Works matching DE "MUSCULAR dystrophy diagnosis"
Results: 115
Gene analysis and clinical features of 22 GNE myopathy patients.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).
- Published in:
- Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/9280812
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- Publication type:
- Article
Muscular Dystrophies.
- Published in:
- IIUM Medical Journal Malaysia, 2012, v. 11, n. 2, p. 1, doi. 10.31436/imjm.v11i2.535
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- Publication type:
- Article
Direct reprogramming of urine-derived cells with inducible MyoD for modeling human muscle disease.
- Published in:
- Skeletal Muscle, 2016, v. 6, p. 1, doi. 10.1186/s13395-016-0103-9
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- Publication type:
- Article
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.
- Published in:
- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0056-4
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- Publication type:
- Article
Creatine-Kinase- and Exercise-Related Muscle Damage Implications for Muscle Performance and Recovery.
- Published in:
- Journal of Nutrition & Metabolism, 2012, p. 1, doi. 10.1155/2012/960363
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- Publication type:
- Article
Poster presentations.
- Published in:
- Developmental Medicine & Child Neurology, 2017, v. 59, p. 39, doi. 10.1111/dmcn.13623
- Publication type:
- Article
Impact of secondary health conditions on social role participation for a long-term physical disability cohort.
- Published in:
- Psychology, Health & Medicine, 2019, v. 24, n. 10, p. 1159, doi. 10.1080/13548506.2019.1595684
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- Publication type:
- Article
Dystrophic Calcifications Secondary to Mastopexy With Subcutaneous Mesh.
- Published in:
- Journal of Breast Imaging, 2023, v. 5, n. 4, p. 600, doi. 10.1093/jbi/wbad025
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- Publication type:
- Article
Research highlights of partial neuromuscular disorders.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 382, doi. 10.3969/j.issn.1672.6731.2014.05.004
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- Publication type:
- Article
An adolescent with laminopathy presenting as ventricular tachycardia and left ventricular apical aneurysm.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Myocardial fibrosis imaging based on T1-mapping and extracellular volume fraction (ECV) measurement in muscular dystrophy patients: diagnostic value compared with conventional late gadolinium enhancement (LGE) imaging.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2014, p. 1004, doi. 10.1093/ehjci/jeu050
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- Publication type:
- Article
Upper limb function and activity in people with facioscapulohumeral muscular dystrophy: a web-based survey.
- Published in:
- Disability & Rehabilitation, 2017, v. 39, n. 3, p. 236, doi. 10.3109/09638288.2016.1140834
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- Publication type:
- Article
Muscle MRI in female carriers of emerinopathy.
- Published in:
- European Journal of Neurology, 2013, v. 20, n. 11, p. e127, doi. 10.1111/ene.12246
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- Publication type:
- Article
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
- Published in:
- European Journal of Neurology, 2007, v. 14, n. 12, p. 1305, doi. 10.1111/j.1468-1331.2007.01979.x
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- Publication type:
- Article
Report of a Patient with Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy.
- Published in:
- Archives of Iranian Medicine (AIM), 2015, v. 18, n. 1, p. 60
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- Publication type:
- Article
A Curious Case of Proximal Muscle Weakness with Intermittent Exacerbations.
- Published in:
- Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 453, doi. 10.4103/aian.aian_102_24
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- Publication type:
- Article
SEPN1-Related Myopathy: The Importance of Diagnosis and Challenges to Management of CMD in Resource Poor Settings.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
An infant with blended phenotype of zellweger spectrum disorder and congenital muscular dystrophy.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 5, p. 759, doi. 10.4103/aian.AIAN_1108_20
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- Publication type:
- Article
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.
- Published in:
- Annals of Indian Academy of Neurology, 2017, v. 20, n. 3, p. 302, doi. 10.4103/aian.AIAN_129_17
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- Publication type:
- Article
Congenital muscular dystrophy with inflammation: Diagnostic considerations.
