Shoji Tsuji

Shoji Tsuji

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Shoji Tsuji

Publications by authors named "Shoji Tsuji"

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Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction.

Intern Med 2019 Nov 10;58(21):3163-3165. Epub 2019 Jul 10.

Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan.

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http://dx.doi.org/10.2169/internalmedicine.2765-19DOI Listing
November 2019

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

J Hum Genet 2019 Nov 12;64(11):1055-1065. Epub 2019 Sep 12.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.

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http://dx.doi.org/10.1038/s10038-019-0670-9DOI Listing
November 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 Oct 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Gut Microbiota Dysbiosis in Children with Relapsing Idiopathic Nephrotic Syndrome.

Am J Nephrol 2018 13;47(3):164-170. Epub 2018 Mar 13.

Department of Pediatrics, Kansai Medical University, Osaka, Japan.

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http://dx.doi.org/10.1159/000487557DOI Listing
September 2019

Increased facilitation of the primary motor cortex in de novo Parkinson's disease.

Parkinsonism Relat Disord 2019 Sep 18;66:125-129. Epub 2019 Jul 18.

Department of Neurology, Division of Neuroscience, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan; Division of Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago-shi, Tottori-ken, 683-8503, Japan.

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http://dx.doi.org/10.1016/j.parkreldis.2019.07.022DOI Listing
September 2019

Effects of L-DOPA on quadripulse magnetic stimulation-induced long-term potentiation in older adults.

Neurobiol Aging 2019 Aug 9. Epub 2019 Aug 9.

Department of Neurology, University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.08.005DOI Listing
August 2019

Natural course of isolated mild congenital hydronephrosis: A 2-year prospective study at a single center in Japan.

Int J Urol 2019 Jun 18;26(6):643-647. Epub 2019 Mar 18.

Department of Pediatrics, Kansai Medical University, Hirakata, Osaka, Japan.

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http://dx.doi.org/10.1111/iju.13948DOI Listing
June 2019

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

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

Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2018-318568
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http://dx.doi.org/10.1136/jnnp-2018-318568DOI Listing
May 2019

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

Neurogenetics 2019 05 7;20(2):65-71. Epub 2019 Mar 7.

Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo, 113-8655, Japan.

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http://dx.doi.org/10.1007/s10048-019-00570-9DOI Listing
May 2019

[Intestinal microbiota and kidney disease in pediatrics].

Nihon Jinzo Gakkai Shi 2017 ;59(4):568-573

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March 2019

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

Neurogenetics 2019 03 7;20(1):51-52. Epub 2019 Jan 7.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

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http://dx.doi.org/10.1007/s10048-018-0563-7DOI Listing
March 2019

Effect of Delivery Mode and Nutrition on Gut Microbiota in Neonates.

Ann Nutr Metab 2019 4;74(2):132-139. Epub 2019 Feb 4.

Department of Pediatrics, Kansai Medical University, Hirakata, Osaka, Japan,

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http://dx.doi.org/10.1159/000496427DOI Listing
February 2019

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

J Hum Genet 2019 Jan 9;64(1):55-59. Epub 2018 Oct 9.

Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.

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http://www.nature.com/articles/s10038-018-0519-7
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http://dx.doi.org/10.1038/s10038-018-0519-7DOI Listing
January 2019

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

J Hum Genet 2019 01;64(1):61-63

Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, Yamanashi, Japan.

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http://www.nature.com/articles/s10038-018-0533-9
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http://dx.doi.org/10.1038/s10038-018-0533-9DOI Listing
January 2019

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

Eur J Med Genet 2018 Dec 30:103610. Epub 2018 Dec 30.

Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183015
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http://dx.doi.org/10.1016/j.ejmg.2018.12.015DOI Listing
December 2018

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

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

Hepato-Biliary-Pancreatic Surgery Division, Department of Surgery, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

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http://dx.doi.org/10.1159/000490411DOI Listing
November 2018

Nocturnal enuresis and poor sleep quality.

