Publications by authors named "Satoru Noguchi"

100Publications

Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy.

J Biol Chem 2020 Nov 13. Epub 2020 Nov 13.

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

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http://dx.doi.org/10.1074/jbc.RA120.015184DOI Listing
November 2020

Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.

J Neuropathol Exp Neurol 2020 Nov 13. Epub 2020 Nov 13.

From the Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan (MO, MO, IN, SH, SN, IN); Department of Genome Medicine Development, Medical Genome Center, NCNP, Kodaira, Japan (MO, SH, SN, IN); and Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan (MO).

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http://dx.doi.org/10.1093/jnen/nlaa104DOI Listing
November 2020

Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES.

Neuromuscul Disord 2020 08 13;30(8):674-679. Epub 2020 Jun 13.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan; Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2020.06.004DOI Listing
August 2020

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.

Neurology 2020 09 9;95(11):e1500-e1511. Epub 2020 Jul 9.

From the Department of Neuromuscular Research, National Institute of Neuroscience (Y.S., A.N., S.H., I. Nonaka, S. Noguchi and I. Nishino), Medical Genome Center (Y.S., A. Iida, S.H., S.N., I. Nishino), and Departments of Neurology (M.M.-Y., Y.O.) and Child Neurology (A. Ishiyama and H.K.), National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo; Integrated Graduate School of Medicine, Engineering, and Agricultural Science (Y.S.), University of Yamanashi; Department of Neurology (S. Nakamura), National Hospital Organization, Shizuoka Medical Center; Department of Neurology and Clinical Neuroscience (S.F. and T.K.), Yamaguchi University Graduate School of Medical Science; Department of Neurology (M.Y. and H.S.), Osaka Toneyama Medical Center; and Department of Neurology (H.S.), Osaka University Graduate School of Medicine, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000010237DOI Listing
September 2020

Homozygous nonsense variant in associated with facioscapulohumeral muscular dystrophy.

Neurology 2020 06 28;94(23):e2441-e2447. Epub 2020 May 28.

From the Department of Neuromuscular Research (K.H., S.M., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neurology (K.H.), Graduate School of Medicine, Kyoto University, Japan; Department of Human Genetics (D.Š., R.J.L.F.L., R.G., J.B., S.M.M.), Leiden University Medical Center, the Netherlands; Department of Clinical Development (S.M., I.N.), Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo; Department of Neurology (H.M., Y.S., A.S., K.S., S.K.), Graduate School of Medicine, Chiba University; Department of Biological Sciences (K.N., C.O.), Graduate School of Science, Osaka University; and Department of Pathophysiology (Y.K.H.), Tokyo Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000009617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455367PMC
June 2020

Mutations in the J domain of DNAJB6 cause dominant distal myopathy.

Neuromuscul Disord 2020 01 19;30(1):38-46. Epub 2019 Nov 19.

Neuromuscular Research Center, Tampere University Hospital and Tampere University, P.O. box 100, FIN-33014 Tampere, Finland; Folkhälsan Research Center, Helsinki, Finland and University of Helsinki, Medicum, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2019.11.005DOI Listing
January 2020

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Hum Genet 2020 Feb 9;139(2):247-255. Epub 2020 Jan 9.

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/s00439-019-02107-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981323PMC
February 2020

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

Ann Neurol 2019 08 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

Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation.

Brain Dev 2019 May 4;41(5):470-473. Epub 2019 Mar 4.

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/10.1016/j.braindev.2018.12.002DOI Listing
May 2019

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.

J Neurol Sci 2018 12 16;395:169-171. Epub 2018 Oct 16.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022510X183042
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http://dx.doi.org/10.1016/j.jns.2018.10.015DOI Listing
December 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

Quantification of lectin fluorescence in GNE myopathy muscle biopsies.

Muscle Nerve 2018 Aug 23;58(2):286-292. Epub 2018 Apr 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bld. 10, Room 10C103 Bethesda, Maryland, 20892, USA.

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http://dx.doi.org/10.1002/mus.26135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105422PMC
August 2018

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency.

Sci Rep 2018 02 20;8(1):3326. Epub 2018 Feb 20.

Second Department of Internal Medicine, Kansai Medical University, Hirakata, Osaka, Japan.

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http://dx.doi.org/10.1038/s41598-018-21602-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820257PMC
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

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

Orphanet J Rare Dis 2017 08 31;12(1):149. Epub 2017 Aug 31.

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

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http://dx.doi.org/10.1186/s13023-017-0703-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580216PMC
August 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

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

Calcium Dyshomeostasis in Tubular Aggregate Myopathy.

Int J Mol Sci 2016 Nov 22;17(11). Epub 2016 Nov 22.

Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Neuropsychiatry, Kodaira, Tokyo 187-8551, Japan.

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http://dx.doi.org/10.3390/ijms17111952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946PMC
November 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

Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308].

Neuromuscul Disord 2016 Jul;26(7):472

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

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http://dx.doi.org/10.1016/j.nmd.2016.05.015DOI Listing
July 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

Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.

Neuromuscul Disord 2016 Apr-May;26(4-5):300-8. Epub 2016 Mar 15.

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

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http://dx.doi.org/10.1016/j.nmd.2016.03.001DOI Listing
January 2017

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.

J Hum Genet 2016 Jun 25;61(6):483-9. Epub 2016 Feb 25.

