Works matching DE "NEMALINE myopathy"
Results: 732
Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1434, doi. 10.3390/ijms26041434
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- Article
Mutations in Filamin C Associated with Both Alleles Do Not Affect the Functioning of Mice Cardiac Muscles.
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- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1409, doi. 10.3390/ijms26041409
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- Article
Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating Braf<sup>L597V</sup> mouse model for cardio‐facio‐cutaneous syndrome.
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- Developmental Dynamics, 2021, v. 250, n. 8, p. 1074, doi. 10.1002/dvdy.309
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- Article
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
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- Human Genetics, 2019, v. 138, n. 8/9, p. 1051, doi. 10.1007/s00439-018-1896-x
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- Article
Anesthetic consideration for patients with nemaline rod myopathy: a literature review.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2017, v. 5, n. 1, p. 31, doi. 10.14587/paccj.2017.5
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- Article
Anesthetic management of a pediatric patient with NEB1-Genotype Nemaline Rod Myopathy for cleft palate repair.
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- Pediatric Anesthesia & Critical Care Journal (PACCJ), 2016, v. 4, n. 2, p. 78
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- Article
Choroidal structure investigated by choroidal vascularity index in patients with inherited retinal diseases.
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- International Journal of Retina & Vitreous, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40942-023-00457-w
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- Article
Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
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- Neurological Sciences, 2024, v. 45, n. 3, p. 1225, doi. 10.1007/s10072-023-07128-6
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- Article
Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.
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- Neurological Sciences, 2024, v. 45, n. 2, p. 819, doi. 10.1007/s10072-023-07102-2
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- Article
The role of amyloid β in the pathological mechanism of GNE myopathy.
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- Neurological Sciences, 2022, v. 43, n. 11, p. 6309, doi. 10.1007/s10072-022-06301-7
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- Article
Novel deletion in the ACTA1 gene associated with milder phenotype of nemaline myopathy in Chinese patient: a case report.
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- 2021
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- Publication type:
- Letter
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
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- Neurological Sciences, 2021, v. 42, n. 12, p. 5359, doi. 10.1007/s10072-021-05537-z
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- Article
Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck.
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- Neurological Sciences, 2021, v. 42, n. 4, p. 1549, doi. 10.1007/s10072-020-04937-x
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- Article
A novel homozygous splicing mutation of the AGL gene in a Chinese patient with severe myopathy involvement of glycogen storage disease type IIIa.
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- 2021
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- Publication type:
- Letter
Vitamin D receptor gene polymorphism in patients with osteomalacic myopathy in Egypt.
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- Neurological Sciences, 2021, v. 42, n. 3, p. 1031, doi. 10.1007/s10072-020-04622-z
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- Article
Atypical motor neuron disease with bent spine clinical onset and long survival carrying C9orf72 expansion.
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- 2021
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- Publication type:
- Letter
Absent trochlear and abducens nerves in a patient with congenital fibrosis of extraocular muscles.
- Published in:
- 2020
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- Publication type:
- Letter
Thoracic segmental spinal anesthesia for radical nephrectomy in a patient with amyotrophic lateral sclerosis—a case report.
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- Ain Shams Journal of Anesthesiology, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s42077-023-00326-6
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- Article
Epigenetic imprinting of human skeletal muscle cells: From metabolic diseases to myopathy.
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- Journal of Physiology, 2021, v. 599, n. 1, p. 9, doi. 10.1113/JP280954
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- Article
A bright light on myosin to study skeletal muscle relaxation.
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- Journal of Physiology, 2020, v. 598, n. 22, p. 5001, doi. 10.1113/JP280664
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- Article
The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy.
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- Journal of Physiology, 2019, v. 597, n. 15, p. 3999, doi. 10.1113/JP278119
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- Article
Dyke-Davidoff-Masson Syndrome: A Case Report.
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- Medica Innovatica, 2020, v. 9, n. 1, p. 31
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- Article
Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-63711-7
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- Article
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility.
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- 2023
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- Publication type:
- Case Study
Sporadic Spinal-Onset Amyotrophic Lateral Sclerosis Associated with Myopathy in Three Unrelated Portuguese Patients.
