Ikuya Nonaka

Ikuya Nonaka

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COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Ann Neurol 2019 Aug 2;86(2):193-202. Epub 2019 Jul 2.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1002/ana.25517DOI Listing
August 2019

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.

Mol Genet Genomic Med 2019 05 18;7(5):e621. Epub 2019 Mar 18.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1002/mgg3.621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503166PMC
May 2019

Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement.

Neuromuscul Disord 2019 May 14;29(5):350-357. Epub 2019 Mar 14.

Department of Pediatrics, Peking University First Hospital, No.1 Xi'an Men Street, West District, Beijing 100034, China. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.03.007DOI Listing
May 2019

A Nationwide Survey on Danon Disease in Japan.

Int J Mol Sci 2018 Nov 8;19(11). Epub 2018 Nov 8.

Department of Neuromuscular Research, National Institute of Neurology, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan.

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http://www.mdpi.com/1422-0067/19/11/3507
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http://dx.doi.org/10.3390/ijms19113507DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6274850PMC
November 2018

A novel mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Hum Genome Var 2018 20;5:19. Epub 2018 Jul 20.

2Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1038/s41439-018-0018-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054619PMC
July 2018

Duchenne muscular dystrophy with platypnea-orthodeoxia from Chilaiditi syndrome.

Brain Dev 2018 Apr 20;40(4):339-342. Epub 2017 Nov 20.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604173027
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http://dx.doi.org/10.1016/j.braindev.2017.11.001DOI Listing
April 2018

Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.

J Hum Genet 2018 Feb 22;63(2):249-254. Epub 2017 Nov 22.

Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

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http://dx.doi.org/10.1038/s10038-017-0383-xDOI Listing
February 2018

mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.

Neurol Genet 2017 Oct 8;3(5):e184. Epub 2017 Sep 8.

Department of Child Neurology (A.I., Y.S., E.N., H.K, K.S., M.S.), National Center Hospital; Department of Neuromuscular Research (A.I., S.N., S.M., Y.E., Y.K.H., I. Nonaka, I. Nishino.), National Institute of Neuroscience; Department of Mental Retardation and Birth Defect Research (C.S., Y.M., Y.-i.G.), National Institute of Neuroscience; Department of Radiology (N.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pharmacology (A.I.), Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi; and Department of Pathophysiology (Y.K.H), Tokyo Medical University, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591399PMC
October 2017

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.

Hum Mol Genet 2017 08;26(16):3081-3093

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1093/hmg/ddx192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075185PMC
August 2017

A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.

Neuromuscul Disord 2017 May 18;27(5):477-480. Epub 2017 Jan 18.

Department of Neurology, National Hospital Organization Higashisaitama Hospital, Saitama, Japan.

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http://dx.doi.org/10.1016/j.nmd.2017.01.012DOI Listing
May 2017

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.

Muscle Nerve 2017 04 30;55(4):465-469. Epub 2016 Dec 30.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8551, Japan.

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http://dx.doi.org/10.1002/mus.25369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5396288PMC
April 2017

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.

EBioMedicine 2017 Feb 23;15:193-202. Epub 2016 Dec 23.

Department of Neuromuscular Research, National Institute of Neuroscience, Kodaira, Tokyo, Japan; Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.ebiom.2016.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5233815PMC
February 2017

Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan.

Brain Dev 2016 Oct 21;38(9):785-91. Epub 2016 Apr 21.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.04.001DOI Listing
October 2016

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.

Neurol Genet 2016 Oct 14;2(5):e95. Epub 2016 Sep 14.

Department of Neuromuscular Research (T.T., N. Minami, I.A., S.N., I. Nonaka, S.M., I. Nishino), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (S.H., H.S., G.I., O.A.), Dokkyo Medical University School of Medicine, Tochigi; Department of Mental Retardation and Birth Defect Research (J.O., Y.G.), Division of Genetic Diagnosis (N. Minami), Department of Laboratory Medicine, National Center Hospital, NCNP, Tokyo; Department of Child Neurology (N.S., I.A., M.S.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (N. Murakami), Dokkyo Medical University Koshigaya Hospital, Saitama; and Department of Genome Medicine Development (N. Minami, S.M., I. Nishino), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024793PMC
October 2016

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.

