Publications by authors named "Hiroyuki Ishiura"

100Publications

Familial dementia with Lewy bodies with VPS13C mutations.

Parkinsonism Relat Disord 2020 Oct 7;81:31-33. Epub 2020 Oct 7.

Department of Psychiatry, Yamagata University School of Medicine, Yamagata, Japan.

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http://dx.doi.org/10.1016/j.parkreldis.2020.10.008DOI Listing
October 2020

Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders.

Mov Disord 2020 Oct 7. Epub 2020 Oct 7.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.28302DOI Listing
October 2020

Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.

J Hum Genet 2020 Sep 12. Epub 2020 Sep 12.

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

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http://dx.doi.org/10.1038/s10038-020-00830-9DOI Listing
September 2020

Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel mutations.

Amyotroph Lateral Scler Frontotemporal Degener 2020 Sep 1:1-3. Epub 2020 Sep 1.

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

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http://dx.doi.org/10.1080/21678421.2020.1813312DOI Listing
September 2020

Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.

Neurogenetics 2020 Aug 19. Epub 2020 Aug 19.

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/s10048-020-00626-1DOI Listing
August 2020

Advances in repeat expansion diseases and a new concept of repeat motif-phenotype correlation.

Curr Opin Genet Dev 2020 Aug 7;65:176-185. Epub 2020 Aug 7.

Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2020.05.029DOI Listing
August 2020

Do eye movements "age" earlier in progeria?

Clin Neurophysiol 2020 Aug 3;131(8):1835-1836. Epub 2020 Jun 3.

Department of Human Neurophysiology, Fukushima Medical University, Japan.

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http://dx.doi.org/10.1016/j.clinph.2020.05.019DOI Listing
August 2020

Adult-onset neuronal intranuclear inclusion disease mimicking Fragile X-associated tremor-ataxia syndrome in ethnic Chinese patients.

Parkinsonism Relat Disord 2020 05 8;74:25-27. Epub 2020 Apr 8.

Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan; Institute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.025DOI Listing
May 2020

A novel mutation in the gene in a Japanese patient with SPG46: A case report.

eNeurologicalSci 2020 Jun 2;19:100238. Epub 2020 Apr 2.

Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.

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http://dx.doi.org/10.1016/j.ensci.2020.100238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139103PMC
June 2020

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

J Peripher Nerv Syst 2020 06 12;25(2):125-131. Epub 2020 Mar 12.

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.

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http://dx.doi.org/10.1111/jns.12369DOI Listing
June 2020

VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.

Mol Genet Genomic Med 2020 03 26;8(3):e1108. Epub 2019 Dec 26.

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

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http://dx.doi.org/10.1002/mgg3.1108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057107PMC
March 2020

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

Nat Commun 2019 10 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

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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6875453PMC
November 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

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

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

J Neurol Neurosurg Psychiatry 2019 05 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Nat Commun 2016 Apr 15;7:11253. Epub 2016 Apr 15.

Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales 2109, Australia.

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http://dx.doi.org/10.1038/ncomms11253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835537PMC
April 2016

Atypical parkinsonism caused by Pro105Leu mutation of prion protein: A broad clinical spectrum.

Neurol Genet 2016 Feb 7;2(1):e48. Epub 2016 Jan 7.

Department of Neurology (K.K.M., T.M., J.M., H.I., S.-i.T., Y. Takahashi, N.S.S., F.K.N., Y.I., Y.N., Y. Terao, J.S., M.H., S.T., J.G.), Graduate School of Medicine, The University of Tokyo; Shonai Amarume Hospital (Y. Takahashi); Department of Neurology (Y.U.), Toranomon Hospital; Department of Neurology (G. Oyama), Juntendo University; Department of Neurology (G. Ogawa), Teikyo University; and Department of Computational Biology and Medical Sciences (J.Y., K.D., S.M.), Graduate School of Frontier Sciences, The University of Tokyo. Y. Takahashi is currently affiliated with the Department of Neurology, National Center of Psychiatry and Neurology. Y.I. is currently affiliated with the Department of Neurology, Kyorin University.

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http://dx.doi.org/10.1212/NXG.0000000000000048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817902PMC
February 2016

Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.

