Satomi Mitsuhashi

Satomi Mitsuhashi

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Satomi Mitsuhashi

Publications by authors named "Satomi Mitsuhashi"

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Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Sep 17. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
September 2019

Long-read sequencing for rare human genetic diseases.

J Hum Genet 2019 Sep 27. Epub 2019 Sep 27.

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

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http://dx.doi.org/10.1038/s10038-019-0671-8DOI Listing
September 2019

A novel de novo frameshift variant in SETD1B causes epilepsy.

J Hum Genet 2019 Aug 20;64(8):821-827. Epub 2019 May 20.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://www.nature.com/articles/s10038-019-0617-1
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http://dx.doi.org/10.1038/s10038-019-0617-1DOI Listing
August 2019

Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome.

J Hum Genet 2019 Jul 15;64(7):647-652. Epub 2019 Apr 15.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-019-0596-2DOI Listing
July 2019

Pathogenic variants of , , and associated with hypothalamic hamartoma.

Neurology 2019 Jul 13;93(3):e237-e251. Epub 2019 Jun 13.

From the Departments of Human Genetics (A.F., S. Mitsuhashi, T.M., A.T., S. Miyatake, N. Miyake, N. Matsumoto) and Neurosurgery (M.S.), Yokohama City University Graduate School of Medicine; Departments of Functional Neurosurgery (T.H., H. Shirozu, H.M., M.F., S.K.) and Child Neurology (J.T.), Epilepsy Center, National Hospital Organization Nishiniigata Chuo Hospital Niigata, Japan; Department of Pediatrics and Neurology (M.S.), Wayne State University, Children's Hospital of Michigan, Detroit Medical Center; Department of Pediatrics (M.K.), Showa University School of Medicine, Tokyo; Department of Biochemistry (M.N., H. Saitsu), Hamamatsu University School of Medicine; and Clinical Research Institute (Y.T.), Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000007774DOI Listing
July 2019

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

J Hum Genet 2019 May 14;64(5):487-492. Epub 2019 Feb 14.

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

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http://dx.doi.org/10.1038/s10038-019-0571-yDOI Listing
May 2019

SOFT syndrome in a patient from Chile.

Am J Med Genet A 2019 Mar 20;179(3):338-340. Epub 2018 Dec 20.

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

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http://doi.wiley.com/10.1002/ajmg.a.61015
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http://dx.doi.org/10.1002/ajmg.a.61015DOI Listing
March 2019

Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.

Genome Biol 2019 03 19;20(1):58. Epub 2019 Mar 19.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1186/s13059-019-1667-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425644PMC
March 2019

GNE myopathy in Chinese population: hotspot and novel mutations.

J Hum Genet 2019 Jan 2;64(1):11-16. Epub 2018 Nov 2.

Department of Neurology, Fudan University, Shanghai, China.

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http://dx.doi.org/10.1038/s10038-018-0525-9DOI Listing
January 2019

Novel SUZ12 mutations in Weaver-like syndrome.

Clin Genet 2018 11 6;94(5):461-466. Epub 2018 Aug 6.

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

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http://doi.wiley.com/10.1111/cge.13415
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http://dx.doi.org/10.1111/cge.13415DOI Listing
November 2018

A novel SLC9A1 mutation causes cerebellar ataxia.

J Hum Genet 2018 Oct 17;63(10):1049-1054. Epub 2018 Jul 17.

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

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http://www.nature.com/articles/s10038-018-0488-x
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http://dx.doi.org/10.1038/s10038-018-0488-xDOI Listing
October 2018

Zmynd17 controls muscle mitochondrial quality and whole-body metabolism.

FASEB J 2018 09 13;32(9):5012-5025. Epub 2018 Apr 13.

Musculoskeletal Molecular Biology Research Group, Basic and Translational Research Center for Hard Tissue Disease, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

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https://www.fasebj.org/doi/10.1096/fj.201701264R
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http://dx.doi.org/10.1096/fj.201701264RDOI Listing
September 2018

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.

Ann Neurol 2018 07 30;84(1):159-161. Epub 2018 Jul 30.

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

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http://dx.doi.org/10.1002/ana.25256DOI Listing
July 2018

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

J Hum Genet 2018 May 28;63(5):673-676. Epub 2018 Feb 28.

Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://www.nature.com/articles/s10038-018-0421-3
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http://dx.doi.org/10.1038/s10038-018-0421-3DOI Listing
May 2018

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

J Hum Genet 2018 Mar 16;63(3):263-270. Epub 2018 Jan 16.

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

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http://dx.doi.org/10.1038/s10038-017-0405-8DOI Listing
March 2018

A novel mutation in SLC1A3 causes episodic ataxia.

J Hum Genet 2018 Feb 5;63(2):207-211. Epub 2017 Dec 5.