Pediatr Int 2018 Nov;60(11):1020-1023

Department of Pediatrics, Kansai Medical University, Osaka, Japan.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/ped.13703
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http://dx.doi.org/10.1111/ped.13703DOI Listing
November 2018

Effect of subthalamic nucleus deep brain stimulation on visual scanning.

Clin Neurophysiol 2018 11 30;129(11):2421-2432. Epub 2018 Aug 30.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183118
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http://dx.doi.org/10.1016/j.clinph.2018.08.003DOI Listing
November 2018

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

J Clin Biochem Nutr 2018 Nov 8;63(3):205-210. Epub 2018 Jun 8.

Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo, Tokyo 113-8655, Japan.

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http://dx.doi.org/10.3164/jcbn.17-131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252302PMC
November 2018

HIV Dementia with a Decreased Cardiac I-metaiodobenzylguanidine Uptake Masquerading as Dementia with Lewy Bodies.

Intern Med 2018 Oct 18;57(20):3007-3010. Epub 2018 May 18.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.

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http://dx.doi.org/10.2169/internalmedicine.0876-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232034PMC
October 2018

Methylation changes and aberrant expression of FGFR3 in Lewy body disease neurons.

Brain Res 2018 10 15;1697:59-66. Epub 2018 Jun 15.

Department of Neurology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00068993183034
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http://dx.doi.org/10.1016/j.brainres.2018.06.017DOI Listing
October 2018

Optic neuropathy and decorticate-like posture as presenting symptoms of Bickerstaff's brainstem encephalitis: A case report and literature review.

Clin Neurol Neurosurg 2018 10 16;173:159-162. Epub 2018 Aug 16.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.clineuro.2018.08.019DOI Listing
October 2018

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

J Hum Genet 2018 Sep 18;63(9):1009-1013. Epub 2018 Jun 18.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, Japan.

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http://dx.doi.org/10.1038/s10038-018-0477-0DOI Listing
September 2018

JASPAC: Japan Spastic Paraplegia Research Consortium.

Brain Sci 2018 Aug 13;8(8). Epub 2018 Aug 13.

Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, 409-3898 Yamanashi, Japan.

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http://www.mdpi.com/2076-3425/8/8/153
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http://dx.doi.org/10.3390/brainsci8080153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119894PMC
August 2018

No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY.

J Hum Genet 2018 Jul 18;63(7):821-829. Epub 2018 Apr 18.

Department of Diabetes and Endocrinology, Graduate School of Medicine, Gifu University, Gifu, Japan.

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http://dx.doi.org/10.1038/s10038-018-0449-4DOI Listing
July 2018

Ketotic hyperglycemia-related seizure with reversible white matter lesion: Metabolic implication of its reversibility based on magnetic resonance spectroscopy study.

J Neurol Sci 2018 07 6;390:20-21. Epub 2018 Apr 6.

Department of Neurology, The University of Tokyo Hospital, 7-3-1 Hongo Bunkyo-ku, Tokyo 113-8655, Japan.

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http://dx.doi.org/10.1016/j.jns.2018.04.006DOI Listing
July 2018

Optineurin pathology in the spinal cord of amyotrophic lateral sclerosis/parkinsonism-dementia complex patients in Kii Peninsula, Japan.

Brain Pathol 2018 05;28(3):422-426

Department of Neuropathology, Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Tokyo, Japan.

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http://doi.wiley.com/10.1111/bpa.12558
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http://dx.doi.org/10.1111/bpa.12558DOI Listing
May 2018

Antiproteinuric effect of an endothelin-1 receptor antagonist in puromycin aminonucleoside-induced nephrosis in rat.

Pediatr Res 2018 05 21;83(5):1041-1048. Epub 2018 Feb 21.

Department of Pediatrics, Kansai Medical University, Osaka, Japan.

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http://dx.doi.org/10.1038/pr.2018.11DOI Listing
May 2018

Risk factors for sodium valproate-induced renal tubular dysfunction.

Clin Exp Nephrol 2018 Apr 23;22(2):420-425. Epub 2017 Aug 23.

Department of Pediatrics, Kansai Medical University, 2-5-1 Shin-machi, Hirakata-shi, Osaka, 573 1010, Japan.

