Publications by authors named "Ichizo Nishino"

100Publications

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.

Acta Neuropathol Commun 2020 Nov 25;8(1):204. Epub 2020 Nov 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40478-020-01084-4DOI Listing
November 2020

A case of type 1 facioscapulohumeral muscular dystrophy (FSHD) with restrictive ventilatory defect and congestive heart failure.

eNeurologicalSci 2020 Dec 15;21:100284. Epub 2020 Oct 15.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ensci.2020.100284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7642826PMC
December 2020

Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS).

Pediatr Neurol 2020 Sep 30;114:1-4. Epub 2020 Sep 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2020.09.013DOI Listing
September 2020

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.

View Article

Download full-text PDF

Source
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).

View Article

Download full-text PDF

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

Antimitochondrial Antibody-associated Myopathy with Slowly Progressive Cardiac Dysfunction: A Case Report.

Intern Med 2020 Oct 28. Epub 2020 Oct 28.

Department of the Internal Medicine, Cardiovascular, Respiratory and Neurology Division, Asahikawa Medical University, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.5600-20DOI Listing
October 2020

COVID-19-associated myositis may be dermatomyositis.

Muscle Nerve 2020 Oct 23. Epub 2020 Oct 23.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.27105DOI Listing
October 2020

Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.

Sci Rep 2020 10 12;10(1):16385. Epub 2020 Oct 12.

Department of Veterinary Physiology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Bunkyo-ku, Tokyo, 113-8657, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-020-73315-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550355PMC
October 2020

Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis.

J Neurol 2020 Sep 26. Epub 2020 Sep 26.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-020-10241-7DOI Listing
September 2020

A case of eosinophilic fasciitis without skin manifestations: a case report in a patient with lupus and literature review.

Clin Rheumatol 2020 Sep 24. Epub 2020 Sep 24.

First Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuokashimoaizuki, Eiheiji, Fukui, 910-1193, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10067-020-05416-6DOI Listing
September 2020

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.

Orphanet J Rare Dis 2020 09 11;15(1):245. Epub 2020 Sep 11.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-020-01487-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488253PMC
September 2020

A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.

Neuromuscul Disord 2020 09 1;30(9):727-731. Epub 2020 Aug 1.

Department of Neurology, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi 321-0293, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2020.07.012DOI Listing
September 2020

Where are we moving in the classification of idiopathic inflammatory myopathies?

Curr Opin Neurol 2020 Oct;33(5):590-603

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/WCO.0000000000000855DOI Listing
October 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:

View Article

Download full-text PDF

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

Treatment experience of Taiwanese patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy.

Kaohsiung J Med Sci 2020 Aug 14;36(8):649-655. Epub 2020 Jul 14.

Department of Pediatrics, Translational Research Center of Neuromuscular Diseases, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/kjm2.12240DOI Listing
August 2020

Respiratory Dysfunction in Becker Muscular Dystrophy Patients: A Case Series and Autopsy Report.

J Neuromuscul Dis 2020 ;7(4):425-431

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-190438DOI Listing
January 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.

View Article

Download full-text PDF

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

Alternative splicing of clathrin heavy chain contributes to the switch from coated pits to plaques.

J Cell Biol 2020 Sep;219(9)

Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS 974, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1083/jcb.201912061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480091PMC
September 2020

[A case of Emery-Dreifuss muscular dystrophy with slight joint contracture].

Rinsho Shinkeigaku 2020 Aug 7;60(8):554-559. Epub 2020 Jul 7.

Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5692/clinicalneurol.60.cn-001431DOI Listing
August 2020

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report.

BMC Neurol 2020 Jun 17;20(1):247. Epub 2020 Jun 17.

Division of Neurology, Department of Medicine, Nihon University School of Medicine, 30-1, Oyaguchi-Kamicyo, Itabashi-ku, Tokyo, 173-8610, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12883-020-01818-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7298965PMC
June 2020

Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families.

J Neurol Sci 2020 08 5;415:116977. Epub 2020 Jun 5.

Department of Neuromuscular Research, National Institute of Neuroscience; and Department of Genome Medicine Development, Medical Genome Center; National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP). 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2020.116977DOI Listing
August 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.

View Article

Download full-text PDF

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

TTN missense variants in two siblings with asymmetric facial and limb weakness.

J Neurol Sci 2020 08 7;415:116885. Epub 2020 May 7.

Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2020.116885DOI Listing
August 2020

[Selective muscular atrophy in a family with hereditary myopathy with early respiratory failure].

Rinsho Shinkeigaku 2020 May 18;60(5):334-339. Epub 2020 Apr 18.

Department of Neurology, Dokkyo Medical University.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5692/clinicalneurol.cn-001380DOI Listing
May 2020

Obstruction-related dysphagia in inclusion body myositis: Cricopharyngeal bar on videofluoroscopy indicates risk of aspiration.

J Neurol Sci 2020 06 29;413:116764. Epub 2020 Feb 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2020.116764DOI Listing
June 2020

A 67-Year-Old Man with Leg Weakness and Hypertrophic Cardiomyopathy.