Department of Human Genetics, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-017-0365-zDOI Listing
February 2018

GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.

Neuromuscul Disord 2018 02 22;28(2):154-157. Epub 2017 Nov 22.

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 Genome Medicine Development, Medical Genome Center (MGC), 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.2017.11.003DOI Listing
February 2018

Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy.

Sci Rep 2017 11 1;7(1):14789. Epub 2017 Nov 1.

Department of Applied Biochemistry, School of Engineering, Tokai University, Hiratsuka, Kanagawa, 259-1292, Japan.

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http://dx.doi.org/10.1038/s41598-017-13712-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665936PMC
November 2017

[Diagnosis for skeletal muscle disorders using next-generation sequencing.]

Clin Calcium 2017;27(3):401-408

Biomedical Informatics Laboratory, Department of Molecular Life Science, Tokai University School of Medicine, Japan.

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http://dx.doi.org/CliCa1703401408DOI Listing
October 2017

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

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.

Hum Mol Genet 2017 08;26(15):2984-3000

Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL 32610, USA.

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https://academic.oup.com/hmg/article/26/15/2984/3819203
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http://dx.doi.org/10.1093/hmg/ddx189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075367PMC
August 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

A portable system for rapid bacterial composition analysis using a nanopore-based sequencer and laptop computer.

Sci Rep 2017 07 18;7(1):5657. Epub 2017 Jul 18.

Biomedical Informatics Laboratory, Department of Molecular Life Science, Tokai University School of Medicine, Isehara, Kanagawa, 259-1193, Japan.

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http://dx.doi.org/10.1038/s41598-017-05772-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516037PMC
July 2017

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.

J Med Genet 2017 02 6;54(2):104-110. Epub 2016 Sep 6.

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

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http://dx.doi.org/10.1136/jmedgenet-2016-104073DOI Listing
February 2017

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

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Muscle Nerve 2016 10 24;54(4):690-5. Epub 2016 Aug 24.

Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610.

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http://dx.doi.org/10.1002/mus.25094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5453499PMC
October 2016

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

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

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

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

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

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

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

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

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

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

Transcriptional suppression of CTP:phosphoethanolamine cytidylyltransferase by 25-hydroxycholesterol is mediated by nuclear factor-Y and Yin Yang 1.

Biochem J 2015 Nov 26;471(3):369-79. Epub 2015 Aug 26.

Department of Biochemistry, Dokkyo Medical University School of Medicine, 880 Kitakobayashi, Mibu, Tochigi 321-0293, Japan

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http://dx.doi.org/10.1042/BJ20150318DOI Listing
November 2015

Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle.

Biochim Biophys Acta 2015 Oct 11;1852(10 Pt A):2042-7. Epub 2015 Jul 11.

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

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http://dx.doi.org/10.1016/j.bbadis.2015.07.006DOI Listing
October 2015

Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.

Neurol Genet 2015 Oct 24;1(3):e23. Epub 2015 Sep 24.

Departments of Neurology (R.I., H.W., K.I., A.N., N.S., M.T., M.K., M.A.), Medical Genetics (R.I., A.N., T.N., Y.A.), the Division of Interdisciplinary Medical Science (M.S.), and the Division of Cell Proliferation (R.F., K.N.), United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan; Department of Neurology (T.T.), National Hospital Organization Sendai-Nishitaga National Hospital, Sendai, Japan; Department of Neurology (M.T.), Iwate National Hospital, Ichinoseki, Japan; and Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) and Department of Genome Medicine Development, Medical Genome Center, NCNP (S.M., I.N.), Tokyo, Japan.

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http://dx.doi.org/10.1212/NXG.0000000000000023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809462PMC
October 2015

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

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

Silencing of drpr leads to muscle and brain degeneration in adult Drosophila.

Am J Pathol 2014 Oct 8;184(10):2653-61. Epub 2014 Aug 8.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2014.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188861PMC
October 2014

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

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.

FEBS Lett 2013 Sep 15;587(18):2952-7. Epub 2013 Aug 15.

Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.febslet.2013.08.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791867PMC
September 2013

Intranuclear rods myopathy with autonomic dysfunction.

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

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

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

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.

Hum Mol Genet 2013 Feb 29;22(3):568-77. Epub 2012 Oct 29.

Division of Genetics, Program in Genomics, Boston Children’s Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1093/hmg/dds467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3606007PMC
February 2013

Update on the genetics of limb girdle muscular dystrophy.

Semin Pediatr Neurol 2012 Dec;19(4):211-8

Program in Genomics and Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10719091120007
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http://dx.doi.org/10.1016/j.spen.2012.09.008DOI Listing
December 2012

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288031PMC
http://dx.doi.org/10.4161/auto.7.12.17925DOI Listing
December 2011

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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