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

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http://dx.doi.org/10.1038/jhg.2016.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4931045PMC
June 2016

Muscle from a 20-week-old myotubular myopathy fetus is not myotubular.

Neuromuscul Disord 2016 Mar 3;26(3):234-5. Epub 2015 Dec 3.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8502, Japan; Department of Clinical Development, Medical Genome Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo 187-8551, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2015.11.010DOI 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

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.

Skelet Muscle 2015 28;5:29. Epub 2015 Aug 28.

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/s13395-015-0056-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551700PMC
August 2015

Plasma IP-10 level distinguishes inflammatory myopathy.

Neurology 2015 Jul 1;85(3):293-4. Epub 2015 Jul 1.

From the Translational Medical Center (A.U., S.N., S.M., I.N.) and the National Institute of Neuroscience (A.U., S.N., W.S., H.N., S.M., T.Y., I.N.), National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000001767DOI Listing
July 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

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

Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.

Genes Cells 2014 Nov 24;19(11):830-41. Epub 2014 Sep 24.

Animal Products Research Division, NARO Institute of Livestock and Grassland Science, 2 Ikenodai, Tsukuba, Ibaraki, 305-0901, Japan; Calpain Project, Department of Advanced Science for Biomolecules, Tokyo Metropolitan Institute of Medical Science, 2-1-6 Kamikitazawa, Setagaya-ku, Tokyo, 156-8506, Japan.

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http://dx.doi.org/10.1111/gtc.12181DOI 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

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.

Mol Ther Nucleic Acids 2014 Jun 24;3:e171. Epub 2014 Jun 24.

1] Department of Neuromuscular Research, National Institute of Neuroscience, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan [2] Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1038/mtna.2014.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078762PMC
June 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

GNE myopathy: new name and new mutation nomenclature.

Neuromuscul Disord 2014 May 13;24(5):387-9. Epub 2014 Mar 13.

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.nmd.2014.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015343PMC
May 2014

GNE myopathy: a prospective natural history study of disease progression.

Neuromuscul Disord 2014 May 28;24(5):380-6. Epub 2014 Feb 28.

Department of 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.2014.02.008DOI Listing
May 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

Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles.

Amyloid 2014 Jun 7;21(2):138-9. Epub 2014 Mar 7.

Department of Pathology, Faculty of Medicine, University of Malaya , Kuala Lumpur , Malaysia .

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http://dx.doi.org/10.3109/13506129.2014.889675DOI Listing
June 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

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

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

[Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)].

Rinsho Shinkeigaku 2012 ;52(11):1210-2

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

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http://dx.doi.org/10.5692/clinicalneurol.52.1210DOI Listing
April 2014

Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).

Neuromuscul Disord 2013 Jan 2;23(1):84-8. Epub 2012 Nov 2.

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/10.1016/j.nmd.2012.09.007DOI Listing
January 2013

Guidelines for the use and interpretation of assays for monitoring autophagy.