Brain Pathol 2020 03;30(2):427-428

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bpa.12824DOI Listing
March 2020

Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.

J Neuromuscul Dis 2020 ;7(2):193-201

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-190440DOI Listing
November 2020

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania.

Brain Dev 2020 Mar 21;42(3):277-288. Epub 2020 Jan 21.

Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8551, Japan; Department of Neuromuscular Research, National Institute of Neurosciences, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi, Kodaira, Tokyo 187-8551, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2019.12.005DOI Listing
March 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-019-02107-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6981323PMC
February 2020

Anti-RNP antibodies delineate a subgroup of myositis: A systematic retrospective study on 46 patients.

Autoimmun Rev 2020 Mar 7;19(3):102465. Epub 2020 Jan 7.

Department of Internal Medicine and Clinical Immunology, Sorbonne Université, University Pierre et Marie et Curie, APHP, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.autrev.2020.102465DOI Listing
March 2020

[A case of systemic AL amyloidosis diagnosed on muscle biopsy].

Rinsho Shinkeigaku 2020 Jan 17;60(1):60-63. Epub 2019 Dec 17.

Department of Neurology, Toyonaka Municipal Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5692/clinicalneurol.cn-001339DOI Listing
January 2020

Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation.

Ann Plast Surg 2020 01;84(1S Suppl 1):S84-S88

From the Division of Plastic Surgery, Department of Surgery, Kaohsiung Medical University Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SAP.0000000000002198DOI Listing
January 2020

"Boule du biceps" in dysferlinopathy.

Neurology 2020 01 10;94(2):83-84. Epub 2019 Dec 10.

From the Myo-Care Neuromuscular Center (R.E.S), Myo-Care National Foundation, Cairo, Egypt; Department of Radiology, (R.S.), Faculty of Medicine, Ain Shams University, Cairo, Egypt; Department of Neuromuscular Research, (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000008782DOI Listing
January 2020

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment.

J Neurol Sci 2020 02 20;409:116584. Epub 2019 Nov 20.

Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, Italy; Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2019.116584DOI Listing
February 2020

[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene].

Rinsho Shinkeigaku 2019 Dec 23;59(12):823-828. Epub 2019 Nov 23.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5692/clinicalneurol.cn-001333DOI Listing
December 2019

Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy.

Neuromuscul Disord 2019 12 18;29(12):930-939. Epub 2019 Sep 18.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.09.006DOI Listing
December 2019

[A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities].

Rinsho Shinkeigaku 2019 Nov 26;59(11):740-745. Epub 2019 Oct 26.

Department of Neurology, Dokkyo Medical University.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5692/clinicalneurol.cn-001330DOI Listing
November 2019

Paraspinal amyotrophy in DNM-2-related centronuclear myopathy.

J Neurol Sci 2019 Dec 16;407:116537. Epub 2019 Oct 16.

Division of Neurology, Department of Internal Medicine IV, Osaka Medical College, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2019.116537DOI Listing
December 2019

Thigh muscle MRI findings in myopathy associated with anti-mitochondrial antibody.

Muscle Nerve 2020 01 8;61(1):81-87. Epub 2019 Nov 8.

Department of Neurology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.26731DOI Listing
January 2020

Anti-HMGCR myopathy following acute Epstein-Barr virus infection.

Muscle Nerve 2020 01 22;61(1):E5-E8. Epub 2019 Oct 22.

Department of Neurology, Kitasato University School of Medicine, Sagamihara, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.26729DOI Listing
January 2020

[Continuous hyperCKemia without calf muscle hypertrophy associated with S1 radiculopathy].

Rinsho Shinkeigaku 2019 Sep 30;59(9):592-595. Epub 2019 Aug 30.

Department of Neurology, Aomori Prefectural Central Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5692/clinicalneurol.cn-001281DOI Listing
September 2019

Classification of idiopathic inflammatory myopathies: pathology perspectives.

Curr Opin Neurol 2019 10;32(5):704-714

Department of Neuromuscular Research, National Institute of Neuroscience.

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00019052-201910000-0000
Publisher Site
http://dx.doi.org/10.1097/WCO.0000000000000740DOI Listing
October 2019

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

Ann Clin Transl Neurol 2019 07 1;6(7):1311-1318. Epub 2019 Jul 1.

Department of Neurology, Peking University First Hospital, Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/acn3.50831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6649615PMC
July 2019

Dropped Head Syndrome Caused by Immune-mediated Necrotizing Myopathy.

Intern Med 2019 11 22;58(22):3343-3344. Epub 2019 Jul 22.

Department of Neurology, Aomori Prefectural Central Hospital, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.2930-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911761PMC
November 2019

Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble.

Neuromuscul Disord 2019 07 23;29(7):543-548. Epub 2019 May 23.

Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Departments of Genome Medicine Development and Clinical Genome Analysis, Medical Genome Center (MGC), National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.05.007DOI Listing
July 2019

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.

View Article

Download full-text PDF

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

Chronic sarcoid myopathy mimicking sporadic inclusion body myositis.

