Ichizo Nishino, MD, PhD - National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) - Director, Department of Neuromuscular Research

Ichizo Nishino

MD, PhD

National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)

Director, Department of Neuromuscular Research

Kodaira, Tokyo | Japan

Main Specialties: Other

Additional Specialties: Muscle disease

Ichizo Nishino, MD, PhD - National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) - Director, Department of Neuromuscular Research

Ichizo Nishino

MD, PhD

Introduction

Primary Affiliation: National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) - Kodaira, Tokyo , Japan

Specialties:

Additional Specialties:

Publications

100Publications

4403Reads

109Profile Views

2025PubMed Central Citations

Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

Brain Dev 2015 Aug 18;37(7):719-24. Epub 2014 Nov 18.

Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.10.013DOI Listing
August 2015
54 Reads
1 Citation
1.542 Impact Factor

[New congenital muscular dystrophy due to CHKB mutations].

Authors:
Ichizo Nishino

Rinsho Shinkeigaku 2013 ;53(11):1112-3

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

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http://dx.doi.org/10.5692/clinicalneurol.53.1112DOI Listing
August 2015
53 Reads

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
70 Reads
6.810 Impact Factor

Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber.

Brain Dev 2015 Apr 8;37(4):459-62. Epub 2014 Aug 8.

Department of Neuromuscular Research, National Institute of Neuroscience, NCNP, Kodaira, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.07.009DOI Listing
April 2015
40 Reads
1 Citation
1.542 Impact Factor

GNE myopathy: current update and future therapy.

J Neurol Neurosurg Psychiatry 2015 Apr 7;86(4):385-92. Epub 2014 Jul 7.

Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1136/jnnp-2013-307051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394625PMC
April 2015
31 Reads
30 Citations
6.810 Impact Factor

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).

J Neurol Neurosurg Psychiatry 2015 Mar 17;86(3):280-7. Epub 2014 Jun 17.

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

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http://dx.doi.org/10.1136/jnnp-2013-307052DOI Listing
March 2015
24 Reads
9 Citations
6.810 Impact Factor

Kyphoscoliosis and easy fatigability in a 14-year-old boy.

Neuropathology 2015 Feb 28;35(1):91-3. Epub 2014 Aug 28.

Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

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http://dx.doi.org/10.1111/neup.12147DOI Listing
February 2015
9 Reads
1.800 Impact Factor

Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event.

Brain Dev 2015 Feb 29;37(2):265-9. Epub 2014 Apr 29.

Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan; Department of Pediatric Neurology, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.04.002DOI Listing
February 2015
22 Reads
1.542 Impact Factor

ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.

Genes Cells 2015 Feb 18;20(2):121-34. Epub 2014 Nov 18.

Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, 3-8-1, Komaba, Meguro-ku, Tokyo, 153-8902, Japan.

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http://dx.doi.org/10.1111/gtc.12201DOI Listing
February 2015
61 Reads
6 Citations
2.810 Impact Factor

Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan.

Pediatr Neonatol 2015 Feb 7;56(1):62-5. Epub 2013 Mar 7.

Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.pedneo.2013.01.018DOI Listing
February 2015
41 Reads
0.880 Impact Factor

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.

Hum Mol Genet 2015 Feb 16;24(3):637-48. Epub 2014 Sep 16.

Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8556, Japan Department of Neuromuscular Research and.

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http://www.ncnp.go.jp/tmc/pdf/141023.pdf
Web Search
http://hmg.oxfordjournals.org/content/early/2014/09/16/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu477
Publisher Site
http://dx.doi.org/10.1093/hmg/ddu477DOI Listing
February 2015
87 Reads
34 Citations
6.393 Impact Factor

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
49 Reads
8 Citations
8.290 Impact Factor

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
33 Reads
2 Citations
4.591 Impact Factor

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

EMBO Mol Med 2014 Nov;6(11):1455-75

Myology Group, UMR S 787 INSERM, Université Pierre et Marie Curie Paris 6, Paris, France Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal

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http://dx.doi.org/10.15252/emmm.201404436DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237471PMC
November 2014
54 Reads
16 Citations
8.665 Impact Factor

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
21 Reads
2 Citations
2.810 Impact Factor

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/
Web Search
http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
Publisher Site
http://dx.doi.org/10.1093/brain/awu210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4172045PMC
October 2014
66 Reads
15 Citations
9.200 Impact Factor

Nationwide patient registry for GNE myopathy in Japan.

