Works matching DE "LIMB-girdle muscular dystrophy"
Results: 278
Investigating genotype-phenotype correlation of limb-girdle muscular dystrophy R8: association of clinical severity, protein biological function and protein oligomerization.
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- Acta Neuropathologica Communications, 2025, v. 13, n. 1, p. 1, doi. 10.1186/s40478-025-01971-8
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- Article
Obituary for Tamao Endo (1954–2024).
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- Glycobiology, 2025, v. 35, n. 2, p. 1, doi. 10.1093/glycob/cwae100
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- Article
Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions.
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- Neurological Sciences, 2024, v. 45, n. 4, p. 1691, doi. 10.1007/s10072-023-07169-x
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- Article
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
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- Neurological Sciences, 2022, v. 43, n. 7, p. 4473, doi. 10.1007/s10072-022-05934-y
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- Article
Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP‐activated protein kinase signalling and poor exercise tolerance in a model of limb‐girdle muscular dystrophy R1/2A.
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- Journal of Physiology, 2020, v. 598, n. 18, p. 3927, doi. 10.1113/JP279943
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- Article
Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 8, p. 1020, doi. 10.3390/brainsci11081020
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- Article
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.
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- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 256, doi. 10.3390/biom14030256
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- Article
Regulating Proteasome Activity.
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- Biomolecules (2218-273X), 2022, v. 12, n. 3, p. 343, doi. 10.3390/biom12030343
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- Article
TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis.
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- Biomolecules (2218-273X), 2021, v. 11, n. 3, p. 408, doi. 10.3390/biom11030408
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- Article
Case report: A single novel calpain 3 gene variant associated with mild myopathy.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437859
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- Article
Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1477291
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- Article
Case report: A novel mutation of the CAPN3 gene in a Chinese family with limb-girdle muscular dystrophy type 2A.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1410727
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- Article
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.
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- 2018
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- Case Study
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
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- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
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- Article
Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers.
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- Skeletal Muscle, 2017, v. 7, p. 9, doi. 10.1186/s13395-017-0131-0
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- Article
Angiotensin II receptor blocker losartan exacerbates muscle damage and exhibits weak blood pressure-lowering activity in a dysferlin-null model of Limb-Girdle muscular dystrophy type 2B.
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- PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0220903
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Treadmill Training with HAL Exoskeleton--A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy--Preliminary Study.
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- Frontiers in Neuroscience, 2017, p. 1, doi. 10.3389/fnins.2017.00449
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- Article
Another Cause for HyperCKemia.
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- Indian Pediatrics, 2025, v. 62, n. 2, p. 175, doi. 10.1007/s13312-025-3387-1
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- Article
Gene Therapy for the Limb-Girdle Muscular Dystrophy.
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- Indian Pediatrics, 2022, v. 59, n. 3, p. 213, doi. 10.1007/s13312-022-2469-6
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- Article
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
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- BMC Musculoskeletal Disorders, 2024, v. 25, p. 1, doi. 10.1186/s12891-024-07354-9
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- Article
Limb-girdle muscular dystrophy in pregnancy: a narrative review.
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- Archives of Gynecology & Obstetrics, 2024, v. 310, n. 5, p. 2373, doi. 10.1007/s00404-024-07738-1
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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
Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI.
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- Journal of Clinical Medicine, 2024, v. 13, n. 7, p. 1958, doi. 10.3390/jcm13071958
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- Article
Portrait of Dysferlinopathy: Diagnosis and Development of Therapy.
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- Journal of Clinical Medicine, 2023, v. 12, n. 18, p. 6011, doi. 10.3390/jcm12186011
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- Article
Limb–Girdle Muscular Dystrophies Classification and Therapies.
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- Journal of Clinical Medicine, 2023, v. 12, n. 14, p. 4769, doi. 10.3390/jcm12144769
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- Article
The Clinicopathological Distinction between Immune-Mediated Necrotizing Myopathy and Limb–Girdle Muscular Dystrophy R2: Key Points to Prevent Misdiagnosis.
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- Journal of Clinical Medicine, 2022, v. 11, n. 21, p. 6566, doi. 10.3390/jcm11216566
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- Article
ANO5 ensures trafficking of annexins in wounded myofibers.
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- Journal of Cell Biology, 2021, v. 220, n. 3, p. 1, doi. 10.1083/jcb.202007059
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- Article
Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice.
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- Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102629
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- Article
Oxidative Stress, Inflammation and Connexin Hemichannels in Muscular Dystrophies.
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- Biomedicines, 2022, v. 10, n. 2, p. 507, doi. 10.3390/biomedicines10020507
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- Article
Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.
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- Experimental & Therapeutic Medicine, 2021, v. 21, n. 2, p. 1, doi. 10.3892/etm.2020.9536
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- Article
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report.
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- Biomedical Reports, 2020, v. 12, n. 2, p. 46, doi. 10.3892/br.2019.1260
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- Article
Hip region muscular dystrophy and emergence of motor deficits in dysferlin-deficient Bla/J mice.
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- Physiological Reports, 2017, v. 5, n. 6, p. 1, doi. 10.14814/phy2.13173
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- Article
Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2236
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- Article
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.
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- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 2, p. 1, doi. 10.1002/mgg3.2101
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- Article
Genetic variability in Iranian limb‐girdle muscular dystrophy type 2B patients: An evidence of a founder effect.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1029
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- Article
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-47849-3
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- Article
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
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- Journal of Personalized Medicine, 2023, v. 13, n. 3, p. 520, doi. 10.3390/jpm13030520
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- Article
Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B.
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- Neurosciences, 2020, v. 25, n. 3, p. 214, doi. 10.17712/nsj.2020.3.20200002
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Limb Girdle Muscular Dystrophy (LGMD): Case Report.
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- 2015
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- Case Study
Hospital admissions from the emergency department of adult patients affected by myopathies.
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- European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16214
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- Article
Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study.
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- European Journal of Neurology, 2022, v. 29, n. 6, p. 1815, doi. 10.1111/ene.15306
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- Article
Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies.
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- European Journal of Neurology, 2021, v. 28, n. 2, p. 660, doi. 10.1111/ene.14592
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- Article
Oxidative Stress, NF-κB and the Ubiquitin Proteasomal Pathway in the Pathology of Calpainopathy.
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- Neurochemical Research, 2013, v. 38, n. 10, p. 2009, doi. 10.1007/s11064-013-1107-z
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- Article
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03521-2
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- Article
A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
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- Orphanet Journal of Rare Diseases, 2025, p. 1, doi. 10.1186/s13023-024-03425-1
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- Article
A case of pregnancy complicated with dilated cardiomyopathy 1X.
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- Oxford Medical Case Reports, 2015, v. 2015, n. 11, p. 351, doi. 10.1093/omcr/omv056
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- Article
Aspecte clinico-genetice în distrofiile musculare progresive.
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- Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2019, v. 25, n. 3, p. 71
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- Article
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6
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- Article
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6
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- Article
Incidental Severe Fatty Degeneration of the Erector Spinae in a Patient with L5–S1 Disc Extrusion Diagnosed with Limb-Girdle Muscular Dystrophy R2 Dysferin-Related.
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- Diagnostics (2075-4418), 2020, v. 10, n. 8, p. 530, doi. 10.3390/diagnostics10080530
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- Article