Clin Neurol Neurosurg 2019 07 6;182:84-86. Epub 2019 May 6.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clineuro.2019.05.001DOI Listing
July 2019

Two closely spaced mutations result in Ullrich congenital muscular dystrophy.

Hum Genome Var 2019 26;6:21. Epub 2019 Apr 26.

1Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41439-019-0052-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486579PMC
April 2019

An autopsy case of peliosis hepatis with X-linked myotubular myopathy.

Leg Med (Tokyo) 2019 May 18;38:77-82. Epub 2019 Apr 18.

Division of Legal Medicine, Department of Community Preventive Medicine, Niigata University Graduate School of Medicine and Dental Sciences, Niigata, Japan; Center of Cause of Death Investigation, Faculty of Medicine, Niigata University, Niigata, Japan. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S13446223183019
Publisher Site
http://dx.doi.org/10.1016/j.legalmed.2019.04.005DOI Listing
May 2019

A novel compound heterozygous variant of identified in a Japanese patient with Leigh syndrome.

Hum Genome Var 2019 19;6:19. Epub 2019 Apr 19.

1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41439-019-0050-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6474858PMC
April 2019

237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018.

Neuromuscul Disord 2019 05 2;29(5):401-410. Epub 2019 Mar 2.

Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany; Centro Nacional de Análisis Genómico, Center for Genomic Regulation, Barcelona Institute of Science and Technology, Baldri I reixac 4, 08028 Barcelona, Spain; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Ontario, K1Y 4E9, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2019.02.010DOI Listing
May 2019

Reply to: Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype.

Doc Ophthalmol 2019 06 30;138(3):257-258. Epub 2019 Mar 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10633-019-09688-5DOI Listing
June 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2018.12.002DOI Listing
May 2019

genotype explains 20% of phenotypic variability in GNE myopathy.

Neurol Genet 2019 Feb 1;5(1):e308. Epub 2019 Feb 1.

Institute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384023PMC
February 2019

Dropped Head in Sporadic Late-onset Nemaline Myopathy.

Intern Med 2019 07 25;58(13):1967-1968. Epub 2019 Feb 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.2247-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6663543PMC
July 2019

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.

Doc Ophthalmol 2019 04 30;138(2):147-152. Epub 2019 Jan 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10633-019-09673-yDOI Listing
April 2019

A Nationwide Survey on Danon Disease in Japan.

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

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022510X183042
Publisher Site
http://dx.doi.org/10.1016/j.jns.2018.10.015DOI Listing
December 2018

Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552).

J Clin Neurosci 2018 Dec 13;58:215-217. Epub 2018 Oct 13.

Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09675868183074
Publisher Site
http://dx.doi.org/10.1016/j.jocn.2018.10.021DOI Listing
December 2018

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

Muscle Nerve 2019 02 13;59(2):E5-E7. Epub 2018 Nov 13.

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mus.26355
Publisher Site
http://dx.doi.org/10.1002/mus.26355DOI Listing
February 2019

Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation.

J Neurol Sci 2018 10 17;393:142-144. Epub 2018 Aug 17.

Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2018.08.015DOI Listing
October 2018

Characteristic findings of skeletal muscle MRI in caveolinopathies.

Neuromuscul Disord 2018 10 31;28(10):857-862. Epub 2018 Jul 31.

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2018.07.010DOI Listing
October 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.

View Article

Download full-text PDF

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

Anti-mitochondrial antibody-associated myositis with eosinophilia and dropped head.

eNeurologicalSci 2018 Jun 23;11:15-16. Epub 2018 May 23.

Department of General Internal Medicine, Kobe City Medical Center General Hospital, Hyogo 650-0047, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ensci.2018.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006915PMC
June 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.

View Article

Download full-text PDF

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

Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen.

Neuromuscul Disord 2018 07 16;28(7):610-613. Epub 2018 May 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2018.04.011DOI Listing
July 2018

A new familial distal myopathy in Japan with predominant upper extremities.

J Neurol Sci 2018 07 7;390:205-207. Epub 2018 Apr 7.

Departments of Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2018.04.008DOI Listing
July 2018

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.

Brain Dev 2018 Oct 16;40(9):837-840. Epub 2018 May 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2018.05.001DOI Listing
October 2018

Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN.

Neurology 2018 05 25;90(21):974-976. Epub 2018 Apr 25.

From the National Center Hospital (A. Ishiyama, Y.K., Y.S., N.S., M.S.); National Institute of Neuroscience (A. Ishiyama, I.N.); Medical Genome Center (A. Iida, I.N.), National Center of Neurology and Psychiatry, Tokyo; Kawasaki Municipal Tama Hospital (Y.M.), St. Marianna University School of Medicine, Kanagawa; and Japanese Red Cross Musashino Hospital (M.O.), Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000005564DOI Listing
May 2018

A mild myopathy with anti-SRP plus anti-PL-12 antibodies successfully treated by oral steroid monotherapy.

J Neurol Sci 2018 05 24;388:7-9. Epub 2018 Feb 24.

Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2018.02.040DOI Listing
May 2018