Neuromuscul Disord 2016 09 10;26(9):604-9. Epub 2016 Jun 10.

Department of Neuromuscular Research, National Institute of Neuroscience, Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Centre, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2016.06.005DOI Listing
September 2016

Respiratory and cardiac function in japanese patients with dysferlinopathy.

Muscle Nerve 2016 Mar 27;53(3):394-401. Epub 2016 Jan 27.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1002/mus.24741DOI Listing
March 2016

Hepatitis C virus infection in inclusion body myositis: A case-control study.

Neurology 2016 Jan 18;86(3):211-7. Epub 2015 Dec 18.

From the Department of Genome Medicine Development, Medical Genome Center (A.U., S.N., Y.K.H., I. Nishino), and the Department of Neuromuscular Research, National Institute of Neuroscience (A.U., S.N., Y.K.H., R.S.T., T.Y., I. Nonaka, I. Nishino), National Center of Neurology and Psychiatry (NCNP), Ogawahigashi-cho, Kodaira; and the Department of Pathophysiology (Y.K.H.), Tokyo Medical University, Shinjuku, Shinjuku-ku, Tokyo, Japan.

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http://www.neurology.org/content/early/2015/12/18/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000229
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http://dx.doi.org/10.1212/WNL.0000000000002291DOI Listing
January 2016

Milder forms of muscular dystrophy associated with POMGNT2 mutations.

Neurol Genet 2015 Dec 10;1(4):e33. Epub 2015 Dec 10.

Department of Neuromuscular Research (Y.E., M.D., S. Noguchi, M.O., Y.K.H., I. Nonaka, I. Nishino), National Institute of Neuroscience; and Department of Genome Medicine Development (Y.E., S. Noguchi, I. Nishino), Medical Genome Center, NCNP, Tokyo, Japan; Department of Neurology (M.D.), China-Japan Friendship Hospital, Beijing, China; Department of Pathophysiology (Y.K.H.), Tokyo Medical University; National Hospital Organization Suzuka National Hospital (S.K.), Mie, Japan; Department of Pediatrics (K.S.), Local Independent Administrative Institution, Mie Prefectural General Medical Center; Department of Child Neurology (S. Nagai), Shikoku Medical Center for Children and Adults, Kagawa, Japan; and Department of Pediatrics (S.O.), Kumamoto University, Kumamoto, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811383PMC
December 2015

Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

J Neurol Neurosurg Psychiatry 2015 May 24;86(5):483-9. Epub 2014 Sep 24.

Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Tokyo, Japan.

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http://dx.doi.org/10.1136/jnnp-2014-309009DOI Listing
May 2015

DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.

Neurology 2015 Jan 12;84(3):273-9. Epub 2014 Dec 12.

From the Department of Neuromuscular Research, National Institute of Neuroscience (M.D., S.N., Y.E., Y.K.H., I. Nonaka, I. Nishino) and Department of Clinical Development, Translational Medical Center (S.N., Y.E., Y.K.H., I. Nishino), NCNP, Tokyo, Japan; Department of Neurology (M.D.), China-Japan Friendship Hospital, Beijing, China; Department of Neurophysiology (Y.K.H.), Tokyo Medical University; and Department of Pediatrics (S.Y.), Omihachiman Community Medical Center, Shiga, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000001162DOI Listing
January 2015

Dietary phosphorus overload aggravates the phenotype of the dystrophin-deficient mdx mouse.

Am J Pathol 2014 Nov 28;184(11):3094-104. Epub 2014 Aug 28.

Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2014.07.007DOI Listing
November 2014

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.

Brain 2014 Oct 24;137(Pt 10):2670-9. Epub 2014 Jul 24.