Authors:
Daniel J Klionsky Fabio C Abdalla Hagai Abeliovich Robert T Abraham Abraham Acevedo-Arozena Khosrow Adeli Lotta Agholme Maria Agnello Patrizia Agostinis Julio A Aguirre-Ghiso Hyung Jun Ahn Ouardia Ait-Mohamed Slimane Ait-Si-Ali Takahiko Akematsu Shizuo Akira Hesham M Al-Younes Munir A Al-Zeer Matthew L Albert Roger L Albin Javier Alegre-Abarrategui Maria Francesca Aleo Mehrdad Alirezaei Alexandru Almasan Maylin Almonte-Becerril Atsuo Amano Ravi Amaravadi Shoba Amarnath Amal O Amer Nathalie Andrieu-Abadie Vellareddy Anantharam David K Ann Shailendra Anoopkumar-Dukie Hiroshi Aoki Nadezda Apostolova Giuseppe Arancia John P Aris Katsuhiko Asanuma Nana Y O Asare Hisashi Ashida Valerie Askanas David S Askew Patrick Auberger Misuzu Baba Steven K Backues Eric H Baehrecke Ben A Bahr Xue-Yuan Bai Yannick Bailly Robert Baiocchi Giulia Baldini Walter Balduini Andrea Ballabio Bruce A Bamber Edward T W Bampton Gábor Bánhegyi Clinton R Bartholomew Diane C Bassham Robert C Bast Henri Batoko Boon-Huat Bay Isabelle Beau Daniel M Béchet Thomas J Begley Christian Behl Christian Behrends Soumeya Bekri Bryan Bellaire Linda J Bendall Luca Benetti Laura Berliocchi Henri Bernardi Francesca Bernassola Sébastien Besteiro Ingrid Bhatia-Kissova Xiaoning Bi Martine Biard-Piechaczyk Janice S Blum Lawrence H Boise Paolo Bonaldo David L Boone Beat C Bornhauser Karina R Bortoluci Ioannis Bossis Frédéric Bost Jean-Pierre Bourquin Patricia Boya Michaël Boyer-Guittaut Peter V Bozhkov Nathan R Brady Claudio Brancolini Andreas Brech Jay E Brenman Ana Brennand Emery H Bresnick Patrick Brest Dave Bridges Molly L Bristol Paul S Brookes Eric J Brown John H Brumell Nicola Brunetti-Pierri Ulf T Brunk Dennis E Bulman Scott J Bultman Geert Bultynck Lena F Burbulla Wilfried Bursch Jonathan P Butchar Wanda Buzgariu Sergio P Bydlowski Ken Cadwell Monika Cahová Dongsheng Cai Jiyang Cai Qian Cai Bruno Calabretta Javier Calvo-Garrido Nadine Camougrand Michelangelo Campanella Jenny Campos-Salinas Eleonora Candi Lizhi Cao Allan B Caplan Simon R Carding Sandra M Cardoso Jennifer S Carew Cathleen R Carlin Virginie Carmignac Leticia A M Carneiro Serena Carra Rosario A Caruso Giorgio Casari Caty Casas Roberta Castino Eduardo Cebollero Francesco Cecconi Jean Celli Hassan Chaachouay Han-Jung Chae Chee-Yin Chai David C Chan Edmond Y Chan Raymond Chuen-Chung Chang Chi-Ming Che Ching-Chow Chen Guang-Chao Chen Guo-Qiang Chen Min Chen Quan Chen Steve S-L Chen WenLi Chen Xi Chen Xiangmei Chen Xiequn Chen Ye-Guang Chen Yingyu Chen Yongqiang Chen Yu-Jen Chen Zhixiang Chen Alan Cheng Christopher H K Cheng Yan Cheng Heesun Cheong Jae-Ho Cheong Sara Cherry Russ Chess-Williams Zelda H Cheung Eric Chevet Hui-Ling Chiang Roberto Chiarelli Tomoki Chiba Lih-Shen Chin Shih-Hwa Chiou Francis V Chisari Chi Hin Cho Dong-Hyung Cho Augustine M K Choi DooSeok Choi Kyeong Sook Choi Mary E Choi Salem Chouaib Divaker Choubey Vinay Choubey Charleen T Chu Tsung-Hsien Chuang Sheau-Huei Chueh Taehoon Chun Yong-Joon Chwae Mee-Len Chye Roberto Ciarcia Maria R Ciriolo Michael J Clague Robert S B Clark Peter G H Clarke Robert Clarke Patrice Codogno Hilary A Coller María I Colombo Sergio Comincini Maria Condello Fabrizio Condorelli Mark R Cookson Graham H Coombs Isabelle Coppens Ramon Corbalan Pascale Cossart Paola Costelli Safia Costes Ana Coto-Montes Eduardo Couve Fraser P Coxon James M Cregg José L Crespo Marianne J Cronjé Ana Maria Cuervo Joseph J Cullen Mark J Czaja Marcello D'Amelio Arlette Darfeuille-Michaud Lester M Davids Faith E Davies Massimo De Felici John F de Groot Cornelis A M de Haan Luisa De Martino Angelo De Milito Vincenzo De Tata Jayanta Debnath Alexei Degterev Benjamin Dehay Lea M D Delbridge Francesca Demarchi Yi Zhen Deng Jörn Dengjel Paul Dent Donna Denton Vojo Deretic Shyamal D Desai Rodney J Devenish Mario Di Gioacchino Gilbert Di Paolo Chiara Di Pietro Guillermo Díaz-Araya Inés Díaz-Laviada Maria T Diaz-Meco