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http://dx.doi.org/10.1007/s10157-017-1472-zDOI Listing
April 2018

The Effect of Family Assistance to Wake Children with Monosymptomatic Enuresis in Alarm Therapy: A Pilot Study.

J Urol 2018 04 23;199(4):1056-1060. Epub 2017 Nov 23.

Department of Pediatrics, Kansai Medical University, Osaka, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.juro.2017.11.072DOI Listing
April 2018

Authors' reply to the Drs. Finsterer and Zarrouk-Mahjoub's comments for our case report.

Int J Cardiol 2018 03 30;254:262. Epub 2017 Jun 30.

Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Japan.

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http://dx.doi.org/10.1016/j.ijcard.2017.06.111DOI Listing
March 2018

Degeneration of the Substantia Nigra Following Ipsilateral Striatal Infarction.

Intern Med 2018 03 20;57(5):767-768. Epub 2017 Nov 20.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.

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http://dx.doi.org/10.2169/internalmedicine.9442-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5874359PMC
March 2018

Urinary C-megalin for screening of renal scarring in children after febrile urinary tract infection.

Pediatr Res 2018 03 6;83(3):662-668. Epub 2017 Dec 6.

Department of Pediatrics, Kansai Medical University, Hirakata, Japan.

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http://dx.doi.org/10.1038/pr.2017.276DOI Listing
March 2018

Association of subclinical carotid atherosclerosis with immediate memory and other cognitive functions.

Geriatr Gerontol Int 2018 Jan 4;18(1):65-71. Epub 2017 Aug 4.

Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan.

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http://dx.doi.org/10.1111/ggi.13142DOI Listing
January 2018

Cilostazol alleviates white matter degeneration caused by chronic cerebral hypoperfusion in mice: Implication of its mechanism from gene expression analysis.

Neurosci Lett 2018 Jan 5;662:247-252. Epub 2017 Nov 5.

Department of Neurology, The University of Tokyo Graduate School of Medicine, Japan.

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http://dx.doi.org/10.1016/j.neulet.2017.10.045DOI Listing
January 2018

Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting.

Neurology 2018 01 13;90(2):74-82. Epub 2017 Dec 13.