1 Department of Neuromuscular Research, National Institute of Neuroscience, National Centre of Neurology and Psychiatry (NCNP), Tokyo, Japan 4 Department of Clinical Development, Translational Medical Centre, NCNP, Tokyo, Japan

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http://brain.oxfordjournals.org/content/brain/early/2014/07/
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172045PMC
October 2014

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).

J Neurol Neurosurg Psychiatry 2014 Aug 11;85(8):914-7. Epub 2013 Sep 11.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1136/jnnp-2013-305587DOI Listing
August 2014

Congenital fiber type disproportion myopathy caused by LMNA mutations.

J Neurol Sci 2014 May 5;340(1-2):94-8. Epub 2014 Mar 5.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.02.036DOI Listing
May 2014

[Muscle fiber atrophy].

Authors:
Ikuya Nonaka

Rinsho Shinkeigaku 2012 ;52(11):1315-7

National Center of Neurology and Psychiatry.

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http://dx.doi.org/10.5692/clinicalneurol.52.1315DOI Listing
April 2014

A nationwide survey on Marinesco-Sjögren syndrome in Japan.

Orphanet J Rare Dis 2014 Apr 23;9:58. Epub 2014 Apr 23.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1186/1750-1172-9-58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021608PMC
April 2014

[Therapeutic strategies for muscular dystrophy: F based on the international guideline].

No To Hattatsu 2014 Mar;46(2):87-8

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March 2014

Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.

Neuromuscul Disord 2013 Nov 11;23(11):911-6. Epub 2013 Jul 11.

Department of Clinical Neuroscience and Therapeutics, Hiroshima University, Graduate School of Biomedical and Health Sciences, Hiroshima, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.06.003DOI Listing
November 2013

[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

No To Hattatsu 2013 Nov;45(6):452-6

Department of Pediatrics, Sapporo City General Hospital, Sapporo, Hokkaido.

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November 2013

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

PLoS One 2012 14;7(12):e52002. Epub 2012 Dec 14.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0052002PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3522649PMC
September 2013

Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.

J Neurol Neurosurg Psychiatry 2013 Sep 9;84(9):982-8. Epub 2013 Apr 9.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1136/jnnp-2012-304710DOI Listing
September 2013

Intranuclear rods myopathy with autonomic dysfunction.

Brain Dev 2013 Aug 25;35(7):686-9. Epub 2012 Oct 25.

Departments of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

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http://dx.doi.org/10.1016/j.braindev.2012.09.011DOI Listing
August 2013

14-3-3 proteins, particularly of the epsilon isoform, are detectable in cerebrospinal fluids of cerebellar diseases in children.

Brain Dev 2013 Jun 15;35(6):555-60. Epub 2012 Oct 15.

Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.

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http://dx.doi.org/10.1016/j.braindev.2012.09.007DOI Listing
June 2013

Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.

Neuromuscul Disord 2013 May 13;23(5):441-4. Epub 2013 Mar 13.

Department of Pediatrics, Dokkyo Medical University, Koshigaya Hospital, Koshigaya, Saitama, Japan.

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http://dx.doi.org/10.1016/j.nmd.2013.02.005DOI Listing
May 2013

DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.

Neuromuscul Disord 2013 Mar 6;23(3):269-76. Epub 2013 Feb 6.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1016/j.nmd.2012.12.010DOI Listing
March 2013

Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.

Clin Neurol Neurosurg 2012 Jul 19;114(6):678-83. Epub 2012 May 19.

Department of Neurology, National Center Hospital of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

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http://dx.doi.org/10.1016/j.clineuro.2011.10.040DOI Listing
July 2012

Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.

Neuromuscul Disord 2012 May 21;22(5):389-93. Epub 2011 Dec 21.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2011.11.003DOI Listing
May 2012

In vivo characterization of mutant myotilins.

Am J Pathol 2012 Apr 18;180(4):1570-80. Epub 2012 Feb 18.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.ajpath.2011.12.040DOI Listing
April 2012

Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.

J Inherit Metab Dis 2012 Mar 7;35(2):301-10. Epub 2011 Oct 7.

Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8551, Japan.

