Works matching DE "MUSCULAR dystrophy diagnosis"
Results: 115
Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia.
- Published in:
- 1996
- By:
- Publication type:
- journal article
Evaluation of an adaptive virtual laboratory environment using Western Blotting for diagnosis of disease.
- Published in:
- BMC Medical Education, 2014, v. 14, p. 1, doi. 10.1186/1472-6920-14-222
- By:
- Publication type:
- Article
An Aquatic Exercise Program for an Adolescent With Limb Girdle Muscular Dystrophy.
- Published in:
- Journal of Aquatic Physical Therapy, 2015, v. 23, n. 1, p. 3
- By:
- Publication type:
- Article
Hand Function in Muscular Dystrophies: Relationship Between Performance of Upper Limb and Jebsen--Taylor Tests.
- Published in:
- Perceptual & Motor Skills, 2017, v. 124, n. 2, p. 441, doi. 10.1177/0031512516688834
- By:
- Publication type:
- Article
Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.
- Published in:
- Sleep & Breathing, 2011, v. 15, n. 1, p. 99, doi. 10.1007/s11325-010-0330-y
- By:
- 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
- By:
- Publication type:
- Article
RNAseq analysis for the diagnosis of muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 55, doi. 10.1002/acn3.267
- By:
- Publication type:
- Article
A Rare Cause of Winged Scapula in Two Male Adolescents: Dorsal Scapular Nerve Neuropathy.
- Published in:
- Journal of Physical Medicine & Rehabilitation Sciences, 2024, v. 27, n. 1, p. 83, doi. 10.31609/jpmrs.2023-98613
- By:
- Publication type:
- Article
An 11-month-old boy with transaminitis.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Evaluation of One Hundred Pediatric Muscle Biopsies During A 2-Year Period in Mofid Children And Toos Hospitals.
- Published in:
- Iranian Journal of Child Neurology, 2013, v. 7, n. 2, p. 17
- By:
- Publication type:
- Article
Ullrich Congenital Muscular Dystrophy.
- Published in:
- Iranian Journal of Child Neurology, 2011, v. 5, n. 3, p. 1
- By:
- Publication type:
- Article
Scapular Winging in a Child.
- Published in:
- Oman Medical Journal, 2023, v. 38, n. 5, p. 3, doi. 10.5001/omj.2023.112
- By:
- Publication type:
- Article
Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy.
- Published in:
- 1996
- By:
- Publication type:
- journal article
STUDY OF THE CARDIORESPIRATORY FUNCTION IN PATIENTS WITH PROGRESSIVE MUSCULAR DYSTROPHY.
- Published in:
- Angiology, 1964, v. 15, n. 9, p. 407, doi. 10.1177/000331976401500904
- 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 of muscle diseases presenting with early respiratory failure.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1101, doi. 10.1007/s00415-014-7526-1
- By:
- Publication type:
- Article
Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family.
- Published in:
- Journal of Pediatrics Review, 2020, v. 8, n. 1, p. 35, doi. 10.32598/jpr.8.1.35
- By:
- Publication type:
- Article
Calpain-3 mutations in Turkey.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
- Published in:
- 2016
- By:
- Publication type:
- journal article
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Partial Merosin Deficiency and Precocious Puberty.
- Published in:
- European Journal of General Medicine, 2015, v. 12, n. 1, p. 90, doi. 10.15197/sabad.1.12.18
- By:
- Publication type:
- Article
Morphologic imaging in muscular dystrophies and inflammatory myopathies.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Magnetic resonance imaging, ultrasound and real-time ultrasound elastography of the thigh muscles in congenital muscle dystrophy.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.
- Published in:
- 2011
- By:
- Publication type:
- Other
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
- By:
- 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
- By:
- Publication type:
- Article
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 110, doi. 10.1038/ejhg.2013.82
- By:
- Publication type:
- Article
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 999, doi. 10.1038/ejhg.2012.42
- By:
- Publication type:
- Article
Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 64, doi. 10.1038/ejhg.2010.143
- By:
- Publication type:
- Article
Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0170517
- By:
- Publication type:
- Article
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170280
- By:
- Publication type:
- Article
PlGF–MMP-9–expressing cells restore microcirculation and efficacy of cell therapy in aged dystrophic muscle.
- Published in:
- Nature Medicine, 2008, v. 14, n. 9, p. 973, doi. 10.1038/nm.1852
- By:
- Publication type:
- Article
Congenital muscular dystrophy: from muscle to brain.
- Published in:
- Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-016-0289-9
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 199, doi. 10.1111/cge.12801
- By:
- Publication type:
- Article
Rethinking the genetic basis and inheritance of fascioscapulohumeral muscular dystrophy.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 219, doi. 10.1111/j.1399-0004.2012.01913.x
- By:
- Publication type:
- Article
Muscular dystrophies: An Indian scenario.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Muscular dystrophy: The long road ahead.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Atypical initial manifestation of facioscapulohumeral muscular dystrophy mimicking neuralgic amyotrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Limb girdle muscular dystrophies in India.
- Published in:
- 2015
- By:
- Publication type:
- Editorial
An extra hill in a poly-hill sign in a patient with facioscapulohumeral dystrophy.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Invited commentary. Sarcoglycanopathies: a clinico-pathological study.
- Published in:
- 2007
- By:
- Publication type:
- journal article
A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.
- Published in:
- Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 68, doi. 10.14744/TurkPediatriArs.2020.37880
- By:
- Publication type:
- Article
Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
- Published in:
- Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100835
- By:
- 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
Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.
- Published in:
- BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/3710814
- By:
- Publication type:
- Article
Bounded influence function based inference in joint modelling of ordinal partial linear model and accelerated failure time model.
- Published in:
- 2016
- By:
- Publication type:
- journal article