Works matching DE "LIMB-girdle muscular dystrophy"
Results: 278
Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9).
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- Documenta Ophthalmologica, 2023, v. 146, n. 1, p. 7, doi. 10.1007/s10633-022-09909-4
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- Article
LGMDR1 with Prominent Limb-Joint Contractures and Inflammatory Changes Misdiagnosed as Scleromyositis with a Novel CAPN3 Mutation: A Case Report.
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- touchREVIEWS in Neurology, 2023, v. 19, n. 1, p. 46, doi. 10.17925/USN.2023.19.1.46
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- Article
A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.
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- Turkish Journal of Medical Sciences, 2024, v. 54, n. 1, p. 86, doi. 10.55730/1300-0144.5769
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- Article
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
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- Journal of Neurogenetics, 2017, v. 31, n. 3, p. 161, doi. 10.1080/01677063.2017.1346093
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- Article
Clinical and genetic features of Calpainopathies in Saudi Arabia - a descriptive cross-sectional study.
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- European Review for Medical & Pharmacological Sciences, 2021, v. 25, n. 15, p. 4941
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- Article
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01320-z
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- Article
General anaesthesia in two patients with Limb-Girdle muscular dystrophy.
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- Anaesthesiology & Rescue Medicine / Anestezjologia i Ratownictwo, 2013, n. 4, p. 397
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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
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00608
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- Article
SGCD Homozygous Nonsense Mutation (p.Arg97<sup>∗</sup>) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report.
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00727
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- Article
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
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- Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/254950
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- Article
Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-35854-0
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- Article
Biasing the conformation of ELMO2 reveals that myoblast fusion can be exploited to improve muscle regeneration.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34806-4
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- Article
Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32318-9
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- Article
Glu20ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury.
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- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00367
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- Article
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
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- Genes, 2024, v. 15, n. 9, p. 1144, doi. 10.3390/genes15091144
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- Article
SGCD Missense Variant in a Lagotto Romagnolo Dog with Autosomal Recessively Inherited Limb-Girdle Muscular Dystrophy.
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- 2023
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- Case Study
Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.
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- 2023
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- Case Study
Current Classification of Canine Muscular Dystrophies and Identification of New Variants.
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- Genes, 2023, v. 14, n. 8, p. 1557, doi. 10.3390/genes14081557
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- Article
Special Issue "Genetics and Epigenetics of Neuromuscular Diseases".
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- 2023
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- Editorial
Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue.
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- 2023
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- Editorial
Loss of calpain3b in Zebrafish, a Model of Limb-Girdle Muscular Dystrophy, Increases Susceptibility to Muscle Defects Due to Elevated Muscle Activity.
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- Genes, 2023, v. 14, n. 2, p. 492, doi. 10.3390/genes14020492
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- Article
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
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- Genes, 2023, v. 14, n. 2, p. 372, doi. 10.3390/genes14020372
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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
Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
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- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101752
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- Article
Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.
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- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101736
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- Article
Expanding the Phenotype of B3GALNT2-Related Disorders.
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- Genes, 2022, v. 13, n. 4, p. 694, doi. 10.3390/genes13040694
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- Article
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
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- Genes, 2021, v. 12, n. 8, p. 1199, doi. 10.3390/genes12081199
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- Article
Special Issue "Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy".
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- 2021
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- Editorial
Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies.
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- Genes, 2021, v. 12, n. 1, p. 85, doi. 10.3390/genes12010085
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- Article
Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.
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- Genes, 2020, v. 11, n. 7, p. 716, doi. 10.3390/genes11070716
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- Article
Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures.
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- Genes, 2020, v. 11, n. 2, p. 129, doi. 10.3390/genes11020129
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- Article
Transcriptomic Analysis Reveals Involvement of the Macrophage Migration Inhibitory Factor Gene Network in Duchenne Muscular Dystrophy.
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- Genes, 2019, v. 10, n. 11, p. 939, doi. 10.3390/genes10110939
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- Article
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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- Article
The Histopathologic Examination of a Second Muscle Biopsy Specimen at a Later Date may Sometimes be the Best Approach to Make a Differential Diagnosis in Neuromuscular Disorders.
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- Turkish Journal of Pathology, 2022, v. 38, n. 1, p. 79, doi. 10.5146/tjpath.2019.01512
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- Article
Intermittent abdominal pressure ventilation: feasibility and efficacy in neuromuscular disease. A case report.
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- Monaldi Archives for Chest Disease, 2021, v. 91, n. 4, p. 1, doi. 10.4081/monaldi.2021.1828
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- Article
Novel POMT2 variants associated with limb-girdle muscular dystrophy R14: genetic, histological and functional studies.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03578-7
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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
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
Molecular Study of the Fukutin-Related Protein (FKRP) Gene in Patients from Southern Italy with Duchenne/Becker-like Phenotype.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10356, doi. 10.3390/ijms251910356
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- Article
The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4930, doi. 10.3390/ijms25094930
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- Article
Assessing the Role of Aquaporin 4 in Skeletal Muscle Function.
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- 2023
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- Literature Review
Specificities of the DMD Gene Mutation Spectrum in Russian Patients.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 12710, doi. 10.3390/ijms232112710
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- Article
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9817, doi. 10.3390/ijms23179817
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- Article
Advanced Gene-Targeting Therapies for Motor Neuron Diseases and Muscular Dystrophies.
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- 2022
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- Literature Review
Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 14, p. 7367, doi. 10.3390/ijms22147367
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- Article
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 306, doi. 10.3390/ijms22010306
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- Article
Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9589, doi. 10.3390/ijms21249589
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- Article
Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4548, doi. 10.3390/ijms20184548
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- Article