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http://dx.doi.org/10.1007/s10545-011-9393-6DOI Listing
March 2012

Oculopharyngeal muscular dystrophy associated with dementia.

Intern Med 2011 15;50(20):2409-12. Epub 2011 Oct 15.

Department of Neurology, Faculty of Medicine, Saitama Medical University, Japan.

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http://dx.doi.org/10.2169/internalmedicine.50.5577DOI Listing
February 2012

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.

Neuromuscul Disord 2012 Feb 11;22(2):149-51. Epub 2012 Jan 11.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2011.08.009DOI Listing
February 2012

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.

Dev Biol 2012 Jan 14;361(1):79-89. Epub 2011 Oct 14.

Department of Biological Information, Tokyo Institute of Technology, 4259-B-33 Nagatsuta, Yokohama 226-8501, Japan.

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http://dx.doi.org/10.1016/j.ydbio.2011.10.008DOI Listing
January 2012

Peracetylated N-acetylmannosamine, a synthetic sugar molecule, efficiently rescues muscle phenotype and biochemical defects in mouse model of sialic acid-deficient myopathy.

J Biol Chem 2012 Jan 8;287(4):2689-705. Epub 2011 Dec 8.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1074/jbc.M111.297051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3268427PMC
January 2012

Autosomal dominant late-onset quadriceps myopathy: three patients of a Taiwanese kindred.

Intern Med 2011 1;50(11):1175-81. Epub 2011 Jun 1.

Department of Neurology, Keelung Chang Gung Memorial Hospital, Taiwan.

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http://dx.doi.org/10.2169/internalmedicine.50.5070DOI Listing
October 2011

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

Hum Mol Genet 2011 Oct 12;20(19):3841-51. Epub 2011 Jul 12.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1093/hmg/ddr305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168292PMC
October 2011

A case of congenital axonal neuropathy associated with West syndrome.

Brain Dev 2011 Sep 5;33(8):692-6. Epub 2011 Jan 5.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2010.11.009DOI Listing
September 2011

Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.

Neuropathology 2011 Aug 26;31(4):455-7. Epub 2011 Apr 26.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo , Japan.

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http://dx.doi.org/10.1111/j.1440-1789.2011.01221.xDOI Listing
August 2011

Inflammatory changes in infantile-onset LMNA-associated myopathy.

Neuromuscul Disord 2011 Aug 31;21(8):563-8. Epub 2011 May 31.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Ogawa-Higashi, Kodaira, Tokyo, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661100120
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http://dx.doi.org/10.1016/j.nmd.2011.04.010DOI Listing
August 2011

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.

Neuromuscul Disord 2011 Jul 21;21(7):489-93. Epub 2011 Apr 21.

Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

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http://dx.doi.org/10.1016/j.nmd.2011.03.004DOI Listing
July 2011

TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.

Ann Neurol 2011 Jun 9;69(6):1005-13. Epub 2011 Mar 9.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1002/ana.22338DOI Listing
June 2011

Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest.

Pediatr Int 2011 Apr;53(2):159-61

Department of Pediatrics, Tokyo Medical University Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://doi.wiley.com/10.1111/j.1442-200X.2010.03211.x
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http://dx.doi.org/10.1111/j.1442-200X.2010.03211.xDOI Listing
April 2011

A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract.

J Neurol Sci 2011 Jan 29;300(1-2):179-81. Epub 2010 Sep 29.

Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Yumoto Akiumachi, Taihaku-ku, Sendai 982-0241, Japan.

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http://dx.doi.org/10.1016/j.jns.2010.09.009DOI Listing
January 2011

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

Ann Neurol 2010 Dec;68(6):845-54

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1002/ana.22111DOI Listing
December 2010

High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.

Acta Neuropathol 2010 Oct 3;120(4):537-43. Epub 2010 Aug 3.

Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Shinjuku-ku, Tokyo 162-8666, Japan.

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http://dx.doi.org/10.1007/s00401-010-0732-8DOI Listing
October 2010

Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Brain Dev 2010 Sep 26;32(8):669-72. Epub 2009 Sep 26.

Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

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http://dx.doi.org/10.1016/j.braindev.2009.08.008DOI Listing
September 2010

A case of intraneural perineurioma presenting with monomelic atrophy in a child.

Brain Dev 2010 Apr 9;32(4):338-41. Epub 2009 Dec 9.

Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), Masayuki Sasaki, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

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http://dx.doi.org/10.1016/j.braindev.2009.11.005DOI Listing
April 2010

Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: two sibling cases.

Brain Dev 2010 Apr 22;32(4):342-6. Epub 2009 Dec 22.

Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.

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http://dx.doi.org/10.1016/j.braindev.2009.11.006DOI Listing
April 2010

Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.

Acta Neuropathol 2010 Apr 24;119(4):481-6. Epub 2010 Feb 24.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1007/s00401-010-0660-7DOI Listing
April 2010

Delayed gyration with pontocerebellar hypoplasia type 1.

Brain Dev 2010 Mar 24;32(3):258-62. Epub 2009 Feb 24.

Department of Pediatrics, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.

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http://dx.doi.org/10.1016/j.braindev.2009.01.006DOI Listing
March 2010

Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped head.

Neuromuscul Disord 2009 Dec 20;19(12):853-5. Epub 2009 Sep 20.

Department of Neurology, Nara Medical University, Kashihara, Nara, Japan.

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http://dx.doi.org/10.1016/j.nmd.2009.08.006DOI Listing
December 2009

Distal myopathy in multi-minicore disease.

Intern Med 2009 1;48(19):1759-62. Epub 2009 Oct 1.

National Institute of Neuroscience, Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Tokyo.

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http://dx.doi.org/10.2169/internalmedicine.48.2425DOI Listing
December 2009

[Successful treatment of recurrent hypoglycemia by pioglitazone in a patient with myotonic dystrophy].

Rinsho Shinkeigaku 2009 Oct;49(10):641-5

Department of Neurology, National Center Hospital of Neurology and Psychiatry.

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http://dx.doi.org/10.5692/clinicalneurol.49.641DOI Listing
October 2009

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

J Clin Invest 2009 Sep 10;119(9):2623-33. Epub 2009 Aug 10.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1172/JCI38660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2735915PMC
September 2009

Autophagic degradation of nuclear components in mammalian cells.

Autophagy 2009 Aug 30;5(6):795-804. Epub 2009 Aug 30.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.4161/auto.8901DOI Listing
August 2009

Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.

Neuromuscul Disord 2009 Jul 23;19(7):485-8. Epub 2009 Jun 23.

Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2009.06.366DOI Listing
July 2009

A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI.

Brain Dev 2009 Jun 19;31(6):465-8. Epub 2008 Sep 19.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2008.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2702532PMC
June 2009

Distal myopathies a review: highlights on distal myopathies with rimmed vacuoles.

Neurol India 2008 Jul-Sep;56(3):314-24

Department of Neuromuscular Research, National Institutes of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan.

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June 2009

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.

Nat Med 2009 Jun;15(6):690-5

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1038/nm.1956DOI Listing
June 2009

Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.

J Neuropathol Exp Neurol 2009 Jun;68(6):701-7

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1097/NEN.0b013e3181a7f703DOI Listing
June 2009

Homozygous female Becker muscular dystrophy.

Am J Med Genet A 2009 May;149A(5):1052-5

Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.

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http://dx.doi.org/10.1002/ajmg.a.32808DOI Listing
May 2009

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

Mitochondrion 2009 Apr 21;9(2):115-22. Epub 2009 Jan 21.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.mito.2009.01.005DOI Listing
April 2009

Clinical and genetic analysis of lipid storage myopathies.

Muscle Nerve 2009 Mar;39(3):333-42

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, 187-8502 Tokyo, Japan.

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http://dx.doi.org/10.1002/mus.21167DOI Listing
March 2009

ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Neuromuscul Disord 2009 Mar 26;19(3):212-6. Epub 2009 Feb 26.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1016/j.nmd.2009.01.008DOI Listing
March 2009

Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.

