Found: 253
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Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Case of elderly‐onset multiple acyl‐CoA dehydrogenase deficiency with a novel <italic>ETFDH</italic> mutation shows progressive muscle weakness and rhabdomyolysis.
- Published in:
- Neurology & Clinical Neuroscience, 2018, v. 6, n. 2, p. 39, doi. 10.1111/ncn3.12177
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- Publication type:
- Article
Screening for late-onset Pompe disease in undiagnosed myopathies.
- Published in:
- Neurology & Clinical Neuroscience, 2017, v. 5, n. 2, p. 60, doi. 10.1111/ncn3.12108
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- Publication type:
- Article
Case of McLeod syndrome with a novel genetic mutation.
- Published in:
- Neurology & Clinical Neuroscience, 2016, v. 4, n. 3, p. 115, doi. 10.1111/ncn3.12042
- By:
- Publication type:
- Article
Japanese case of Emery-Dreifuss muscular dystrophy with a novel LMNA missense mutation.
- Published in:
- Neurology & Clinical Neuroscience, 2016, v. 4, n. 3, p. 124, doi. 10.1111/ncn3.12047
- By:
- Publication type:
- Article
First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene.
- Published in:
- Neurology & Clinical Neuroscience, 2015, v. 3, n. 4, p. 150, doi. 10.1111/ncn3.175
- By:
- Publication type:
- Article
Family with centronuclear myopathy as a result of a novel p.R369G DNM2 mutation.
- Published in:
- Neurology & Clinical Neuroscience, 2015, v. 3, n. 4, p. 161, doi. 10.1111/ncn3.176
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- Publication type:
- Article
Case of dynamin 2 mutation-related sporadic centronuclear myopathy with peripheral neuropathy.
- Published in:
- Neurology & Clinical Neuroscience, 2015, v. 3, n. 4, p. 131, doi. 10.1111/ncn3.162
- By:
- Publication type:
- Article
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01084-4
- By:
- Publication type:
- Article
Eponym: Barth syndrome.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.
- Published in:
- 2011
- By:
- Publication type:
- journal article
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.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 11, p. 1455, doi. 10.15252/emmm.201404436
- By:
- Publication type:
- Article
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 6, p. 870, doi. 10.1002/emmm.201202057
- By:
- Publication type:
- Article
Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0524-x
- By:
- Publication type:
- Article
Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0277-y
- By:
- Publication type:
- Article
Nationwide patient registry for GNE myopathy in Japan.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0150-4
- By:
- Publication type:
- Article
A nationwide survey on marinesco-sjögren syndrome in Japan.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-58
- By:
- Publication type:
- Article
A nationwide survey on Marinesco-Sjögren syndrome in Japan.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Nationwide patient registry for GNE myopathy in Japan.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-60
- By:
- Publication type:
- Article
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).
- Published in:
- 2013
- By:
- Publication type:
- journal article
A Nationwide Survey on Danon Disease in Japan.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 11, p. 3507, doi. 10.3390/ijms19113507
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- Publication type:
- Article
Muscle magnetic resonance imaging abnormality in neuroleptic malignant syndrome: a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
The effects of dantrolene in the presence or absence of ryanodine receptor type 1 variants in individuals predisposed to malignant hyperthermia.
- Published in:
- Anaesthesia & Intensive Care, 2022, v. 50, n. 4, p. 312, doi. 10.1177/0310057X211053644
- By:
- Publication type:
- Article
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.
- Published in:
- Cerebellum, 2024, v. 23, n. 4, p. 1498, doi. 10.1007/s12311-024-01666-1
- By:
- Publication type:
- Article
A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Severe congenital myasthenic syndrome with novel variants in the CHRND gene.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15342
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- Publication type:
- Article
Sudden cardiac death prevention in an Emery-Dreifuss muscular dystrophy patient.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1
- By:
- Publication type:
- Article
High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation.
- Published in:
- Pediatrics International, 2012, v. 54, n. 1, p. 137, doi. 10.1111/j.1442-200X.2011.03401.x
- By:
- Publication type:
- Article
Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest.
- Published in:
- Pediatrics International, 2011, v. 53, n. 2, p. 159, doi. 10.1111/j.1442-200X.2010.03211.x
- By:
- Publication type:
- Article
ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.
- Published in:
- Genes to Cells, 2015, v. 20, n. 2, p. 121, doi. 10.1111/gtc.12201
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- Publication type:
- Article
Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
- Published in:
- Genes to Cells, 2014, v. 19, n. 11, p. 830, doi. 10.1111/gtc.12181
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- Publication type:
- Article
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71
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- Publication type:
- Article
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 129, doi. 10.1038/jhg.2013.133
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- Publication type:
- Article
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 564, doi. 10.1038/jhg.2013.33
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- Publication type:
- Article
Myotonic dystrophy type 2 is rare in the Japanese population.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 3, p. 219, doi. 10.1038/jhg.2011.152
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- Publication type:
- Article
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 7, p. 598, doi. 10.1007/s10038-008-0289-8
- By:
- Publication type:
- Article
Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 6, p. 555, doi. 10.1007/s10038-006-0397-2
- By:
- Publication type:
- Article
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24644-1
- By:
- Publication type:
- Article
Beta‐propeller protein–associated neurodegeneration presenting Rett‐like features: A case report and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 579, doi. 10.1002/ajmg.a.61993
- By:
- Publication type:
- Article
Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 234, doi. 10.1002/ajmg.a.35678
- By:
- Publication type:
- Article
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 772, doi. 10.1002/ajmg.a.35243
- By:
- Publication type:
- Article
Sporadic Late-onset Nemaline Myopathy Associated with Sjögren's Syndrome.
- Published in:
- Internal Medicine, 2024, v. 63, n. 19, p. 2683, doi. 10.2169/internalmedicine.3092-23
- By:
- Publication type:
- Article
Anti-NXP2 Antibody-positive Juvenile Dermatomyositis with Characteristic Fascial Thickening on Muscle Ultrasound and Improvement with Immunotherapy.
- Published in:
- Internal Medicine, 2024, v. 63, n. 12, p. 1813, doi. 10.2169/internalmedicine.2720-23
- By:
- Publication type:
- Article
Immune-mediated Necrotizing Myopathy in a Patient with Microscopic Polyangiitis.
- Published in:
- Internal Medicine, 2024, v. 63, n. 10, p. 1485, doi. 10.2169/internalmedicine.2583-23
- By:
- Publication type:
- Article
Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient.
- Published in:
- Internal Medicine, 2023, v. 62, n. 20, p. 3027, doi. 10.2169/internalmedicine.0425-22
- By:
- Publication type:
- Article
Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy.
- Published in:
- Internal Medicine, 2023, v. 62, n. 15, p. 2261, doi. 10.2169/internalmedicine.0798-22
- By:
- Publication type:
- Article
Becker Muscular Dystrophy Accompanied by Anti-HMGCR Antibody-positive Immune-mediated Necrotizing Myopathy.
- Published in:
- Internal Medicine, 2023, v. 62, n. 9, p. 1345, doi. 10.2169/internalmedicine.0202-22
- By:
- Publication type:
- Article