Javier Diaz-Nido Ivan Dikic Savithramma P Dinesh-Kumar Wen-Xing Ding Clark W Distelhorst Abhinav Diwan Mojgan Djavaheri-Mergny Svetlana Dokudovskaya Zheng Dong Frank C Dorsey Victor Dosenko James J Dowling Stephen Doxsey Marlène Dreux Mark E Drew Qiuhong Duan Michel A Duchosal Karen Duff Isabelle Dugail Madeleine Durbeej Michael Duszenko Charles L Edelstein Aimee L Edinger Gustavo Egea Ludwig Eichinger N Tony Eissa Suhendan Ekmekcioglu Wafik S El-Deiry Zvulun Elazar Mohamed Elgendy Lisa M Ellerby Kai Er Eng Anna-Mart Engelbrecht Simone Engelender Jekaterina Erenpreisa Ricardo Escalante Audrey Esclatine Eeva-Liisa Eskelinen Lucile Espert Virginia Espina Huizhou Fan Jia Fan Qi-Wen Fan Zhen Fan Shengyun Fang Yongqi Fang Manolis Fanto Alessandro Fanzani Thomas Farkas Jean-Claude Farré Mathias Faure Marcus Fechheimer Carl G Feng Jian Feng Qili Feng Youji Feng László Fésüs Ralph Feuer Maria E Figueiredo-Pereira Gian Maria Fimia Diane C Fingar Steven Finkbeiner Toren Finkel Kim D Finley Filomena Fiorito Edward A Fisher Paul B Fisher Marc Flajolet Maria L Florez-McClure Salvatore Florio Edward A Fon Francesco Fornai Franco Fortunato Rati Fotedar Daniel H Fowler Howard S Fox Rodrigo Franco Lisa B Frankel Marc Fransen José M Fuentes Juan Fueyo Jun Fujii Kozo Fujisaki Eriko Fujita Mitsunori Fukuda Ruth H Furukawa Matthias Gaestel Philippe Gailly Malgorzata Gajewska Brigitte Galliot Vincent Galy Subramaniam Ganesh Barry Ganetzky Ian G Ganley Fen-Biao Gao George F Gao Jinming Gao Lorena Garcia Guillermo Garcia-Manero Mikel Garcia-Marcos Marjan Garmyn Andrei L Gartel Evelina Gatti Mathias Gautel Thomas R Gawriluk Matthew E Gegg Jiefei Geng Marc Germain Jason E Gestwicki David A Gewirtz Saeid Ghavami Pradipta Ghosh Anna M Giammarioli Alexandra N Giatromanolaki Spencer B Gibson Robert W Gilkerson Michael L Ginger Henry N Ginsberg Jakub Golab Michael S Goligorsky Pierre Golstein Candelaria Gomez-Manzano Ebru Goncu Céline Gongora Claudio D Gonzalez Ramon Gonzalez Cristina González-Estévez Rosa Ana González-Polo Elena Gonzalez-Rey Nikolai V Gorbunov Sharon Gorski Sandro Goruppi Roberta A Gottlieb Devrim Gozuacik Giovanna Elvira Granato Gary D Grant Kim N Green Aleš Gregorc Frédéric Gros Charles Grose Thomas W Grunt Philippe Gual Jun-Lin Guan Kun-Liang Guan Sylvie M Guichard Anna S Gukovskaya Ilya Gukovsky Jan Gunst Asa B Gustafsson Andrew J Halayko Amber N Hale Sandra K Halonen Maho Hamasaki Feng Han Ting Han Michael K Hancock Malene Hansen Hisashi Harada Masaru Harada Stefan E Hardt J Wade Harper Adrian L Harris James Harris Steven D Harris Makoto Hashimoto Jeffrey A Haspel Shin-ichiro Hayashi Lori A Hazelhurst Congcong He You-Wen He Marie-Joseé Hébert Kim A Heidenreich Miep H Helfrich Gudmundur V Helgason Elizabeth P Henske Brian Herman Paul K Herman Claudio Hetz Sabine Hilfiker Joseph A Hill Lynne J Hocking Paul Hofman Thomas G Hofmann Jörg Höhfeld Tessa L Holyoake Ming-Huang Hong David A Hood Gökhan S Hotamisligil Ewout J Houwerzijl Maria Høyer-Hansen Bingren Hu Chien-An A Hu Hong-Ming Hu Ya Hua Canhua Huang Ju Huang Shengbing Huang Wei-Pang Huang Tobias B Huber Won-Ki Huh Tai-Ho Hung Ted R Hupp Gang Min Hur James B Hurley Sabah N A Hussain Patrick J Hussey Jung Jin Hwang Seungmin Hwang Atsuhiro Ichihara Shirin Ilkhanizadeh Ken Inoki Takeshi Into Valentina Iovane Juan L Iovanna Nancy Y Ip Yoshitaka Isaka Hiroyuki Ishida Ciro Isidoro Ken-ichi Isobe Akiko Iwasaki Marta Izquierdo Yotaro Izumi Panu M Jaakkola Marja Jäättelä George R Jackson William T Jackson Bassam Janji Marina Jendrach Ju-Hong Jeon Eui-Bae Jeung Hong Jiang Hongchi Jiang Jean X Jiang Ming Jiang Qing Jiang Xuejun Jiang Xuejun Jiang Alberto Jiménez Meiyan Jin Shengkan Jin Cheol O Joe Terje Johansen Daniel E Johnson Gail V W Johnson Nicola L Jones Bertrand Joseph Suresh K Joseph Annie M Joubert Gábor Juhász Lucienne Juillerat-Jeanneret Chang Hwa Jung Yong-Keun Jung Kai Kaarniranta Allen Kaasik Tomohiro Kabuta