Genet. 2019 Jan;64(1):55-59. doi: 10.1038/s10038-018-0519-7. Epub 2018 Oct 9. Erratum in: J Hum Genet. 2018 Nov 9;:.

PMID:
30302010
19.

The pathogenesis linked to coenzyme Q10 insufficiency in iPSC-derived neurons from patients with multiple-system atrophy.

Nakamoto FK, Okamoto S, Mitsui J, Sone T, Ishikawa M, Yamamoto Y, Kanegae Y, Nakatake Y, Imaizumi K, Ishiura H, Tsuji S, Okano H.

Sci Rep. 2018 Sep 21;8(1):14215. doi: 10.1038/s41598-018-32573-1.

20.

Host MICA Polymorphism as a Potential Predictive Marker in Response to Chemotherapy for Colorectal Liver Metastases.

Nishioka Y, Shindoh J, Inagaki Y, Gonoi W, Mitsui J, Abe H, Yoshioka R, Yoshida S, Fukayama M, Tsuji S, Hashimoto M, Hasegawa K, Kokudo N.

Dig Dis. 2018;36(6):437-445. doi: 10.1159/000490411. Epub 2018 Jul 3.

PMID:
29969766
21.

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.

Koh K, Ishiura H, Beppu M, Shimazaki H, Ichinose Y, Mitsui J, Kuwabara S, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium.

J Hum Genet. 2018 Sep;63(9):1009-1013. doi: 10.1038/s10038-018-0477-0. Epub 2018 Jun 18.

PMID:
29915212
22.

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H.

Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104.

23.

Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.

Akahira-Azuma M, Tsurusaki Y, Enomoto Y, Mitsui J, Kurosawa K.

Hum Genome Var. 2018 Mar 29;5:18011. doi: 10.1038/hgv.2018.11. eCollection 2018.

24.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Toyoshima Y, Kakita A, Takahashi H, Suzuki Y, Sugano S, Qu W, Ichikawa K, Yurino H, Higasa K, Shibata S, Mitsue A, Tanaka M, Ichikawa Y, Takahashi Y, Date H, Matsukawa T, Kanda J, Nakamoto FK, Higashihara M, Abe K, Koike R, Sasagawa M, Kuroha Y, Hasegawa N, Kanesawa N, Kondo T, Hitomi T, Tada M, Takano H, Saito Y, Sanpei K, Onodera O, Nishizawa M, Nakamura M, Yasuda T, Sakiyama Y, Otsuka M, Ueki A, Kaida KI, Shimizu J, Hanajima R, Hayashi T, Terao Y, Inomata-Terada S, Hamada M, Shirota Y, Kubota A, Ugawa Y, Koh K, Takiyama Y, Ohsawa-Yoshida N, Ishiura S, Yamasaki R, Tamaoka A, Akiyama H, Otsuki T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.

Nat Genet. 2018 Apr;50(4):581-590. doi: 10.1038/s41588-018-0067-2. Epub 2018 Mar 5.

PMID:
29507423
25.

Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene.

Tanaka Y, Sone T, Higurashi N, Sakuma T, Suzuki S, Ishikawa M, Yamamoto T, Mitsui J, Tsuji H, Okano H, Hirose S.

Stem Cell Res. 2018 Apr;28:100-104. doi: 10.1016/j.scr.2018.01.036. Epub 2018 Feb 2.

26.

Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.

Udagawa T, Harita Y, Miura K, Mitsui J, Ode KL, Morishita S, Urae S, Kanda S, Kajiho Y, Tsurumi H, Ueda HR, Tsuji S, Saito A, Oka A.

Sci Rep. 2018 Feb 5;8(1):2351. doi: 10.1038/s41598-018-20731-4.

27.

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis.

Tohnai G, Nakamura R, Sone J, Nakatochi M, Yokoi D, Katsuno M, Watanabe H, Watanabe H, Ito M, Li Y, Izumi Y, Morita M, Taniguchi A, Kano O, Oda M, Kuwabara S, Abe K, Aiba I, Okamoto K, Mizoguchi K, Hasegawa K, Aoki M, Hattori N, Onodera O, Naruse H, Mitsui J, Takahashi Y, Goto J, Ishiura H, Morishita S, Yoshimura J, Doi K, Tsuji S, Nakashima K, Kaji R, Atsuta N, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS).

Neurobiol Aging. 2018 Apr;64:158.e15-158.e19. doi: 10.1016/j.neurobiolaging.2017.12.005. Epub 2017 Dec 11.

