Results 11 to 20 of about 365 (121)
Facioscapulohumeral Muscular Dystrophy [PDF]
Neurologic Clinics, 2014 This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD).FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4.
Jeffrey M Statland, Rabi Tawil
exaly +6 more sources
Baroreflex sensitivity in facioscapulohumeral muscular dystrophy
Physiological Reports, 2022 Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss.
Miguel Anselmo +7 more
doaj +3 more sources
Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy
Trends in Molecular Medicine, 2021 Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying genetics and poor mechanistic understanding has caused a bottleneck in therapeutic development.
Justin Cohen +2 more
exaly +4 more sources
A review of Genetic Etiology and Emerging Molecular Therapies for FSHD in Preclinical Studies [PDF]
Reviews in Clinical Medicine, 2021 Facioscapulohumeral muscular dystrophy is one of the most common musculoskeletal diseases with a considerable burden. Most of the affected individuals experience muscle weakness as the common muscular symptom.
Mohammad Reza Seyyed taghia +4 more
doaj +1 more source
Facioscapulohumeral muscular dystrophy [PDF]
Current Opinion in Neurology, 2012 In recent years, we have seen remarkable progress in our understanding of the disease mechanism underlying facioscapulohumeral muscular dystrophy (FSHD). The purpose of this review is to provide a comprehensive overview of our current understanding of the disease mechanism and to discuss the observations supporting the possibility of a developmental ...
Maarel, S.M. van der +4 more
+7 more sources
Road to conception and successful delivery for a facioscapulohumeral muscular dystrophy patient
SAGE Open Medical Case Reports, 2022 Facioscapulohumeral muscular dystrophy is a muscular dystrophy affecting all ages, primarily people in the second decade. The disease is initially presented with face, shoulder girdle, and upper arm involvement, followed by lower extremity muscle ...
Olga Triantafyllidou +3 more
doaj +1 more source
Facioscapulohumeral Muscular Dystrophy
Continuum, 2022 This article reviews the current knowledge on the clinical characteristics and disease mechanism of facioscapulohumeral muscular dystrophy (FSHD), as well as advances in targeted therapy development.FSHD has a wide range of severity, yet a distinct phenotype characterized by weakness of the facial, shoulder, and upper arm muscles, followed by weakness ...
Mul, K., Mul, K.
openaire +3 more sources
Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
Molecular Therapy: Methods & Clinical Development, 2020 Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou +1 more
doaj +1 more source
RNA Biology, 2022 Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri +17 more
doaj +1 more source
Disease Models & Mechanisms, 2021 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Andreia Nunes is first author on ‘ Identification
doaj +1 more source