From Muhammad Ali Parkinson Center (R.R.W.), Barrow Neurological Institute, Phoenix, AZ; Department of Neurology (F.K., G.K.W., W.P., K.S., N.S.), Medical University Innsbruck, Austria; National Institute of Neurological Disorders and Stroke (W.R.G., W.J.K.), NIH, Bethesda, MD; Department of Neurology (P.A.L.), Mayo Clinic, Rochester, MN; Brain and Mind Centre (G.H.), Sydney Medical School, the University of Sydney; UNSW Medicine & Neuroscience Research Australia (G.H.), Sydney; Queen Square Brain Bank (J.H.), UCL Institute of Neurology (N.P.Q.), London, UK; UPS, INSERM, and CHU de Toulouse (O.R.), University de Toulouse; Centre de Référence Maladie Rare contre l'AMS (O.R.), Centre d'Investigation Clinique CIC1436, Départments de Pharmacologie Clinique et de Neurosciences, NeuroToul/COEN Center of Excellence in Neurodegeneration, Toulouse, France; Department of Pathology & Laboratory Medicine (L.M.S.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Center for Neurosciences (D.E.), The Feinstein Institute for Medical Research, Manhasset, NY; The Multiple System Atrophy (MSA) Coalition, Inc. (P. B., J.B., P.F., L.K., C.L., C.R., S.S.), Charlotte, NC; Cleveland Clinic Lou Ruvo Center for Brain Health (J.L.C.), Las Vegas, NV; Medical Affairs (V.A.), Teva Pharmaceuticals, Frazer, PA; Department of Neurology (G.B.), David Geffen School of Medicine, Brain Research Institute, and Molecular Biology Institute, University of California at Los Angeles; Institute of Neurology (D.J.B.), University of Newcastle upon Tyne, UK; Van Andel Research Institute (P. Brundin), Center for Neurodegenerative Science, Grand Rapids, MI; Center for Neurological Restoration (H.F.), Cleveland Clinic, OH; Defeat MSA (P.F.); MSA Shoe Charity (P.F., C.R.), Saint Clair Shores, MI; Department of Neurology (R.F.), Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA; Department of Neurodegenerative Diseases (T.G.), Hertie Institute of Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (T.G.), Tübingen, Germany; Lundbeck LLC (A.H.), Deerfield, IL; German Center for Neurodegenerative Diseases (DZNE) (G.U.H.), Munich; Department of Neurology (G.U.H.), Technical University of Munich, Germany; Neurogenomics Division (M.J.H.), The Translational Genomics Research Institute, Phoenix, AZ; Dandrite & Department of Biomedicine (P.H.J.), Aarhus University, Denmark; Quanterix (A.J.), Lexington, MA; Department of Neurology (U.J.K.), Columbia University Medical Center; Department of Neurology (H.K.), New York University School of Medicine, New York; Whitehead Institute for Biomedical Research (V.K.), Cambridge; Ann Romney Center for Neurologic Disease (V.K.), Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston; Harvard Stem Cell Institute (V.K.), Cambridge, MA; Department of Neurology (T.K.), University of Bonn; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Bonn, Germany; Brain and Mind Centre (W.S.K.), Sydney Medical School, University of Sydney, Australia; Department of Neurology (P.L.), Henry Ford Hospital; Department of Neurology (P.L.), Wayne State University School of Medicine, Detroit, MI; Division of Neurosciences (E.M.), National Institute on Aging/NIH, Bethesda, MD; Centre de Référence Maladie Rare AMS (W.M.), Hôpital Pellegrin, CHU de Bordeaux; Université de Bordeaux (W.M.), Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux; Paris Saclay Institute of Neuroscience (R.M.), CNRS, Gif-sur-Yvette, France; Genentech Inc. (S.O.), South San Francisco; Cedars-Sinai Medical Center (S.P.), Los Angeles, CA; Department of Neurology (D.R.), Vanderbilt University Medical Center, Nashville, TN; MSA NJ (C.R.), Howell, NJ; Prothena Biosciences (D.S.), South San Francisco, CA; Division of Neurology (M.S.), Department of Medicine, The Ottawa Hospital, Canada; Department of Neurology (J.D.S.), Massachusetts General Hospital, Harvard Medical School, Boston, MA; Cure MSA Foundation (L.S.), Fremont, CA; Avid Radiopharmaceuticals (A.S.), Philadelphia, PA; Department of Neurological Sciences (G.T.S.), Rush University Medical Center, Chicago, IL; Department of Neurology (S.T.), Graduate School of Medicine, Tokyo University, Tokyo, Japan; and University of Washington (J.Z.), Seattle. W.R.G. is currently affiliated with Janssen Research and Development, Titusville, NJ.

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http://dx.doi.org/10.1212/WNL.0000000000004798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772155PMC
January 2018

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

J Neurol Sci 2018 01 22;384:126-128. Epub 2017 Nov 22.

Department of Neurology, Juntendo University Faculty of Medicine, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.jns.2017.11.029DOI Listing
January 2018

The incidence and risk factors of asymptomatic primary spontaneous pneumothorax detected during health check-ups.

BMC Pulm Med 2017 Dec 7;17(1):177. Epub 2017 Dec 7.

Department of Respiratory Medicine, The University of Tokyo Hospital, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

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http://dx.doi.org/10.1186/s12890-017-0538-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5721680PMC
December 2017

Identification and segmentation of myelinated nerve fibers in a cross-sectional optical microscopic image using a deep learning model.

J Neurosci Methods 2017 11 31;291:141-149. Epub 2017 Aug 31.

The Department of Neurology, The University of Tokyo Hospital, 1138655, 7-3-1 Hongo, Bunkyo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.jneumeth.2017.08.014DOI Listing
November 2017

Role of gut microbiota in idiopathic nephrotic syndrome in children.

Med Hypotheses 2017 Oct 1;108:35-37. Epub 2017 Aug 1.