Motoni Kadowaki Katarina Kagedal Yoshiaki Kamada Vitaliy O Kaminskyy Harm H Kampinga Hiromitsu Kanamori Chanhee Kang Khong Bee Kang Kwang Il Kang Rui Kang Yoon-A Kang Tomotake Kanki Thirumala-Devi Kanneganti Haruo Kanno Anumantha G Kanthasamy Arthi Kanthasamy Vassiliki Karantza Gur P Kaushal Susmita Kaushik Yoshinori Kawazoe Po-Yuan Ke John H Kehrl Ameeta Kelekar Claus Kerkhoff David H Kessel Hany Khalil Jan A K W Kiel Amy A Kiger Akio Kihara Deok Ryong Kim Do-Hyung Kim Dong-Hou Kim Eun-Kyoung Kim Hyung-Ryong Kim Jae-Sung Kim Jeong Hun Kim Jin Cheon Kim John K Kim Peter K Kim Seong Who Kim Yong-Sun Kim Yonghyun Kim Adi Kimchi Alec C Kimmelman Jason S King Timothy J Kinsella Vladimir Kirkin Lorrie A Kirshenbaum Katsuhiko Kitamoto Kaio Kitazato Ludger Klein Walter T Klimecki Jochen Klucken Erwin Knecht Ben C B Ko Jan C Koch Hiroshi Koga Jae-Young Koh Young Ho Koh Masato Koike Masaaki Komatsu Eiki Kominami Hee Jeong Kong Wei-Jia Kong Viktor I Korolchuk Yaichiro Kotake Michael I Koukourakis Juan B Kouri Flores Attila L Kovács Claudine Kraft Dimitri Krainc Helmut Krämer Carole Kretz-Remy Anna M Krichevsky Guido Kroemer Rejko Krüger Oleg Krut Nicholas T Ktistakis Chia-Yi Kuan Roza Kucharczyk Ashok Kumar Raj Kumar Sharad Kumar Mondira Kundu Hsing-Jien Kung Tino Kurz Ho Jeong Kwon Albert R La Spada Frank Lafont Trond Lamark Jacques Landry Jon D Lane Pierre Lapaquette Jocelyn F Laporte Lajos László Sergio Lavandero Josée N Lavoie Robert Layfield Pedro A Lazo Weidong Le Laurent Le Cam Daniel J Ledbetter Alvin J X Lee Byung-Wan Lee Gyun Min Lee Jongdae Lee Ju-Hyun Lee Michael Lee Myung-Shik Lee Sug Hyung Lee Christiaan Leeuwenburgh Patrick Legembre Renaud Legouis Michael Lehmann Huan-Yao Lei Qun-Ying Lei David A Leib José Leiro John J Lemasters Antoinette Lemoine Maciej S Lesniak Dina Lev Victor V Levenson Beth Levine Efrat Levy Faqiang Li Jun-Lin Li Lian Li Sheng Li Weijie Li Xue-Jun Li Yan-bo Li Yi-Ping Li Chengyu Liang Qiangrong Liang Yung-Feng Liao Pawel P Liberski Andrew Lieberman Hyunjung J Lim Kah-Leong Lim Kyu Lim Chiou-Feng Lin Fu-Cheng Lin Jian Lin Jiandie D Lin Kui Lin Wan-Wan Lin Weei-Chin Lin Yi-Ling Lin Rafael Linden Paul Lingor Jennifer Lippincott-Schwartz Michael P Lisanti Paloma B Liton Bo Liu Chun-Feng Liu Kaiyu Liu Leyuan Liu Qiong A Liu Wei Liu Young-Chau Liu Yule Liu Richard A Lockshin Chun-Nam Lok Sagar Lonial Benjamin Loos Gabriel Lopez-Berestein Carlos López-Otín Laura Lossi Michael T Lotze Peter Lőw Binfeng Lu Bingwei Lu Bo Lu Zhen Lu Frédéric Luciano Nicholas W Lukacs Anders H Lund Melinda A Lynch-Day Yong Ma Fernando Macian Jeff P MacKeigan Kay F Macleod Frank Madeo Luigi Maiuri Maria Chiara Maiuri Davide Malagoli May Christine V Malicdan Walter Malorni Na Man Eva-Maria Mandelkow Stéphen Manon Irena Manov Kai Mao Xiang Mao Zixu Mao Philippe Marambaud Daniela Marazziti Yves L Marcel Katie Marchbank Piero Marchetti Stefan J Marciniak Mateus Marcondes Mohsen Mardi Gabriella Marfe Guillermo Mariño Maria Markaki Mark R Marten Seamus J Martin Camille Martinand-Mari Wim Martinet Marta Martinez-Vicente Matilde Masini Paola Matarrese Saburo Matsuo Raffaele Matteoni Andreas Mayer Nathalie M Mazure David J McConkey Melanie J McConnell Catherine McDermott Christine McDonald Gerald M McInerney Sharon L McKenna BethAnn McLaughlin Pamela J McLean Christopher R McMaster G Angus McQuibban Alfred J Meijer Miriam H Meisler Alicia Meléndez Thomas J Melia Gerry Melino Maria A Mena Javier A Menendez Rubem F S Menna-Barreto Manoj B Menon Fiona M Menzies Carol A Mercer Adalberto Merighi Diane E Merry Stefania Meschini Christian G Meyer Thomas F Meyer Chao-Yu Miao Jun-Ying Miao Paul A M Michels Carine Michiels Dalibor Mijaljica Ana Milojkovic Saverio Minucci Clelia Miracco Cindy K Miranti Ioannis Mitroulis Keisuke Miyazawa Noboru Mizushima Baharia Mograbi Simin Mohseni Xavier Molero Bertrand Mollereau Faustino Mollinedo Takashi Momoi Iryna Monastyrska Martha