- Published in:
- Annals of Indian Academy of Neurology, 2016, v. 19, n. 3, p. 356, doi. 10.4103/0972-2327.186814
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- Publication type:
- Article
An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation.
- Published in:
- Annals of Indian Academy of Neurology, 2012, v. 15, n. 4, p. 344, doi. 10.4103/0972-2327.104355
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- Publication type:
- Article
THE NATIONAL POSTURE AND MOBILITY GROUP, WARWICK UNIVERSITY, 11-12 APRIL 1994.
- Published in:
- British Journal of Occupational Therapy, 1994, v. 57, n. 5, p. 198
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- Publication type:
- Article
Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis.
- Published in:
- BMC Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1741-7015-11-77
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- Publication type:
- Article
Clinical and Genetic Characterizations to Diagnose Sarcoglycanopathies.
- Published in:
- Neurology Alert, 2021, v. 40, n. 6, p. 1
- By:
- Publication type:
- Article
Correlation of Electromyography With Pathology in Myopathy.
- Published in:
- Neurology Alert, 2019, v. 38, n. 5, p. 0
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- Publication type:
- Article
Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Monitoring skeletal muscle chronic fatty degenerations with fast T1-mapping.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child.
- Published in:
- Journal of Pediatric Research, 2018, v. 5, n. 1, p. 57, doi. 10.4274/jpr.26056
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- Publication type:
- Article
Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/3128735
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- Publication type:
- Article
Limb - girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 9, p. 832, doi. 10.3969/j.issn.1672-6731.2023.09.010
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- Publication type:
- Article
Analysis on clinical phenotype and gene mutation of two cases of limb - girdle muscular dystrophy type 2A during preclinical stage.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 7, p. 506
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- Publication type:
- Article
Interpretation of "Chinese guidelines for diagnosis and treatment of pseudohypertrophy muscular dystrophy".
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 7, p. 475
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- Publication type:
- Article
Needle muscle biopsy and its application.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2015, v. 15, n. 6, p. 432, doi. 10.3969/j.issn.1672-6731.2015.06.003
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- Publication type:
- Article
Muscular dystrophies: key elements for everyday diagnosis and management.
- Published in:
- Cardiogenetics, 2013, v. 3, n. 1, p. 49, doi. 10.4081/cardiogenetics.2013.e9
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- Publication type:
- Article
Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis.
- Published in:
- Rheumatology, 2022, v. 61, n. 4, p. 1645, doi. 10.1093/rheumatology/keab553
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- Publication type:
- Article
An 11-month-old boy with transaminitis.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A case of fascioscapulohumeral muscular dystrophy misdiagnosed as Becker's muscular dystrophy for 20 years.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Magnetic Resonance Imaging Is Sensitive to Pathological Amelioration in a Model for Laminin-Deficient Congenital Muscular Dystrophy (MDC1A).
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138254
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- Publication type:
- Article
Chronic Dosing with Membrane Sealant Poloxamer 188 NF Improves Respiratory Dysfunction in Dystrophic Mdx and Mdx/Utrophin<sup>-/-</sup> Mice.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0134832
- By:
- Publication type:
- Article
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Congenital muscular dystrophy due to novel compound heterozygote mutations in POMGNT1 gene.
- Published in:
- Journal of Pediatric Neurosciences, 2018, v. 13, n. 4, p. 462, doi. 10.4103/JPN.JPN_36_18
- By:
- Publication type:
- Article
Nuclear lamina remodelling and its implications for human disease.
- Published in:
- Cell & Tissue Research, 2015, v. 360, n. 3, p. 621, doi. 10.1007/s00441-014-2069-4
- By:
- Publication type:
- Article
Compression of the respiratory tract in Fukuyama congenital muscular dystrophy.
- Published in:
- Neurology & Clinical Neuroscience, 2018, v. 6, n. 4, p. 115, doi. 10.1111/ncn3.12194
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- Publication type:
- Article
Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.
- Published in:
- 1992
- By:
- Publication type:
- journal article