Neuromuscul Disord 2009 Jan 12;19(1):29-36. Epub 2008 Dec 12.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, 187-8502 Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2008.09.018DOI Listing
January 2009

Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).

Neuromuscul Disord 2008 Dec 25;18(12):959-61. Epub 2008 Oct 25.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1016/j.nmd.2008.09.012DOI Listing
December 2008

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.

J Hum Genet 2008 15;53(7):598-606. Epub 2008 Apr 15.

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.

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http://dx.doi.org/10.1007/s10038-008-0289-8DOI Listing
September 2008

Essential role of satellite cells in the growth of rat soleus muscle fibers.

Am J Physiol Cell Physiol 2008 Aug 4;295(2):C458-67. Epub 2008 Jun 4.

Graduate School of Medicine, Osaka University, Osaka, Japan.

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http://dx.doi.org/10.1152/ajpcell.00497.2007DOI Listing
August 2008

Distal lipid storage myopathy due to PNPLA2 mutation.

Neuromuscul Disord 2008 Aug 26;18(8):671-4. Epub 2008 Jul 26.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://www.researchgate.net/profile/Ichizo_Nishino/publicati
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http://dx.doi.org/10.1016/j.nmd.2008.06.382DOI Listing
August 2008

Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle.

Neuromuscul Disord 2008 Jul 27;18(7):521-9. Epub 2008 May 27.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8502, Japan.

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July 2008

Selective vacuolar degeneration in dystrophin-deficient canine Purkinje fibers despite preservation of dystrophin-associated proteins with overexpression of Dp71.

Circulation 2008 May 5;117(19):2437-48. Epub 2008 May 5.

Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.107.739326DOI Listing
May 2008

Osteogenic properties of human myogenic progenitor cells.

Mech Dev 2008 Mar-Apr;125(3-4):257-69. Epub 2007 Nov 22.

Stem Cell Research Team, Mitsubishi Kagaku Institute of Life Sciences, 11 Minamiooya, Machida, Tokyo 194-8511, Japan.

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http://dx.doi.org/10.1016/j.mod.2007.11.004DOI Listing
April 2008

Mitochondrial encephalomyopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy.

Intern Med 2008 3;47(5):441-4. Epub 2008 Mar 3.

Department of Neurology, Nihon University Nerima Hikarigaoka Hospital, Tokyo.

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http://dx.doi.org/10.2169/internalmedicine.47.0579DOI Listing
March 2008

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Hum Mol Genet 2007 Nov 18;16(22):2669-82. Epub 2007 Aug 18.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1093/hmg/ddm220DOI Listing
November 2007

LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.

Intern Med 2007 1;46(11):757-60. Epub 2007 Jun 1.

Department of Neurology, National Hospital Organization, Miyazaki Higashi Hospital.

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http://dx.doi.org/10.2169/internalmedicine.46.6265DOI Listing
July 2007

Limb-girdle muscular dystrophy due to emerin gene mutations.

Arch Neurol 2007 Jul;64(7):1038-41

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1001/archneur.64.7.1038DOI Listing
July 2007

The pathogenesis of ACTA1-related congenital fiber type disproportion.

Ann Neurol 2007 Jun;61(6):552-61

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ana.21112DOI Listing
June 2007

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.

Brain Dev 2007 May 20;29(4):234-8. Epub 2006 Oct 20.

Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

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http://dx.doi.org/10.1016/j.braindev.2006.09.006DOI Listing
May 2007

Unfolded protein response and aggresome formation in hereditary reducing-body myopathy.

Muscle Nerve 2007 Mar;35(3):322-6

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan.

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http://dx.doi.org/10.1002/mus.20691DOI Listing
March 2007

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Hum Mol Genet 2007 Jan 12;16(2):115-28. Epub 2006 Dec 12.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan.

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http://academic.oup.com/hmg/article/16/2/115/2355939/A-Gne-k
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http://dx.doi.org/10.1093/hmg/ddl446DOI Listing
January 2007