PMID:
29398122
28.

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

Tanabe H, Higuchi Y, Yuan JH, Hashiguchi A, Yoshimura A, Ishihara S, Nozuma S, Okamoto Y, Matsuura E, Ishiura H, Mitsui J, Takashima R, Kokubun N, Maeda K, Asano Y, Sunami Y, Kono Y, Ishigaki Y, Yanamoto S, Fukae J, Kida H, Morita M, Tsuji S, Takashima H.

J Peripher Nerv Syst. 2018 Mar;23(1):40-48. doi: 10.1111/jns.12252. Epub 2018 Feb 14.

29.

A Japanese family with mutation in the proteinase inhibitor 12 L47P gene: A case report.

Amano-Takeshige H, Oyama G, Kanai K, Miyagawa T, Mitsui J, Ugawa Y, Tsuji S, Hattori N.

J Neurol Sci. 2018 Jan 15;384:126-128. doi: 10.1016/j.jns.2017.11.029. Epub 2017 Nov 22. No abstract available.

PMID:
29249370
30.

A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese Patient.

Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J.

Intern Med. 2018 Mar 15;57(6):877-882. doi: 10.2169/internalmedicine.9588-17. Epub 2017 Dec 8.

31.

Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.

Naruse H, Ishiura H, Mitsui J, Date H, Takahashi Y, Matsukawa T, Tanaka M, Ishii A, Tamaoka A, Hokkoku K, Sonoo M, Segawa M, Ugawa Y, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S.

Neurobiol Aging. 2018 Jan;61:255.e9-255.e16. doi: 10.1016/j.neurobiolaging.2017.08.030. Epub 2017 Sep 6.

PMID:
29033165
32.

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.

Kurihara M, Ishiura H, Sasaki T, Otsuka J, Hayashi T, Terao Y, Matsukawa T, Mitsui J, Kaneko J, Nishiyama K, Doi K, Yoshimura J, Morishita S, Shimizu J, Tsuji S.

Cerebellum. 2018 Apr;17(2):237-242. doi: 10.1007/s12311-017-0883-4.

PMID:
28895081
33.

Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.

Ando M, Okamoto Y, Yoshimura A, Yuan JH, Hiramatsu Y, Higuchi Y, Hashiguchi A, Mitsui J, Ishiura H, Fukumura S, Matsushima M, Ochi N, Tsugawa J, Morishita S, Tsuji S, Takashima H.

Eur J Neurol. 2017 Oct;24(10):1274-1282. doi: 10.1111/ene.13360. Epub 2017 Aug 3.

PMID:
28771897
34.

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M, Hashiguchi A, Okamoto Y, Yoshimura A, Hiramatsu Y, Yuan J, Higuchi Y, Mitsui J, Ishiura H, Umemura A, Maruyama K, Matsushige T, Morishita S, Nakagawa M, Tsuji S, Takashima H.

J Peripher Nerv Syst. 2017 Sep;22(3):191-199. doi: 10.1111/jns.12228. Epub 2017 Jul 30. Erratum in: J Peripher Nerv Syst. 2018 Jun;23(2):149-150.

35.

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Aida N, Kurosawa K.

Hum Genome Var. 2017 Jun 8;4:17019. doi: 10.1038/hgv.2017.19. eCollection 2017.

36.

Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing.

Eriguchi Y, Kuwabara H, Inai A, Kawakubo Y, Nishimura F, Kakiuchi C, Tochigi M, Ohashi J, Aoki N, Kato K, Ishiura H, Mitsui J, Tsuji S, Doi K, Yoshimura J, Morishita S, Shimada T, Furukawa M, Umekage T, Sasaki T, Kasai K, KanoMD PhD Y.

Am J Med Genet B Neuropsychiatr Genet. 2017 Oct;174(7):712-723. doi: 10.1002/ajmg.b.32559. Epub 2017 Jun 13.

PMID:
28608572
37.

Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH.

Sato NS, Maekawa R, Ishiura H, Mitsui J, Naruse H, Tokushige SI, Sugie K, Tate G, Shimizu J, Goto J, Tsuji S, Shiio Y.

Ann Clin Transl Neurol. 2017 May 22;4(6):415-421. doi: 10.1002/acn3.417. eCollection 2017 Jun.

38.

Letter re: A genome-wide association study in multiple system atrophy.

Tsuji S, Mitsui J.

Neurology. 2017 Mar 28;88(13):1296. doi: 10.1212/WNL.0000000000003782. No abstract available.

PMID:
28348122
39.