M Monick Mervyn J Monteiro Michael N Moore Rodrigo Mora Kevin Moreau Paula I Moreira Yuji Moriyasu Jorge Moscat Serge Mostowy Jeremy C Mottram Tomasz Motyl Charbel E-H Moussa Sylke Müller Sylviane Muller Karl Münger Christian Münz Leon O Murphy Maureen E Murphy Antonio Musarò Indira Mysorekar Eiichiro Nagata Kazuhiro Nagata Aimable Nahimana Usha Nair Toshiyuki Nakagawa Kiichi Nakahira Hiroyasu Nakano Hitoshi Nakatogawa Meera Nanjundan Naweed I Naqvi Derek P Narendra Masashi Narita Miguel Navarro Steffan T Nawrocki Taras Y Nazarko Andriy Nemchenko Mihai G Netea Thomas P Neufeld Paul A Ney Ioannis P Nezis Huu Phuc Nguyen Daotai Nie Ichizo Nishino Corey Nislow Ralph A Nixon Takeshi Noda Angelika A Noegel Anna Nogalska Satoru Noguchi Lucia Notterpek Ivana Novak Tomoyoshi Nozaki Nobuyuki Nukina Thorsten Nürnberger Beat Nyfeler Keisuke Obara Terry D Oberley Salvatore Oddo Michinaga Ogawa Toya Ohashi Koji Okamoto Nancy L Oleinick F Javier Oliver Laura J Olsen Stefan Olsson Onya Opota Timothy F Osborne Gary K Ostrander Kinya Otsu Jing-hsiung James Ou Mireille Ouimet Michael Overholtzer Bulent Ozpolat Paolo Paganetti Ugo Pagnini Nicolas Pallet Glen E Palmer Camilla Palumbo Tianhong Pan Theocharis Panaretakis Udai Bhan Pandey Zuzana Papackova Issidora Papassideri Irmgard Paris Junsoo Park Ohkmae K Park Jan B Parys Katherine R Parzych Susann Patschan Cam Patterson Sophie Pattingre John M Pawelek Jianxin Peng David H Perlmutter Ida Perrotta George Perry Shazib Pervaiz Matthias Peter Godefridus J Peters Morten Petersen Goran Petrovski James M Phang Mauro Piacentini Philippe Pierre Valérie Pierrefite-Carle Gérard Pierron Ronit Pinkas-Kramarski Antonio Piras Natik Piri Leonidas C Platanias Stefanie Pöggeler Marc Poirot Angelo Poletti Christian Poüs Mercedes Pozuelo-Rubio Mette Prætorius-Ibba Anil Prasad Mark Prescott Muriel Priault Nathalie Produit-Zengaffinen Ann Progulske-Fox Tassula Proikas-Cezanne Serge Przedborski Karin Przyklenk Rosa Puertollano Julien Puyal Shu-Bing Qian Liang Qin Zheng-Hong Qin Susan E Quaggin Nina Raben Hannah Rabinowich Simon W Rabkin Irfan Rahman Abdelhaq Rami Georg Ramm Glenn Randall Felix Randow V Ashutosh Rao Jeffrey C Rathmell Brinda Ravikumar Swapan K Ray Bruce H Reed John C Reed Fulvio Reggiori Anne Régnier-Vigouroux Andreas S Reichert John J Reiners Russel J Reiter Jun Ren José L Revuelta Christopher J Rhodes Konstantinos Ritis Elizete Rizzo Jeffrey Robbins Michel Roberge Hernan Roca Maria C Roccheri Stephane Rocchi H Peter Rodemann Santiago Rodríguez de Córdoba Bärbel Rohrer Igor B Roninson Kirill Rosen Magdalena M Rost-Roszkowska Mustapha Rouis Kasper M A Rouschop Francesca Rovetta Brian P Rubin David C Rubinsztein Klaus Ruckdeschel Edmund B Rucker Assaf Rudich Emil Rudolf Nelson Ruiz-Opazo Rossella Russo Tor Erik Rusten Kevin M Ryan Stefan W Ryter David M Sabatini Junichi Sadoshima Tapas Saha Tatsuya Saitoh Hiroshi Sakagami Yasuyoshi Sakai Ghasem Hoseini Salekdeh Paolo Salomoni Paul M Salvaterra Guy Salvesen Rosa Salvioli Anthony M J Sanchez José A Sánchez-Alcázar Ricardo Sánchez-Prieto Marco Sandri Uma Sankar Poonam Sansanwal Laura Santambrogio Shweta Saran Sovan Sarkar Minnie Sarwal Chihiro Sasakawa Ausra Sasnauskiene Miklós Sass Ken Sato Miyuki Sato Anthony H V Schapira Michael Scharl Hermann M Schätzl Wiep Scheper Stefano Schiaffino Claudio Schneider Marion E Schneider Regine Schneider-Stock Patricia V Schoenlein Daniel F Schorderet Christoph Schüller Gary K Schwartz Luca Scorrano Linda Sealy Per O Seglen Juan Segura-Aguilar Iban Seiliez Oleksandr Seleverstov Christian Sell Jong Bok Seo Duska Separovic Vijayasaradhi Setaluri Takao Setoguchi Carmine Settembre John J Shacka Mala Shanmugam Irving M Shapiro Eitan Shaulian Reuben J Shaw James H Shelhamer Han-Ming Shen Wei-Chiang Shen Zu-Hang Sheng Yang Shi Kenichi Shibuya Yoshihiro Shidoji Jeng-Jer Shieh Chwen-Ming Shih Yohta Shimada Shigeomi Shimizu Takahiro Shintani Orian S Shirihai