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- 2023
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- Publication type:
- Case Study
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
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- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1578, doi. 10.3390/biom11111578
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- Article
The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases.
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- Biomolecules (2218-273X), 2020, v. 10, n. 4, p. 596, doi. 10.3390/biom10040596
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- Article
Congenital hypotonia: systematic approach for prenatal detection.
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- Ultrasound in Obstetrics & Gynecology, 2023, v. 62, n. 1, p. 94, doi. 10.1002/uog.26178
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- Publication type:
- Article
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.
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- Frontiers in Pharmacology, 2019, p. 1, doi. 10.3389/fphar.2019.00814
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- Article
Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus.
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- 2023
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- Publication type:
- Case Study
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy.
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- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/2071738
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- Article
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy.
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- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/2071738
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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
Physical, Chemical and Histological Characterization of Pectoralis major Muscle of Broilers Affected by Wooden Breast Myopathy.
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- Animals (2076-2615), 2021, v. 11, n. 3, p. 596, doi. 10.3390/ani11030596
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- Article
The functional and molecular effects of problematic alcohol consumption on skeletal muscle: a focus on athletic performance.
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- American Journal of Drug & Alcohol Abuse, 2022, v. 48, n. 2, p. 133, doi. 10.1080/00952990.2022.2041025
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- Article
Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA).
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- PharmacoEconomics, 2022, v. 40, n. 1, p. 69, doi. 10.1007/s40273-021-01095-6
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- Article
ACTA1 is inhibited by PAX3-FOXO1 through RhoA-MKL1-SRF signaling pathway and impairs cell proliferation, migration and tumor growth in Alveolar Rhabdomyosarcoma.
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- Cell & Bioscience, 2021, v. 11, n. 1, p. 1, doi. 10.1186/s13578-021-00534-3
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- Article
Refining the Diagnosis of Growth-Related Muscle Abnormalities in Chickens Based on the Nomenclature Used to Characterise Human Myopathies.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.745031
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- Article
Troponin Variants as Markers of Skeletal Muscle Health and Diseases.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.747214
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- Article
Enamel Defects Associated With Dentin Sialophosphoprotein Mutation in Mice.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.724098
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- Article
The Influence of Supplemental Dietary Linoleic Acid on Skeletal Muscle Contractile Function in a Rodent Model of Barth Syndrome.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.731961
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- Article
Editorial: Recent Advances on Myocardium Physiology.
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- 2021
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- Publication type:
- Editorial
Nutritional Intervention Strategies Using Dietary Antioxidants and Organic Trace Minerals to Reduce the Incidence of Wooden Breast and Other Carcass Quality Defects in Broiler Birds.
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- Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2021.663409
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- Publication type:
- Article
Late-onset megaconial myopathy in mice lacking group I Paks.
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- Skeletal Muscle, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1186/s13395-019-0191-4
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- Publication type:
- Article
Human levator veli palatini muscle: a novel source of mesenchymal stromal cells for use in the rehabilitation of patients with congenital craniofacial malformations.
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- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13287-020-02017-7
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- Publication type:
- Article
Congenital muscular dystrophy-associated inflammatory chemokines provide axes for effective recruitment of therapeutic adult stem cell into muscles.
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- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13287-020-01979-y
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- Article
Varying thin filament activation in the framework of the Huxley'57 model.
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- International Journal for Numerical Methods in Biomedical Engineering, 2022, v. 38, n. 12, p. 1, doi. 10.1002/cnm.3655
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- Article
DOES METABOLIC MYOPATHY RESPOND TO STEROIDS? - A CASE REPORT.
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- Pediatric Oncall Journal, 2019, v. 16, n. 1, p. 19, doi. 10.7199/ped.oncall.2019.3
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- Article
TO DETERMINE THE FREQUENCY OF HEPATITIS C INFECTION IN PATIENTS WITH ISCHEMIC STROKE AT CMCH LARKANA.
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- Professional Medical Journal, 2020, v. 27, n. 1, p. 162, doi. 10.29309/tpmj/2019.27.01.4093
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- Article
Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy.
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- Application of Clinical Genetics, 2019, v. 12, p. 113, doi. 10.2147/TACG.S187481
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- Publication type:
- Article