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.

Yamashita T, Mitsui J, Shimozawa N, Takashima S, Umemura H, Sato K, Takemoto M, Hishikawa N, Ohta Y, Matsukawa T, Ishiura H, Yoshimura J, Doi K, Morishita S, Tsuji S, Abe K.

J Neurol Sci. 2017 Apr 15;375:424-429. doi: 10.1016/j.jns.2017.02.058. Epub 2017 Feb 27.

PMID:
28320181
40.

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease.

Harigaya Y, Matsukawa T, Fujita Y, Mizushima K, Ishiura H, Mitsui J, Morishita S, Shoji M, Ikeda Y, Tsuji S.

Neurol Genet. 2017 Feb 24;3(2):e138. doi: 10.1212/NXG.0000000000000138. eCollection 2017 Apr. No abstract available.

41.

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.

Yoshimura A, Yuan JH, Hashiguchi A, Hiramatsu Y, Ando M, Higuchi Y, Nakamura T, Okamoto Y, Matsumura K, Hamano T, Sawaura N, Shimatani Y, Kumada S, Okumura Y, Miyahara J, Yamaguchi Y, Kitamura S, Haginoya K, Mitsui J, Ishiura H, Tsuji S, Takashima H.

Clin Genet. 2017 Sep;92(3):274-280. doi: 10.1111/cge.13002. Epub 2017 Apr 19.

PMID:
28244113
42.

Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations.

Mitsui J, Koguchi K, Momose T, Takahashi M, Matsukawa T, Yasuda T, Tokushige SI, Ishiura H, Goto J, Nakazaki S, Kondo T, Ito H, Yamamoto Y, Tsuji S.

Cerebellum. 2017 Jun;16(3):664-672. doi: 10.1007/s12311-017-0846-9.

43.

Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.

Matsukawa T, Koshi KM, Mitsui J, Bannai T, Kawabe M, Ishiura H, Terao Y, Shimizu J, Murayama K, Yoshimura J, Doi K, Morishita S, Tsuji S, Goto J.

J Neurol Sci. 2017 Jan 15;372:6-10. doi: 10.1016/j.jns.2016.11.009. Epub 2016 Nov 9.

PMID:
28017249
44.

Altered expression of Crb2 in podocytes expands a variation of CRB2 mutations in steroid-resistant nephrotic syndrome.

Udagawa T, Jo T, Yanagihara T, Shimizu A, Mitsui J, Tsuji S, Morishita S, Onai R, Miura K, Kanda S, Kajiho Y, Tsurumi H, Oka A, Hattori M, Harita Y.

Pediatr Nephrol. 2017 May;32(5):801-809. doi: 10.1007/s00467-016-3549-4. Epub 2016 Dec 10.

PMID:
27942854
45.

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.

Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, Yoshimura J, Doi K, Kenmochi N, Morishita S, Nishino I, Tsuji S, Nunoi H.

J Hum Genet. 2017 Apr;62(4):473-480. doi: 10.1038/jhg.2016.149. Epub 2016 Dec 8.

PMID:
27928163
46.

Plasma Coenzyme Q10 Levels and Multiple System Atrophy-Reply.

Mitsui J, Tsuji S.

JAMA Neurol. 2016 Dec 1;73(12):1499-1500. doi: 10.1001/jamaneurol.2016.4133. No abstract available.

PMID:
27775750
47.

Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines.

Fujimori K, Tezuka T, Ishiura H, Mitsui J, Doi K, Yoshimura J, Tada H, Matsumoto T, Isoda M, Hashimoto R, Hattori N, Takahashi T, Morishita S, Tsuji S, Akamatsu W, Okano H.

Mol Brain. 2016 Oct 3;9(1):88.

48.

Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.

Mitsui J, Matsukawa T, Yasuda T, Ishiura H, Tsuji S.

JAMA Neurol. 2016 Aug 1;73(8):977-80. doi: 10.1001/jamaneurol.2016.1325.

PMID:
27356913
49.

AgIn: measuring the landscape of CpG methylation of individual repetitive elements.

Suzuki Y, Korlach J, Turner SW, Tsukahara T, Taniguchi J, Qu W, Ichikawa K, Yoshimura J, Yurino H, Takahashi Y, Mitsui J, Ishiura H, Tsuji S, Takeda H, Morishita S.

Bioinformatics. 2016 Oct 1;32(19):2911-9. doi: 10.1093/bioinformatics/btw360. Epub 2016 Jun 17.

50.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP.

Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253.

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