Works matching Muscular dystrophy
Results: 5000
磁共振成像在肌营养不良疾病诊断中的应用价值.
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- Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 11, p. 1231, doi. 10.7499/j.issn.1008-8830.2206052
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- Article
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.2123
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- Article
Pletencové svalové dystrofie.
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- Česká a Slovenská Neurologie a Neurochirurgie, 2022, v. 85, n. 6, p. 435, doi. 10.48095/cccsnn2022435
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- Article
Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients.
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- Journal of Cachexia, Sarcopenia & Muscle, 2020, v. 11, n. 2, p. 547, doi. 10.1002/jcsm.12527
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- Article
Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence.
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- Journal of Genetic Counseling, 2018, v. 27, n. 6, p. 1349, doi. 10.1007/s10897-018-0266-0
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- Article
Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00304
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- Article
Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy.
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- Neurology India, 2004, v. 52, n. 2, p. 203
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- Article
Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Restrospective Study.
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- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00196
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- Article
A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy.
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- Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 6, p. 602, doi. 10.7499/j.issn.1008-8830.1912133
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- Article
A rare case of dystrophinopathy: Duchenne muscular dystrophy-Becker muscular dystrophy intermediate complex.
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- 2022
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- Case Study
AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges.
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- Neurological Sciences, 2025, v. 46, n. 1, p. 125, doi. 10.1007/s10072-024-07675-6
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- Article
Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-79024-8
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A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat.
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- Animals (2076-2615), 2022, v. 12, n. 21, p. 2928, doi. 10.3390/ani12212928
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- Article
The golden retriever model of Duchenne muscular dystrophy.
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- Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0124-z
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- Article
Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies.
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- Russian Journal of Genetics, 2019, v. 55, n. 2, p. 238, doi. 10.1134/S1022795419020030
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- Article
Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.
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- Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 241, doi. 10.3390/jpm10040241
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Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies.
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- Disability & Rehabilitation, 2018, v. 40, n. 15, p. 1773, doi. 10.1080/09638288.2017.1312567
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Assessment of Weighted Gene Co-Expression Network Analysis to Explore Key Pathways and Novel Biomarkers in Muscular Dystrophy.
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- Pharmacogenomics & Personalized Medicine, 2021, v. 14, p. 431, doi. 10.2147/PGPM.S301098
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- Article
Assessment of Intelligence of Duchenne Muscular Dystrophy (DMD) Children and Adults and Parental Stress in a Muscular Dystrophy Center in Nepal.
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- Journal of Nepal Paediatric Society, 2016, v. 36, n. 3, p. 227, doi. 10.3126/jnps.v36i3.16357
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- Article
Na<sup>+</sup>-H<sup>+</sup> exchanger and proton channel in heart failure associated with Becker and Duchenne muscular dystrophies.
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- Canadian Journal of Physiology & Pharmacology, 2017, v. 95, n. 10, p. 1213, doi. 10.1139/cjpp-2017-0265
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- Article
Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy.
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- Cells (2073-4409), 2020, v. 9, n. 4, p. 844, doi. 10.3390/cells9040844
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- Article
Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.
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- 2023
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- Case Study
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.
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- Genes, 2019, v. 10, n. 11, p. 856, doi. 10.3390/genes10110856
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Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey.
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- Journal of Current Pediatrics / Guncel Pediatri, 2021, v. 19, n. 1, p. 15, doi. 10.4274/jcp.2021.0003
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- Article
Serial case report: Becker's muscular dystrophy phenotype with dilated cardiomyopathy in patients with out-of-frame deletion involving exons 38-43 of DMD gene.
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- Neurology Asia, 2021, v. 26, n. 1, p. 153
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- Article
Methylphenidate treatment of a Chinese boy with Becker muscular dystrophy combined with attention deficit hyperactivity disorder: a case report.
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- 2024
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- Publication type:
- Case Study
Molekulárně genetická diagnostika svalových dystrofií dětského věku.
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- Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 50
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- Article
Kongenitální svalové dystrofie.
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- Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 18
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- Article
How Important are Cardiac Electrical Abnormalities in Duchenne and Becker Muscular Dystrophy?
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- Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2022, v. 75, n. 4, p. 562, doi. 10.4274/atfm.galenos.2022.62533
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Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1183663
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- Article
Muscular dystrophies: key elements for everyday diagnosis and management.
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- Cardiogenetics, 2013, v. 3, n. 1, p. 49, doi. 10.4081/cardiogenetics.2013.e9
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A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years.
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- 2012
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- Publication type:
- Case Study
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy).
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03087-z
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- Article
Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02662-0
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Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies.
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- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02603-3
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Creation of a novel algorithm to identify patients with Becker and Duchenne muscular dystrophy within an administrative database and application of the algorithm to assess cardiovascular morbidity.
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- 2019
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- journal article
Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
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- Clinical Genetics, 2019, v. 96, n. 2, p. 126, doi. 10.1111/cge.13544
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Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?
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- Clinical Genetics, 2011, v. 79, n. 3, p. 236, doi. 10.1111/j.1399-0004.2010.01579.x
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- Article
Cardiovascular Surveillance of Duchenne and Becker Muscular Dystrophy and Female Carriers.
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- Current Pediatric Reviews, 2008, v. 4, n. 3, p. 159, doi. 10.2174/157339608785856027
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- Article
Caveolin and NOS in the Development of Muscular Dystrophy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8771, doi. 10.3390/ijms25168771
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Histone Deacetylases: Molecular Mechanisms and Therapeutic Implications for Muscular Dystrophies.
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- 2023
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- Literature Review
Mechanisms of Myofibre Death in Muscular Dystrophies: The Emergence of the Regulated Forms of Necrosis in Myology.
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- 2023
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- Publication type:
- Literature Review
A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.686800
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- Article
Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.657040
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- Article
Utrophin modulator drugs as potential therapies for Duchenne and Becker muscular dystrophies.
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- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 711, doi. 10.1111/nan.12735
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- Article
Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy.
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- Nutrients, 2018, v. 10, n. 12, p. 1947, doi. 10.3390/nu10121947
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- Article
Clinical Characteristics of Aged Becker Muscular Dystrophy Patients with Onset after 30 Years.
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- European Neurology, 1999, v. 42, n. 3, p. 145, doi. 10.1159/000008089
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- Article
Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-60
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- Article
Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives.
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- Cellular & Molecular Life Sciences, 2020, v. 77, n. 21, p. 4299, doi. 10.1007/s00018-020-03537-4
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- Article
Reliability and validity of the Thai version of the Pediatric Quality of Life inventory™ 3.0 Duchenne Muscular Dystrophy module in Thai children with Duchenne Muscular Dystrophy.
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- 2019
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- Publication type:
- journal article