Department of Pediatrics, Kansai Medical University, Osaka, Japan.

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http://dx.doi.org/10.1016/j.mehy.2017.07.035DOI Listing
October 2017

Effect of cesarean section on relapse of childhood idiopathic nephrotic syndrome.

Pediatr Int 2017 Oct;59(10):1109-1111

Department of Pediatrics, Kansai Medical University, Osaka, Japan.

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http://dx.doi.org/10.1111/ped.13375DOI Listing
October 2017

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.

J Hum Genet 2017 Sep 11;62(9):857-859. Epub 2017 May 11.

Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1038/jhg.2017.51DOI Listing
September 2017

Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology.

Neurology 2017 Sep 9;89(10):1060-1068. Epub 2017 Aug 9.

From the Department of Neurology (C.I., A.K., K.T., N.U., M.H.M., Y.N., H.I., S.T., J.S.), Graduate School of Medicine, the University of Tokyo; Division of Neurology (M.K., K.K.), Department of Internal Medicine, National Defense Medical College, Saitama; Department of Neurology (A.H.), National Center for Global Health and Medicine; Department of Neurology (M.H.M.), Federation of National Public Service Personnel Mutual Aid Associations Toranomon Hospital; Okinaka Memorial Institute For Medical Research (M.H.M.); and Department of Neurology (J.G.), International University of Health and Welfare, Mita Hospital, Tokyo, Japan.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004333DOI Listing
September 2017

Successful management of chronic myeloid leukemia with a complication of anti-SRP antibody-associated myopathy.

Leuk Lymphoma 2017 05 10;58(5):1242-1245. Epub 2016 Oct 10.

a Department of Hematology and Oncology, Graduate School of Medicine , The University of Tokyo , Tokyo , Japan.

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http://dx.doi.org/10.1080/10428194.2016.1233537DOI Listing
May 2017

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

Pediatr Nephrol 2017 05 10;32(5):801-809. Epub 2016 Dec 10.

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

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http://dx.doi.org/10.1007/s00467-016-3549-4DOI Listing
May 2017

Tacrolimus-Induced Reversible Cerebral Vasoconstriction Syndrome with Delayed Multi-Segmental Vasoconstriction.

J Stroke Cerebrovasc Dis 2017 May 22;26(5):e75-e77. Epub 2017 Mar 22.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2017.03.006DOI Listing
May 2017

Regulatory T cells and CTLA-4 in idiopathic nephrotic syndrome.

Pediatr Int 2017 May;59(5):643-646

Department of Pediatrics, Kansai Medical University, Osaka, Japan.

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http://dx.doi.org/10.1111/ped.13255DOI Listing
May 2017

Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.

Pediatr Nephrol 2017 04 20;32(4):621-625. Epub 2016 Oct 20.

Department of Pediatrics, Kansai Medical University, 2-5-1 Shin-machi, Hirakata, Osaka, 573-1010, Japan.

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http://dx.doi.org/10.1007/s00467-016-3535-xDOI Listing
April 2017

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

J Hum Genet 2017 Apr 8;62(4):473-480. Epub 2016 Dec 8.

Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.

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http://dx.doi.org/10.1038/jhg.2016.149DOI Listing
April 2017

Characteristic Bands Manifesting as Zebra Lines on Radiographs in Osteogenesis Imperfecta.

Indian J Pediatr 2017 04 24;84(4):336. Epub 2017 Feb 24.

Department of Pediatrics, Kansai Medical University, 2-5-1 Shin- machi, Hirakata- shi, Osaka, 573 1010, Japan.

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http://dx.doi.org/10.1007/s12098-017-2316-2DOI Listing
April 2017

Authors' response to "Compound heterozygous Fukutin mutation-related non-compaction" by Finsterer and Zarrouk-Mahjoub.

Int J Cardiol 2017 04;233:102

Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Japan.

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http://dx.doi.org/10.1016/j.ijcard.2017.01.107DOI Listing
April 2017

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

Neurol Genet 2017 Apr 24;3(2):e138. Epub 2017 Feb 24.

