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Advanced Search Results For "MUSCULAR dystrophy"

1 - 10 of 47,558 results for
 "MUSCULAR dystrophy"
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Nanomedicine for Treating Muscle Dystrophies: Opportunities, Challenges, and Future Perspectives.

Publication Type: Academic Journal

Source(s): International journal of molecular sciences [Int J Mol Sci] 2022 Oct 10; Vol. 23 (19). Date of Electronic Publication: 2022 Oct 10.

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Abstract: Muscular dystrophies are a group of genetic muscular diseases characterized by impaired muscle regeneration, which leads to pathological inflammation that drives muscle wasting and eventually results in weakness, functional dependency, and premature de...

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Pharmacological inhibition of HDAC6 improves muscle phenotypes in dystrophin-deficient mice by downregulating TGF-β via Smad3 acetylation.

Publication Type: Academic Journal

Source(s): Nature communications [Nat Commun] 2022 Nov 19; Vol. 13 (1), pp. 7108. Date of Electronic Publication: 2022 Nov 19.

Abstract: The absence of dystrophin in Duchenne muscular dystrophy disrupts the dystrophin-associated glycoprotein complex resulting in skeletal muscle fiber fragility and atrophy, associated with fibrosis as well as microtubule and neuromuscular junction disorg...

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A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B.

Publication Type: Academic Journal

Source(s): International journal of molecular sciences [Int J Mol Sci] 2022 Aug 11; Vol. 23 (16). Date of Electronic Publication: 2022 Aug 11.

Abstract: Mutations in the DYSF gene, encoding dysferlin, are responsible for Limb Girdle Muscular Dystrophy type R2/2B (LGMDR2/2B), Miyoshi myopathy (MM), and Distal Myopathy with Anterior Tibialis onset (MDAT). The size of the gene and the reported inter and i...

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A pediatric case report and literature review of facioscapulohumeral muscular dystrophy type1.

Publication Type: Academic Journal

Source(s): Medicine [Medicine (Baltimore)] 2021 Nov 24; Vol. 100 (47), pp. e27907.

Authors:

Abstract: Rationale: Early-onset facioscapulohumeral muscular dystrophy (FSHD) is defined as facial weakness before the age of 5 and shoulder weakness before the age of 10. Early-onset facioscapulohumeral muscular dystrophy is relatively rare in the clinic. This...

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Pregabalin synchronizes the regeneration of nerve and muscle fibers optimizing the gait recovery of MDX dystrophic mice.

Publication Type: Academic Journal

Source(s): FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2022 Sep; Vol. 36 (9), pp. e22511.

Abstract: Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder induced by mutations in the dystrophin gene, leading to a degeneration of muscle fibers, triggering retrograde immunomodulatory, and degenerative events in the central nervous system. Th...

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[Magnetic resonance imaging for the diagnosis of muscular dystrophy].

Publication Type: Academic Journal

Source(s): Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2022 Nov 15; Vol. 24 (11), pp. 1231-1237.

Abstract: Objectives: To summarize the skeletal muscle magnetic resonance imaging (MRI) features of the lower limbs in common subtypes of muscular dystrophy (MD) and the experience in the application of MRI in the diagnosis of MD.Methods: A total of 48 children ...

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2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders.

Source(s): Heart rhythm [Heart Rhythm] 2022 Oct; Vol. 19 (10), pp. e61-e120. Date of Electronic Publication: 2022 Apr 29.

Abstract: This international multidisciplinary document is intended to guide electrophysiologists, cardiologists, other clinicians, and health care professionals in caring for patients with arrhythmic complications of neuromuscular disorders (NMDs). The document...

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Laryngeal Findings in Duchenne Muscular Dystrophy.

Publication Type: Academic Journal

Source(s): Journal of voice : official journal of the Voice Foundation [J Voice] 2022 Nov; Vol. 36 (6), pp. 880.e1-880.e4. Date of Electronic Publication: 2020 Sep 17.

Abstract: Introduction: Some studies have demonstrated that the intrinsic muscles of the larynx show no signs of damage to the muscle fiber and raise a possibility of preservation of the laryngeal muscles in muscular dystrophies. A cross-sectional study was impl...

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Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.

Publication Type: Academic Journal

Source(s): BMC pediatrics [BMC Pediatr] 2022 Oct 17; Vol. 22 (1), pp. 601. Date of Electronic Publication: 2022 Oct 17.

Abstract: Background: Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies. Mutation of the lamin A/C (LMNA) gene, which causes ...

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Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.

Publication Type: Academic Journal

Source(s): Physical therapy [Phys Ther] 2022 Oct 06; Vol. 102 (10).

Abstract: Objective: The North Star Assessment for limb-girdle type muscular dystrophies (NSAD), a clinician-reported outcome measure (ClinRO) of motor performance, was initially developed and validated for use in dysferlinopathy, an autosomal recessive form of ...

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