Clin Neurol Neurosurg 2016 May 4;144:36-8. Epub 2016 Mar 4.

Department of Neurology, Graduate School of Medical Science, University of Yamanashi, Yamanashi 409-3898, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2016.02.031DOI Listing
May 2016

Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.

J Neurogenet 2015 ;29(2-3):85-94

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

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http://dx.doi.org/10.3109/01677063.2015.1085980DOI Listing
August 2016

[Molecular genetics and gene analysis of hereditary spastic paraplegia].

Authors:
Hiroyuki Ishiura

Rinsho Shinkeigaku 2014 ;54(12):1016-7

Department of Neurology, The University of Tokyo.

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http://dx.doi.org/10.5692/clinicalneurol.54.1016DOI Listing
October 2015

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.

J Hum Genet 2015 Apr 29;60(4):217-20. Epub 2015 Jan 29.

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

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http://dx.doi.org/10.1038/jhg.2015.3DOI Listing
April 2015

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.

Neurology 2014 Feb 24;82(8):705-12. Epub 2014 Jan 24.

From the Laboratory of Medical Therapeutics and Molecular Therapeutics (Y.M., M. Takagi, Y.H., M.K., I.H.), Gifu Pharmaceutical University, Gifu; Department of Neurology (M. Tanaka, H. I., J.M., S. Tsuji), The University of Tokyo; Department of Neurology (N.A., G.S.), Nagoya University; Department of Neuropsychiatry (S.K.), Sapporo Medical University, Sapporo; Department of Neurology (Y.Y., S. Takashima, K.T.), Toyama University Hospital, Toyama; Department of Neurology (T.T.), Kagawa University Hospital, Kagawa; Department of Neurology (H.H,S.M.), Tokyo Metropolitan Institute of Gerontology, Tokyo; Department of Neurology and Geriatrics (M.Y., Y.H., T.I.), and Division of Genomic Research, Life Science Research Center (N.S.), Gifu University, Gifu, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000000143DOI Listing
February 2014

[Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is caused by a mutation in TFG].

Rinsho Shinkeigaku 2013 ;23(11):1203-5

Department of Neurology, The University of Tokyo.

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http://dx.doi.org/10.5692/clinicalneurol.53.1203DOI Listing
April 2015

Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing.

Bioinformatics 2014 Mar 8;30(6):815-22. Epub 2013 Nov 8.

Department of Computational Biology, Graduate School of Frontier Sciences, The University of Tokyo, Chiba 277-8562, Department of Information and Communication Engineering, Faculty of Engineering and Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.

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http://dx.doi.org/10.1093/bioinformatics/btt647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957077PMC
March 2014

A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.

J Bone Miner Res 2014 Apr;29(4):992-8

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

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http://dx.doi.org/10.1002/jbmr.2091DOI Listing
April 2014

Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.

J Neurol Sci 2013 Aug 18;331(1-2):158-60. Epub 2013 Jun 18.

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

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http://dx.doi.org/10.1016/j.jns.2013.05.018DOI Listing
August 2013

[Present efforts in the medical genome center at the University of Tokyo Hospital].

Brain Nerve 2013 Mar;65(3):247-55

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

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March 2013

CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.

Am J Med Genet B Neuropsychiatr Genet 2012 Dec 4;159B(8):951-7. Epub 2012 Oct 4.

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

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http://dx.doi.org/10.1002/ajmg.b.32100DOI Listing
December 2012

Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.

Neurogenetics 2012 Aug 24;13(3):237-43. Epub 2012 May 24.

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/s10048-012-0330-0DOI Listing
August 2012

Hypertrophic pachymeningitis and tracheobronchial stenosis in IgG4-related disease: case presentation and literature review.

Intern Med 2012 15;51(8):935-41. Epub 2012 Apr 15.

Division of Rheumatic Diseases, National Center for Global Health and Medicine, Japan.

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http://dx.doi.org/10.2169/internalmedicine.51.6604DOI Listing
January 2013

[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers].

Rinsho Shinkeigaku 2011 Nov;51(11):970-2

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

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http://dx.doi.org/10.5692/clinicalneurol.51.970DOI Listing
November 2011