Department of Neurology (Y.H., K.M.), Maebashi Red Cross Hospital; Department of Neurology (T.M., H.I., J.M., S.T.), Graduate School of Medicine, Tokyo University; Department of Neurology (Y.F., Y.I.), Gunma University Graduate School of Medicine, Maebashi; Department of Computational Biology and Medical Sciences (S.M.), Graduate School of Frontier Sciences, Tokyo University, Chiba; and Department of Neurology (M.S.), Hirosaki University Graduate School of Medicine, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5327677PMC
April 2017

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

J Neurol Sci 2017 Apr 27;375:424-429. Epub 2017 Feb 27.

Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikatacho, Okayama 700-8558, Japan.. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2017.02.058DOI Listing
April 2017

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

Neurology 2017 03;88(13):1296

Tokyo.

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http://dx.doi.org/10.1212/WNL.0000000000003782DOI Listing
March 2017

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

J Neurol Sci 2017 Jan 9;372:6-10. Epub 2016 Nov 9.

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan; Department of Neurology, International University of Health and Welfare Mita Hospital, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2016.11.009DOI Listing
January 2017

Cancer association as a risk factor for anti-HMGCR antibody-positive myopathy.

Neurol Neuroimmunol Neuroinflamm 2016 Dec 7;3(6):e290. Epub 2016 Oct 7.

Department of Neurology and Anti-aging Medicine (M.K., K. Kaida), National Defense Medical College, Saitama; Department of Neurology (A.H., K.T., C.I., N.U., A.K., S.K., S.T., J.S.), Graduate School of Medicine, The University of Tokyo; Department of Neurology (M.H.M., Y.U.), Toranomon Hospital; Division of Rheumatology (Y.M.), Department of Internal Medicine, Showa University School of Medicine, Tokyo; Pulmonary Medicine and Clinical Immunology (K. Kurasawa), Dokkyo Medical University, Tochigi; Department of Diagnostic and Interventional Radiology (H.S.), Osaka City University, Graduate School of Medicine; Department of Neurology (M.S.), Teikyo University School of Medicine; Department of Neurology (A.C.), Kyorin University; Department of Neurology (Y. Shiio), Tokyo Teishin Hospital; Division of Neurology (Y. Sakurai), Mitsui Memorial Hospital, Tokyo; Department of Neurology (T.I.), Tsukazaki Memorial Hospital, Hyogo; and AXA Department of Health and Human Security, Graduate School of Medicine (M.I.), The University of Tokyo, Japan.

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http://dx.doi.org/10.1212/NXI.0000000000000290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5056647PMC
December 2016

Plasma Coenzyme Q10 Levels and Multiple System Atrophy-Reply.

JAMA Neurol 2016 12;73(12):1499-1500

Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.

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http://dx.doi.org/10.1001/jamaneurol.2016.4133DOI Listing
December 2016

Elevated Serum Uric Acid Levels Are Related to Cognitive Deterioration in an Elderly Japanese Population.

Dement Geriatr Cogn Dis Extra 2016 Sep-Dec;6(3):580-588. Epub 2016 Dec 22.

Department of Neurology, the University of Tokyo, Tokyo, Japan; Japan Science and Technology Agency, PRESTO, Tokyo, Japan.

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http://dx.doi.org/10.1159/000454660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260534PMC
December 2016

Fukutin gene mutations that cause left ventricular noncompaction.

Int J Cardiol 2016 Nov 3;222:727-729. Epub 2016 Aug 3.

Department of Cardiovascular Medicine, Graduate School of Medicine, University of Tokyo, Japan.

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http://dx.doi.org/10.1016/j.ijcard.2016.08.011DOI Listing
November 2016

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

Bioinformatics 2016 10 17;32(19):2911-9. Epub 2016 Jun 17.

Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Chiba 277-8583, Japan.

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http://dx.doi.org/10.1093/bioinformatics/btw360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039925PMC
October 2016

Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy.

JAMA Neurol 2016 08;73(8):977-80

Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

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http://dx.doi.org/10.1001/jamaneurol.2016.1325DOI Listing
August 2016