Works matching Nemaline myopathy
Results: 958
Étude d'une nouvelle observation de «Nemaline Myopathy».
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- Acta Neuropathologica, 1969, v. 13, n. 3, p. 250, doi. 10.1007/BF00690645
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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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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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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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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1229
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Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report.
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- 2019
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- journal article
Respiratory treatment in a patient with nemaline myopathy.
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- Clinics & Practice, 2019, v. 9, n. 4, p. 123, doi. 10.4081/cp.2019.1209
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Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02973-2
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Hypertrophic Cardiomyopathy in a Neonate Associated with Nemaline Myopathy.
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- Congenital Heart Disease, 2012, v. 7, n. 4, p. E37, doi. 10.1111/j.1747-0803.2011.00588.x
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Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness.
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- European Journal of Rheumatology, 2019, v. 6, n. 2, p. 105, doi. 10.5152/eurjrheum.2018.18071
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Sporadic late onset nemaline myopathy (SLONM) in an adult presenting with progressive muscle weakness.
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- European Journal of Rheumatology, 2019, v. 6, n. 1, p. 1, doi. 10.5152/eurjrheum.2018.18071
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Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
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- Clinical Genetics, 2020, v. 97, n. 6, p. 878, doi. 10.1111/cge.13745
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Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
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- Journal of Child Neurology, 2022, v. 37, n. 7, p. 652, doi. 10.1177/08830738221096316
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Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 20, p. 15124, doi. 10.3390/ijms242015124
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Functional Characterization of the Intact Diaphragm in a Nebulin-Based Nemaline Myopathy (NM) Model-Effects of the Fast Skeletal Muscle Troponin Activator tirasemtiv.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5008, doi. 10.3390/ijms20205008
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Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies.
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- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01518-9
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Nemaline myopathy in a six-month-old Pomeranian dog.
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- Journal of the South African Veterinary Association, 2022, v. 93, n. 1, p. 43, doi. 10.36303/JSAVA.2022.93.1.498
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A case of sporadic late‐onset nemaline myopathy without monoclonal gammopathy of unknown significance/human immunodeficiency virus successfully treated with intravenous gamma globulin.
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- Clinical & Experimental Neuroimmunology, 2021, v. 12, n. 2, p. 124, doi. 10.1111/cen3.12620
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Nemaline myopathies: a current view.
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- Journal of Muscle Research & Cell Motility, 2019, v. 40, n. 2, p. 111, doi. 10.1007/s10974-019-09519-9
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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.
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- Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0546-9
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Chemotherapy‐based approach is the preferred treatment for sporadic late‐onset nemaline myopathy with a monoclonal protein.
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- International Journal of Cancer, 2021, v. 148, n. 11, p. 2807, doi. 10.1002/ijc.33483
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Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
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- 2015
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- Case Study
68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy.
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- 2022
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- journal article
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.
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- 2017
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- journal article
Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 6, p. 1718, doi. 10.1093/brain/awt113
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K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 494, doi. 10.1093/brain/aws348
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Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3513, doi. 10.1093/brain/awr274
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Sporadic late onset nemaline myopathy with monoclonal gammopathy of undetermined significance: two cases with long term stability.
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- European Journal of Translational Myology, 2020, v. 30, n. 3, p. 1, doi. 10.4081/ejtm.2020.9225
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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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A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1683
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Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 678, doi. 10.1002/mgg3.325
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Ryanodine receptor type 3 (<italic>RYR3</italic>) as a novel gene associated with a myopathy with nemaline bodies.
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- European Journal of Neurology, 2018, v. 25, n. 6, p. 841, doi. 10.1111/ene.13607
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Ryanodine receptor type 3 (<italic>RYR3</italic>) as a novel gene associated with a myopathy with nemaline bodies.
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- European Journal of Neurology, 2018, v. 25, n. 5, p. 1, doi. 10.1111/ene.13607
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Inflammatory features in sporadic late‐onset nemaline myopathy are independent from monoclonal gammopathy.
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- Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12962
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Impact of hematologic complete response in the treatment of sporadic late‐onset nemaline myopathy associated with monoclonal gammopathy.
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- Clinical Case Reports, 2021, v. 9, n. 7, p. 1, doi. 10.1002/ccr3.4471
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α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy.
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- Clinical Case Reports, 2021, v. 9, n. 3, p. 1672, doi. 10.1002/ccr3.3866
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Study of the effect of sensory dynamic orthosis on postural control in a case of nemaline myopathy.
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- Cuestiones de Fisioterapia, 2019, v. 48, n. 3, p. 228
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Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
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- Acta Neuropathologica, 2019, v. 138, n. 3, p. 477, doi. 10.1007/s00401-019-02034-8
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Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-0893-1
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Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 19, p. 11995, doi. 10.3390/ijms231911995
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Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8113, doi. 10.3390/ijms23158113
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HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report.
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- 2023
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- Case Study
Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies.
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- Antioxidants, 2023, v. 12, n. 12, p. 2023, doi. 10.3390/antiox12122023
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NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
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- Acta Neuropathologica Communications, 2022, p. 1, doi. 10.1186/s40478-022-01491-9
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Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle.
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- 2015
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- Case Study
Nemaline myopathy and heart failure: role of ivabradine; a case report.
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- BMC Cardiovascular Disorders, 2015, v. 15, n. 1, p. 1, doi. 10.1186/1471-2261-15-5
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Nemaline myopathy and heart failure: role of ivabradine; a case report.
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- BMC Cardiovascular Disorders, 2015, v. 15, n. 1, p. 1, doi. 10.1186/1471-2261-15-5
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Nemaline myopathy and heart failure: role of ivabradine; a case report.
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- 2015
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- Case Study
Nemaline myopathy and heart failure: Role of ivabradine; a case report.
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- 2015
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- Case Study
Coincidence of Nemaline Myopathy and Agenesis ID of Corpus Callosum in a Newborn Infant: Case Report.
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- Journal of Dr. Behcet Uz Children's Hospital, 2019, v. 9, n. 3, p. 259, doi. 10.5222/buchd.2019.38801
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