Gordon C Shore Andriy A Sibirny Stan B Sidhu Beata Sikorska Elaine C M Silva-Zacarin Alison Simmons Anna Katharina Simon Hans-Uwe Simon Cristiano Simone Anne Simonsen David A Sinclair Rajat Singh Debasish Sinha Frank A Sinicrope Agnieszka Sirko Parco M Siu Efthimios Sivridis Vojtech Skop Vladimir P Skulachev Ruth S Slack Soraya S Smaili Duncan R Smith Maria S Soengas Thierry Soldati Xueqin Song Anil K Sood Tuck Wah Soong Federica Sotgia Stephen A Spector Claudia D Spies Wolfdieter Springer Srinivasa M Srinivasula Leonidas Stefanis Joan S Steffan Ruediger Stendel Harald Stenmark Anastasis Stephanou Stephan T Stern Cinthya Sternberg Björn Stork Peter Strålfors Carlos S Subauste Xinbing Sui David Sulzer Jiaren Sun Shi-Yong Sun Zhi-Jun Sun Joseph J Y Sung Kuninori Suzuki Toshihiko Suzuki Michele S Swanson Charles Swanton Sean T Sweeney Lai-King Sy Gyorgy Szabadkai Ira Tabas Heinrich Taegtmeyer Marco Tafani Krisztina Takács-Vellai Yoshitaka Takano Kaoru Takegawa Genzou Takemura Fumihiko Takeshita Nicholas J Talbot Kevin S W Tan Keiji Tanaka Kozo Tanaka Daolin Tang Dingzhong Tang Isei Tanida Bakhos A Tannous Nektarios Tavernarakis Graham S Taylor Gregory A Taylor J Paul Taylor Lance S Terada Alexei Terman Gianluca Tettamanti Karin Thevissen Craig B Thompson Andrew Thorburn Michael Thumm FengFeng Tian Yuan Tian Glauco Tocchini-Valentini Aviva M Tolkovsky Yasuhiko Tomino Lars Tönges Sharon A Tooze Cathy Tournier John Tower Roberto Towns Vladimir Trajkovic Leonardo H Travassos Ting-Fen Tsai Mario P Tschan Takeshi Tsubata Allan Tsung Boris Turk Lorianne S Turner Suresh C Tyagi Yasuo Uchiyama Takashi Ueno Midori Umekawa Rika Umemiya-Shirafuji Vivek K Unni Maria I Vaccaro Enza Maria Valente Greet Van den Berghe Ida J van der Klei Wouter van Doorn Linda F van Dyk Marjolein van Egmond Leo A van Grunsven Peter Vandenabeele Wim P Vandenberghe Ilse Vanhorebeek Eva C Vaquero Guillermo Velasco Tibor Vellai Jose Miguel Vicencio Richard D Vierstra Miquel Vila Cécile Vindis Giampietro Viola Maria Teresa Viscomi Olga V Voitsekhovskaja Clarissa von Haefen Marcela Votruba Keiji Wada Richard Wade-Martins Cheryl L Walker Craig M Walsh Jochen Walter Xiang-Bo Wan Aimin Wang Chenguang Wang Dawei Wang Fan Wang Fen Wang Guanghui Wang Haichao Wang Hong-Gang Wang Horng-Dar Wang Jin Wang Ke Wang Mei Wang Richard C Wang Xinglong Wang Xuejun Wang Ying-Jan Wang Yipeng Wang Zhen Wang Zhigang Charles Wang Zhinong Wang Derick G Wansink Diane M Ward Hirotaka Watada Sarah L Waters Paul Webster Lixin Wei Conrad C Weihl William A Weiss Scott M Welford Long-Ping Wen Caroline A Whitehouse J Lindsay Whitton Alexander J Whitworth Tom Wileman John W Wiley Simon Wilkinson Dieter Willbold Roger L Williams Peter R Williamson Bradly G Wouters Chenghan Wu Dao-Cheng Wu William K K Wu Andreas Wyttenbach Ramnik J Xavier Zhijun Xi Pu Xia Gengfu Xiao Zhiping Xie Zhonglin Xie Da-zhi Xu Jianzhen Xu Liang Xu Xiaolei Xu Ai Yamamoto Akitsugu Yamamoto Shunhei Yamashina Michiaki Yamashita Xianghua Yan Mitsuhiro Yanagida Dun-Sheng Yang Elizabeth Yang Jin-Ming Yang Shi Yu Yang Wannian Yang Wei Yuan Yang Zhifen Yang Meng-Chao Yao Tso-Pang Yao Behzad Yeganeh Wei-Lien Yen Jia-jing Yin Xiao-Ming Yin Ook-Joon Yoo Gyesoon Yoon Seung-Yong Yoon Tomohiro Yorimitsu Yuko Yoshikawa Tamotsu Yoshimori Kohki Yoshimoto Ho Jin You Richard J Youle Anas Younes Li Yu Long Yu Seong-Woon Yu Wai Haung Yu Zhi-Min Yuan Zhenyu Yue Cheol-Heui Yun Michisuke Yuzaki Olga Zabirnyk Elaine Silva-Zacarin David Zacks Eldad Zacksenhaus Nadia Zaffaroni Zahra Zakeri Herbert J Zeh Scott O Zeitlin Hong Zhang Hui-Ling Zhang Jianhua Zhang Jing-Pu Zhang Lin Zhang Long Zhang Ming-Yong Zhang Xu Dong Zhang Mantong Zhao Yi-Fang Zhao Ying Zhao Zhizhuang J Zhao Xiaoxiang Zheng Boris Zhivotovsky Qing Zhong Cong-Zhao Zhou Changlian Zhu Wei-Guo Zhu Xiao-Feng Zhu Xiongwei Zhu Yuangang Zhu Teresa Zoladek Wei-Xing Zong Antonio Zorzano Jürgen Zschocke Brian Zuckerbraun