Orphanet J Rare Dis 2014 Oct 11;9:150. Epub 2014 Oct 11.

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

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http://dx.doi.org/10.1186/s13023-014-0150-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203883PMC
October 2014
72 Reads
6 Citations
3.360 Impact Factor

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

J Hum Genet 2014 Oct 7;59(10):581-3. Epub 2014 Aug 7.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2014.71DOI Listing
October 2014
49 Reads
9 Citations
2.462 Impact Factor

Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies.

J Neuroimmunol 2014 Sep 17;274(1-2):202-8. Epub 2014 Jul 17.

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/10.1016/j.jneuroim.2014.07.006DOI Listing
September 2014
47 Reads
11 Citations
2.470 Impact Factor

The muscle findings in a pediatric patient with live attenuated oral polio vaccine-related flaccid monoplegia.

Vaccine 2014 Sep 12;32(42):5379-81. Epub 2014 Aug 12.

Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita 879-5593, Japan.

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http://dx.doi.org/10.1016/j.vaccine.2014.07.089DOI Listing
September 2014
29 Reads
3.624 Impact Factor

A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles.

J Neurol Sci 2014 Aug 2;343(1-2):206-10. Epub 2014 Jun 2.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.05.056DOI Listing
August 2014
50 Reads
2.474 Impact Factor

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
36 Reads
14 Citations
6.810 Impact Factor

Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.

Neuromuscul Disord 2014 Jul 24;24(7):642-7. Epub 2014 Apr 24.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.04.002DOI Listing
July 2014
38 Reads
3 Citations
2.640 Impact Factor

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
33 Reads
2 Citations
2.010 Impact Factor

A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.

Intern Med 2013 ;52(21):2461-4

Department of Neurology, National Hospital Organization Okayama Medical Center, Japan.

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http://dx.doi.org/10.2169/internalmedicine.52.0311DOI Listing
June 2014
34 Reads
2 Citations
0.970 Impact Factor

201st ENMC International Workshop: Autophagy in muscular dystrophies--translational approach, 1-3 November 2013, Bussum, The Netherlands.

Neuromuscul Disord 2014 Jun 24;24(6):546-61. Epub 2014 Mar 24.

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/10.1016/j.nmd.2014.03.009DOI Listing
June 2014
21 Reads
9 Citations
2.640 Impact Factor

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
44 Reads
5 Citations
2.474 Impact Factor

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
29 Reads
8 Citations
2.640 Impact Factor

[A case of systemic lupus erythematosus predominantly presenting with myositis at onset].

Rinsho Shinkeigaku 2013 ;53(8):634-7

Department of Neurology, Faculty of Medical Sciences, University of Fukui, Japan.

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http://dx.doi.org/10.5692/clinicalneurol.53.634DOI Listing
April 2014
48 Reads

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
52 Reads
6 Citations
3.360 Impact Factor

[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
39 Reads
1 Citation

Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.

J Hum Genet 2014 Mar 16;59(3):129-33. Epub 2014 Jan 16.

1] Department of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan [2] Division of Neurology, Department of Medicine, Jichi Medical University, Shimotsuke, Japan.

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http://dx.doi.org/10.1038/jhg.2013.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973124PMC
March 2014
7 Reads
2.462 Impact Factor

Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare.

J Neurol Neurosurg Psychiatry 2014 Mar 21;85(3):248. Epub 2013 May 21.

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-2013-305394DOI Listing
March 2014
5 Reads
6.810 Impact Factor

[An advanced case of myopathy and dementia with a new mutation in the valosin-containing protein gene].

Rinsho Shinkeigaku 2013 ;53(6):465-9

Department of Neurology, The Jikei University School of Medicine.

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http://dx.doi.org/10.5692/clinicalneurol.53.465DOI Listing
February 2014
32 Reads
1 Citation

MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene.

Brain Dev 2014 Feb 10;36(2):180-2. Epub 2013 Apr 10.

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/10.1016/j.braindev.2013.03.001DOI Listing
February 2014
33 Reads
2 Citations
1.542 Impact Factor

[A case of inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease].

Rinsho Shinkeigaku 2013 ;53(6):458-64

Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine.

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http://dx.doi.org/10.5692/clinicalneurol.53.458DOI Listing
February 2014
41 Reads
1 Citation

A primigravida with very-long-chain acyl-CoA dehydrogenase deficiency.

