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Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1.
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- Annals of Laboratory Medicine, 2024, v. 44, n. 5, p. 383, doi. 10.3343/alm.2024.0197
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- Article
Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.
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- Annals of Laboratory Medicine, 2024, v. 44, n. 5, p. 437, doi. 10.3343/alm.2023.0437
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- Article
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
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- Clinical Genetics, 2024, v. 106, n. 1, p. 13, doi. 10.1111/cge.14533
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- Article
From wings to whiskers to stem cells: why every model matters in fragile X syndrome research.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09545-w
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- Article
Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5836, doi. 10.3390/ijms25115836
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- Article
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1365729
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- Article
Synaptic defects in a drosophila model of muscular dystrophy.
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- Frontiers in Cellular Neuroscience, 2024, p. 01, doi. 10.3389/fncel.2024.1381112
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- Article
Meta-analysis towards FSHD reveals misregulation of neuromuscular junction, nuclear envelope, and spliceosome.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06325-z
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- Article
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-60761-9
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- Article
Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.
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- Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05259-8
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- Article
Ambient floor vibration sensing advances the accessibility of functional gait assessments for children with muscular dystrophies.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-60034-5
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- Article
Molecular diagnostic yield of whole-exome sequencing in Saudi autistic children with epilepsy.
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- Journal of Health Sciences (Qassim University), 2024, v. 18, n. 3, p. 15
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- Article
In silico analysis of rib force distribution in postscapulothoracic arthrodesis model.
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- Journal of Orthopaedic Research, 2024, v. 42, n. 5, p. 942, doi. 10.1002/jor.25771
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- Article
Editorial: Development of the precision diagnostics and treatment for duchenne/becker muscular dystrophy.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1396816
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- Article
The Spectrum of Deletion Pattern in the Dystrophin Gene in Duchenne Muscular Dystrophy Patients: A Cross-sectional Study from Northeast India.
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- Journal of Clinical & Diagnostic Research, 2024, v. 18, n. 4, p. 1, doi. 10.7860/JCDR/2024/67604.19298
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- Article
Elucidating the Impact of Deleterious Mutations on IGHG1 and Their Association with Huntington's Disease.
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- Journal of Personalized Medicine, 2024, v. 14, n. 4, p. 380, doi. 10.3390/jpm14040380
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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
Targeted Sequencing of Human Satellite 2 Repeat Sequences in Plasma cfDNA Reveals Potential Breast Cancer Biomarkers.
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- Diagnostics (2075-4418), 2024, v. 14, n. 6, p. 609, doi. 10.3390/diagnostics14060609
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- Article
The DUX4–HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3327, doi. 10.3390/ijms25063327
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- Article
Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03114-z
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- Article
fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46187-x
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- Article
Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs.
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- Animals (2076-2615), 2024, v. 14, n. 5, p. 722, doi. 10.3390/ani14050722
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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
Mitochondrial Transplantation Therapy Ameliorates Muscular Dystrophy in mdx Mouse Model.
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- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 316, doi. 10.3390/biom14030316
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- Article
Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy.
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- Experimental & Therapeutic Medicine, 2024, v. 27, n. 3, p. N.PAG, doi. 10.3892/etm.2024.12385
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- Article
Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2687, doi. 10.3390/ijms25052687
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- Article
Development of the PROMIS pediatric stigma and extension to the PROMIS pediatric stigma: skin item banks.
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- Quality of Life Research, 2024, v. 33, n. 3, p. 865, doi. 10.1007/s11136-023-03574-z
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- Article
Consequences of GMPPB deficiency for neuromuscular development and maintenance.
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- Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1356326
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- Article
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45933-5
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- Article
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
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- Cells (2073-4409), 2024, v. 13, n. 4, p. 329, doi. 10.3390/cells13040329
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- Article
Case report: Identification of facioscapulohumeral muscular dystrophy 1 in two siblings with normal phenotypic parents using optical genome mapping.
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- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1258831
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- Article
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312
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- Article
The Impact of miR-155-5p on Myotube Differentiation: Elucidating Molecular Targets in Skeletal Muscle Disorders.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 3, p. 1777, doi. 10.3390/ijms25031777
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- Article
Production of Proliferation- and Differentiation-Competent Porcine Myoblasts for Preclinical Studies in a Porcine Large Animal Model of Muscular Insufficiency.
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- Life (2075-1729), 2024, v. 14, n. 2, p. 212, doi. 10.3390/life14020212
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- Article
Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report.
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- Turkish Journal of Anaesthesiology & Reanimation, 2024, v. 52, n. 1, p. 36, doi. 10.4274/TJAR.2024.231471
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- Article
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
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- BMC Musculoskeletal Disorders, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12891-023-07150-x
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- Article
Early versus late diagnosis of LAMA2 congenital muscular dystrophy: a distinct consequence.
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- Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2024, v. 60, n. 1, p. 1, doi. 10.1186/s41983-023-00777-6
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- Article
Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.
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- SAGE Open Medical Case Reports, 2024, p. 1, doi. 10.1177/2050313X231221436
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- Article
Muscular Dystrophies and Genetic Counseling.
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- Gazi Medical Journal, 2024, v. 35, p. 11
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- Article
Inovations in Muscular Dystrophy Treatment: Hopes and Challenges.
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- Gazi Medical Journal, 2024, v. 35, p. 14
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- Article
Neuromuscular Diseases, Genetic Etiology and Next Generation Sequence Analysis.
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- Gazi Medical Journal, 2024, v. 35, p. 38
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- Article
Mosaic Paternal Uniparental Disomy of chromosome 11 in a Patient with Beckwith-Wiedemann Syndrome.
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- Gazi Medical Journal, 2024, v. 35, p. 42
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- Article
A Rare Case Report of Dysferlinopathy with Dominant Behaviour.
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- Gazi Medical Journal, 2024, v. 35, p. 70
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- Publication type:
- Article
Case Report: Patient with Merosin-Deficient Congenital Muscular Dystrophy with Occipital Lissencephaly.
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- Gazi Medical Journal, 2024, v. 35, p. 77
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- Article
Role of Ayurveda in the Management of Becker Muscular Dystrophy: A Case Study.
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- Ancient Science of Life, 2024, v. 38, n. 3/4, p. 173, doi. 10.4103/asl.asl_49_21
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- Article
Managing childhood acute lymphoblastic leukemia in a child with Emery-Dreifuss muscular dystrophy.
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- 2024
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- Case Study
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 281, doi. 10.1093/brain/awad315
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- Article
Genetic mechanisms of fertilization failure and early embryonic arrest: a comprehensive review.
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- Human Reproduction Update, 2024, v. 30, n. 1, p. 48, doi. 10.1093/humupd/dmad026
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- Article
CARDIOVASCULAR CHARACTERISTICS IN PATIENTS WITH PRADER-WILLI SYNDROME.
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- Internal Medicine / Medicină Internă, 2024, v. 21, n. 1, p. 49, doi. 10.2478/inmed-2024-0277
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- Article
Surgical treatment for lumbar hyperlordosis associated with facioscapulohumeral muscular dystrophy: A case series.
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- Journal of Orthopaedic Science, 2024, v. 29, n. 1, p. 428, doi. 10.1016/j.jos.2022.07.007
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- Article