Autophagy 2012 Apr;8(4):445-544

Life Sciences Institute, University of Michigan, Ann Arbor, MI, USA.

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April 2012

[Sialic Acid supplementation therapy for distal myopathy with rimmed vacuoles].

Brain Nerve 2012 Mar;64(3):255-61

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

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March 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

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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January 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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January 2012

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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October 2011

[Sialic acid-deficient myopathy].

Authors:
Satoru Noguchi

Seikagaku 2011 Apr;83(4):316-20

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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April 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

A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.

Ther Adv Neurol Disord 2010 Mar;3(2):127-35

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

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March 2010

Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.

J Cell Sci 2010 Nov 27;123(Pt 22):3893-900. Epub 2010 Oct 27.

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/10.1242/jcs.072157DOI Listing
November 2010

[Animal model of distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy and preclinical trial with sugar compounds].

Brain Nerve 2010 Jun;62(6):601-7

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

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June 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

[Development of therapy for distal myopathy with rimmed vacuoles].

Rinsho Shinkeigaku 2009 Nov;49(11):852-5

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

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http://dx.doi.org/10.5692/clinicalneurol.49.852DOI Listing
November 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

New aspects of π-d interactions in magnetic molecular conductors.

Sci Technol Adv Mater 2009 Apr 6;10(2):024302. Epub 2009 Jul 6.

Department of Molecular Materials Science, Graduate School of Science, Osaka City University, Osaka 558-8585, Japan.

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http://dx.doi.org/10.1088/1468-6996/10/2/024302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5090432PMC
April 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

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

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

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

Monitoring autophagy in muscle diseases.

Methods Enzymol 2009 ;453:379-96

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

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http://dx.doi.org/10.1016/S0076-6879(08)04019-6DOI 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

Characterization of a regulatory gene, aveR, for the biosynthesis of avermectin in Streptomyces avermitilis.

Appl Microbiol Biotechnol 2009 Apr 16;82(6):1089-96. Epub 2009 Jan 16.

International Center for Biotechnology, Osaka University, 2-1 Yamadaoka, Suita, Osaka 565-0871, Japan.

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http://link.springer.com/10.1007/s00253-008-1850-2
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http://dx.doi.org/10.1007/s00253-008-1850-2DOI Listing
April 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

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://www.physiology.uiowa.edu/campbell/Publications/PDF/Mu
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http://linkinghub.elsevier.com/retrieve/pii/S038776040800196
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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

Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives.

Curr Opin Neurol 2008 Oct;21(5):596-600

National Institute of Neurosciences, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1097/WCO.0b013e32830dd595DOI Listing
October 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://linkinghub.elsevier.com/retrieve/pii/S096089660800536
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http://dx.doi.org/10.1016/j.nmd.2008.06.382DOI Listing
August 2008

Fe2OCl6(2-) salt formed by electrochemical oxidation of ethylenedioxytetrathiafulvalenoquinone-1,3-dithiolemethide in the presence of FeCl4- ion with a silicon wafer electrode.

Inorg Chem 2008 Aug 22;47(16):7074-6. Epub 2008 Jul 22.

Department of Chemistry, Graduate School of Science, Osaka Prefecture University, Osaka 599-8570, Japan.

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http://dx.doi.org/10.1021/ic8006487DOI Listing
August 2008

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.

Muscle Nerve 2008 Sep;38(3):1192-5

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

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http://dx.doi.org/10.1002/mus.21030DOI Listing
September 2008

Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.

Physiol Genomics 2008 Sep 15;35(1):106-15. Epub 2008 Jul 15.

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

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http://dx.doi.org/10.1152/physiolgenomics.90219.2008DOI Listing
September 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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http://linkinghub.elsevier.com/retrieve/pii/S096089660800106
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http://dx.doi.org/10.1016/j.nmd.2008.04.010DOI Listing
July 2008

An antiferromagnetic molecular metal based on a new bent-donor molecule.

J Am Chem Soc 2007 Oct 27;129(42):12618-9. Epub 2007 Sep 27.

Department of Chemistry, Osaka Prefecture University, Osaka, Japan.

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http://dx.doi.org/10.1021/ja074840qDOI Listing
October 2007

Weak ferromagnetism in a semiconducting (ethylenedithiodiselena- dithiafulvalenoquinone-1,3-diselenolemethide)2.FeBr4 salt.

Inorg Chem 2007 Oct 12;46(21):8478-80. Epub 2007 Sep 12.

Department of Chemistry, Osaka Prefecture University, Osaka 599-8570, Japan.

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http://dx.doi.org/10.1021/ic701260pDOI Listing
October 2007

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

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

Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Autophagy 2007 Jul-Aug;3(4):396-8. Epub 2007 Jul 12.

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.4270DOI Listing
August 2007

Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling.

Neurosci Res 2007 Apr 5;57(4):513-21. Epub 2007 Jan 5.

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.neures.2006.12.010DOI Listing
April 2007

Cys669-Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association.

Genes Cells 2007 Jan;12(1):75-88

Division of Infectious Disease Control, Advanced Medical Research Center, Nihon University School of Medicine, 30-1 Oyaguchi-Kamimachi, Itabashi-ku, Tokyo 173-8610, Japan.

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http://dx.doi.org/10.1111/j.1365-2443.2006.01033.xDOI Listing
January 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

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

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.

Ann Neurol 2006 Nov;60(5):597-602

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.20973DOI Listing
November 2006

Central core disease is due to RYR1 mutations in more than 90% of patients.

Brain 2006 Jun 18;129(Pt 6):1470-80. Epub 2006 Apr 18.

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/10.1093/brain/awl077DOI Listing
June 2006