Muscle Nerve 2014 Feb;49(2):295-6

Department of Neurology, Wakayama Medical University, Wakayama, Japan.

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http://dx.doi.org/10.1002/mus.24055DOI Listing
February 2014
11 Reads
1 Citation
2.283 Impact Factor

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients.

J Neurol 2013 Dec 22;260(12):3023-9. Epub 2013 Sep 22.

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

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http://dx.doi.org/10.1007/s00415-013-7104-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3843366PMC
December 2013
50 Reads
11 Citations
3.380 Impact Factor

[Case of amyloidosis with amyloid deposition detected only in skeletal muscles].

Rinsho Shinkeigaku 2012 ;52(10):739-43

Department of Neurology, Kobe University Graduate School of Medicine.

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http://dx.doi.org/10.5692/clinicalneurol.52.739DOI Listing
November 2013
19 Reads

[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
43 Reads
1 Citation

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
17 Reads
1 Citation
2.640 Impact Factor

[Pathogenesis of inclusion body myositis: autoimmune or degenerative disease?].

Brain Nerve 2013 Nov;65(11):1291-8

Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry (NCNP).

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November 2013
30 Reads

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.

Curr Opin Neurol 2013 Oct;26(5):536-43

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

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http://dx.doi.org/10.1097/WCO.0b013e328364c82dDOI Listing
October 2013
33 Reads
5 Citations
5.310 Impact Factor

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
45 Reads
4 Citations
3.234 Impact Factor

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
26 Reads
7 Citations
6.810 Impact Factor

Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice.

Sci Rep 2013 ;3:2142

Department of Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Komaba, Tokyo, Japan.

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http://dx.doi.org/10.1038/srep02142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701899PMC
September 2013
25 Reads
6 Citations
5.080 Impact Factor

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
38 Reads
1.542 Impact Factor

Unusual exocrine complication of pancreatitis in mitochondrial disease.

Brain Dev 2013 Aug 22;35(7):654-9. Epub 2012 Nov 22.

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

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http://dx.doi.org/10.1016/j.braindev.2012.10.015DOI Listing
August 2013
43 Reads
4 Citations
1.542 Impact Factor

Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.

Neuromuscul Disord 2013 Aug 22;23(8):675-81. Epub 2013 Jun 22.

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

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http://dx.doi.org/10.1016/j.nmd.2013.05.010DOI Listing
August 2013
46 Reads
6 Citations
2.640 Impact Factor

Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients.

J Neurol Neurosurg Psychiatry 2013 Jun 25;84(6):591. Epub 2013 Jan 25.

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http://dx.doi.org/10.1136/jnnp-2012-304230DOI Listing
June 2013
21 Reads
6.810 Impact Factor

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
23 Reads
4 Citations
2.640 Impact Factor

Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.

Neuromuscul Disord 2013 Apr 21;23(4):298-305. Epub 2013 Feb 21.

Division of Pediatric Emergency, Department of Emergency, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.

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http://dx.doi.org/10.1016/j.nmd.2013.01.005DOI Listing
April 2013
40 Reads
8 Citations
2.640 Impact Factor

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
50 Reads
14 Citations
2.640 Impact Factor

Cell stress molecules in the skeletal muscle of GNE myopathy.

BMC Neurol 2013 Mar 12;13:24. Epub 2013 Mar 12.

Department of Neurology, University Medical Center, Göttingen, Germany.

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http://dx.doi.org/10.1186/1471-2377-13-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616993PMC
March 2013
38 Reads
6 Citations
2.040 Impact Factor

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
27 Reads
4 Citations
2.640 Impact Factor

Heteroplasmic m.1624C>T mutation of the mitochondrial tRNA(Val) gene in a proband and his mother with repeated consciousness disturbances.

Mitochondrion 2012 Nov 10;12(6):617-22. Epub 2012 Oct 10.

Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.

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http://dx.doi.org/10.1016/j.mito.2012.10.002DOI Listing
November 2012
52 Reads
1 Citation
3.250 Impact Factor

A pediatric patient with myopathy associated with antibodies to a signal recognition particle.

Brain Dev 2012 Nov 19;34(10):877-80. Epub 2012 Mar 19.

