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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
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- Publication type:
- Article
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 59, doi. 10.1007/s00439-022-02485-2
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- Publication type:
- Article
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.
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- Cerebellum, 2024, v. 23, n. 4, p. 1498, doi. 10.1007/s12311-024-01666-1
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- Publication type:
- Article
Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 129, doi. 10.1038/jhg.2013.133
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- Publication type:
- Article
Factors influencing the decision to introduce alternative nutrition in patients with Duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 5, p. 737, doi. 10.1002/mus.27970
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- Publication type:
- Article
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
- Published in:
- 2022
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- Publication type:
- journal article
The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice.
- Published in:
- 2020
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- Publication type:
- journal article
Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 3, p. 284, doi. 10.1002/mus.27451
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- Publication type:
- Article
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
- Published in:
- 2017
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- Publication type:
- journal article
Respiratory and cardiac function in japanese patients with dysferlinopathy.
- Published in:
- 2016
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- Publication type:
- journal article
Anti-mitochondrial antibody–mediated myopathy with cardiac involvement: reply.
- Published in:
- European Heart Journal Case Reports, 2023, v. 7, n. 8, p. 1, doi. 10.1093/ehjcr/ytad348
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- Publication type:
- Article
Sick sinus syndrome concomitant with myopathy associated with anti-mitochondrial antibodies: a case report.
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- European Heart Journal Case Reports, 2023, v. 7, n. 6, p. 1, doi. 10.1093/ehjcr/ytac158
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- Publication type:
- Article
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02850-y
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- Publication type:
- Article
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 7, p. 853, doi. 10.1001/jamaneurol.2021.1509
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- Publication type:
- Article
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
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- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 3, p. 1, doi. 10.1111/nan.12787
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- Publication type:
- Article
Distribution of enzyme-bearing cells in GM<sub>2</sub> gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.
- Published in:
- Acta Neuropathologica, 2000, v. 99, n. 2, p. 161, doi. 10.1007/PL00007420
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- Publication type:
- Article
Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice).
- Published in:
- Acta Neuropathologica, 1998, v. 96, n. 1, p. 29, doi. 10.1007/s004010050857
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- Publication type:
- Article
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 555, doi. 10.3233/JND-230029
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- Publication type:
- Article
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
- Published in:
- Rheumatology, 2017, v. 56, n. 2, p. 287, doi. 10.1093/rheumatology/kew386
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- Publication type:
- Article
A 67‐Year‐Old Man with Leg Weakness and Hypertrophic Cardiomyopathy.
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- Brain Pathology, 2020, v. 30, n. 2, p. 427, doi. 10.1111/bpa.12824
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- Publication type:
- Article
A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency.
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- Brain Pathology, 2018, v. 28, n. 1, p. 123, doi. 10.1111/bpa.12575
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- Publication type:
- Article
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
- Published in:
- 2016
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- Publication type:
- journal article
Massive accumulation of 11C-Pittsburg compound B in the occipital lobes of a patient with early-onset dementia accompanied by muscle weakness and hypertonicity.
- Published in:
- Annals of Nuclear Medicine, 2013, v. 27, n. 10, p. 935, doi. 10.1007/s12149-013-0762-0
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- Publication type:
- Article
Cricopharyngeal bar on videofluoroscopy: high specificity for inclusion body myositis.
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- Journal of Neurology, 2021, v. 268, n. 3, p. 1016, doi. 10.1007/s00415-020-10241-7
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- Publication type:
- Article
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 2, p. 301, doi. 10.1007/s10545-011-9393-6
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- Publication type:
- Article
Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.621
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- Publication type:
- Article
Whole-Brain Voxel-Based Correlation Analysis between Regional Cerebral Blood Flow and Intelligence Quotient Score in Parkinson’s Disease.
- Published in:
- European Neurology, 2004, v. 52, n. 3, p. 151, doi. 10.1159/000081624
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- Publication type:
- Article
Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C<sub>2</sub>C<sub>12</sub> Myocytes and mdx Mice.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167811
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- Publication type:
- Article
Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy.
- Published in:
- Environmental Health & Preventive Medicine, 2014, v. 19, n. 6, p. 452, doi. 10.1007/s12199-014-0405-7
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- Publication type:
- Article
Masticatory dysfunction in patients with myotonic dystrophy (type 1): a 5-year follow-up.
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- Special Care in Dentistry, 2009, v. 29, n. 5, p. 210, doi. 10.1111/j.1754-4505.2009.00093.x
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- Publication type:
- Article
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 2, p. 235, doi. 10.1007/s00401-022-02530-4
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- Publication type:
- Article
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 125, doi. 10.1111/jns.12369
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- Publication type:
- Article
Unique Lewy pathology in myotonic dystrophy type 1.
- Published in:
- Neuropathology, 2022, v. 42, n. 2, p. 104, doi. 10.1111/neup.12790
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- Publication type:
- Article