Results 81 to 90 of about 57,206 (164)

An integrated approach in a case of facioscapulohumeral dystrophy

open access: yes, 2014
Background: Muscle fatigue, weakness and atrophy are basilar clinical features that accompany facioscapulohumeral dystrophy (FSHD) the third most common muscular dystrophy. No therapy is available for FSHD.
Tupler R   +7 more
core   +1 more source

Facioscapulohumeral Muscular Dystrophy (FSHD)

open access: yes
This is an introduction to Facioscapulohumeral Muscular Dystrophy (FSHD) and its causes, presentation, diagnosis, treatment, and ongoing related research.FSHD Global Research Foundation. (n.d.). What is FSHD? Retrieved from https://fshdglobal.org/what-is-
Rohith Erukulla; Brooke Johnson
core  

Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy

open access: yesStem Cell Research
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically complex condition marked by progressive skeletal muscle weakness, primarily affecting the face, shoulders, and upper arms.
Ravichandra Venkateshappa   +5 more
doaj   +1 more source

Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy

open access: yes, 2017
International audienceObjectives: We conducted a retrospective study to characterize the cardiac complications in patients with genetically confirmed type 1 facioscapulohumeral dystrophy.
Bedat-Millet, Anne-Laure   +19 more
core   +1 more source

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy

open access: yesOpen Medicine
Statin use can lead to various muscle-related issues, including benign creatine kinase (CK) elevations, myalgias, toxic myopathies, rhabdomyolysis, and immune-mediated necrotizing myositis (IMNM), which primarily affects older males.
Braun Andreas Albert   +5 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy

open access: yes, 2004
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant, inherited disorder characterized by progressive muscle weakness, including atrophy of the facial muscles, upper arm, and shoulder girdle.
Upadhyaya, Meena, Cooper, David Neil
core   +1 more source

Complex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy. [PDF]

open access: yesNeurol Genet, 2023
Delourme M   +9 more
europepmc   +1 more source

Studies on muscular dystrophy associated genes [PDF]

open access: yes, 2007
Muscular dystrophy is a collective group of genetic disorder that results in progressive wasting of skeletal muscle. Dysferlin, the gene responsible for Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi Myopathy (MM) was found to be a member of
Bakir, Hadil
core  

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