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.2012.02.009DOI Listing
November 2012
46 Reads
1 Citation
1.542 Impact Factor

The C2A domain in dysferlin is important for association with MG53 (TRIM72).

PLoS Curr 2012 Nov 5;4:e5035add8caff4. Epub 2012 Nov 5.

Biomedical Research Institute, National Institute of Advanced Industrial Science and Technology; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry.

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http://dx.doi.org/10.1371/5035add8caff4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3493068PMC
November 2012
19 Reads
8 Citations

Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population.

Ann Rheum Dis 2012 Oct 8;71(10):1646-50. Epub 2012 Mar 8.

Institute of Rheumatology, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan.

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http://dx.doi.org/10.1136/annrheumdis-2011-200839DOI Listing
October 2012
105 Reads
11 Citations
10.380 Impact Factor

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Eur J Hum Genet 2012 Oct 23;20(10). Epub 2012 May 23.

Laboratoire de Diagnostic Génétique, Faculté de Médecine-CHRU, 1 place de l'Hôpital, Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2012.91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449068PMC
October 2012
150 Reads
10 Citations
4.350 Impact Factor

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
60 Reads
2 Citations
1.250 Impact Factor

Teaching NeuroImages: unilateral arm and contralateral leg amyotrophy in FSHD: unusual presentation.

Neurology 2012 Jul;79(5):e46

Department of Neurology, Nara Medical University School of Medicine, Nara, Japan.

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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e318261712
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http://dx.doi.org/10.1212/WNL.0b013e3182617125DOI Listing
July 2012
15 Reads
8.290 Impact Factor

Myopathy associated with antibodies to signal recognition particle: disease progression and neurological outcome.

Arch Neurol 2012 Jun;69(6):728-32

Department of Neurology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.

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http://dx.doi.org/10.1001/archneurol.2011.1728DOI Listing
June 2012
23 Reads
11 Citations
7.420 Impact Factor

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

Neurogenetics 2012 May 28;13(2):115-24. Epub 2012 Feb 28.

Division of Genetics, Program in Genomics, and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1007/s10048-012-0315-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3332380PMC
May 2012
156 Reads
11 Citations
2.884 Impact Factor

Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence.

Intern Med 2011 15;50(24):2987-91. Epub 2011 Dec 15.

Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Kagawa University, Japan.

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http://dx.doi.org/10.2169/internalmedicine.50.5563DOI Listing
May 2012
22 Reads
2 Citations
0.970 Impact Factor

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
33 Reads
6 Citations
2.640 Impact Factor

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
33 Reads
3 Citations
4.591 Impact Factor

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.

Am J Med Genet A 2012 Apr 9;158A(4):772-8. Epub 2012 Mar 9.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.35243DOI Listing
April 2012
43 Reads
2 Citations
2.160 Impact Factor

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 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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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3404883PMC
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April 2012
357 Reads
1337 Citations
11.753 Impact Factor

[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
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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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March 2012
38 Reads
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Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy.

Muscle Nerve 2012 Mar;45(3):436-40

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.

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March 2012
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Myotonic dystrophy type 2 is rare in the Japanese population.

J Hum Genet 2012 Mar 19;57(3):219-20. Epub 2012 Jan 19.

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http://dx.doi.org/10.1038/jhg.2011.152DOI Listing
March 2012
30 Reads
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High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation.

Pediatr Int 2012 Feb;54(1):137-40

Department of Pediatrics, Tokyo Medical University, Tokyo, Japan.

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February 2012
119 Reads
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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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February 2012
34 Reads
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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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February 2012
58 Reads
5 Citations
2.640 Impact Factor

Autophagy in lysosomal myopathies.

Brain Pathol 2012 Jan;22(1):82-8

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

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January 2012
31 Reads
25 Citations
3.840 Impact Factor

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
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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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3268427PMC
January 2012
26 Reads
11 Citations
4.573 Impact Factor

Phospholipid synthetic defect and mitophagy in muscle disease.

Autophagy 2011 Dec;7(12):1559-61

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

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http://dx.doi.org/10.4161/auto.7.12.17925DOI Listing
December 2011
33 Reads
2 Citations
11.753 Impact Factor

[Pathomechanism and prevalence of sporadic inclusion body myositis (sIBM)].

Rinsho Shinkeigaku 2011 Nov;51(11):964-6

Department of Neurology, Tohoku University School of Medicine.

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November 2011
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National Institute of Neuroscience

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