Results 21 to 30 of about 275,647 (194)

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy: the road to targeted therapies

Nature Reviews Neurology, 2023
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy (FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in skeletal muscle, which encodes a transcription factor that is active in early ...
Mara S. Tihaya, K. Mul, J. Balog, J. D. de Greef, S. Tapscott, R. Tawil, J. Statland, S. M. van der Maarel   +7 more
semanticscholar   +1 more source

Five‐year follow‐up study on quantitative muscle magnetic resonance imaging in facioscapulohumeral muscular dystrophy: The link to clinical outcome

Journal of Cachexia, Sarcopenia and Muscle, 2023
It is unclear how changes in quantitative muscle magnetic resonance imaging (MRI) relate to changes in clinical outcome in facioscapulohumeral muscular dystrophy (FSHD), although this information is crucial for optimal use of MRI as imaging biomarker in ...
S. Vincenten, K. Mul, D. van As, Julia J. Jansen, L. Heskamp, A. Heerschap, B. V. van Engelen, N. Voermans   +7 more
semanticscholar   +1 more source

Facioscapulohumeral muscular dystrophy

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis.
Sacconi, Sabrina, Salviati, Leonardo, Desnuelle, Claude   +2 more
openaire   +5 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, Shandon Coffman, Mia Larson, Kathryn Vera, Emma Lee, Mary McConville, Michael Kyba, Manda L. Keller‐Ross   +7 more
doaj   +1 more source

Reprogramming of adult human peripheral blood mononuclear cells into hiPSCs from two patients with facioscapulohumeral muscular dystrophy type 1

Stem Cell Research, 2022
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophy. FSHD type 1 (FSHD1) is caused by multicopy contraction of D4Z4 repeats on chromosome 4q35.
Fuze Zheng, Long Chen, Liangliang Qiu, Lin Lin, Xin Lin, Qifang He, Lili Wang, Zhixian Ye, Minting Lin, Zhiqiang Wang   +9 more
doaj   +1 more source

Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping

Neurology: Genetics, 2023
Background and Objectives Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common muscular dystrophy in the general population and is characterized by progressive and often asymmetric muscle weakness of the face, upper extremities,
Naga M. Guruju, Vanessa Jump, R. Lemmers, S. M. van der Maarel, Ruby Liu, B. Nallamilli, S. Shenoy, A. Chaubey, Pratik Koppikar, Rajiv Rose, Satish Khadilkar, Madhuri Hegde   +11 more
semanticscholar   +1 more source

Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy

Environmental Health and Preventive Medicine, 2014
ObjectivesMuscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic disorders. In clinical tests for these diseases, creatine kinase (CK) is generally used as diagnostic blood-based biomarker.
Y. Matsuzaka, Soichiro Kishi, Y. Aoki, H. Komaki, Y. Oya, Shin-ichi Takeda, K. Hashido   +6 more
semanticscholar   +1 more source

The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes.

Neuromuscular Disorders, 2023
Facioscapulohumeral dystrophy (FSHD) is the second most prevalent inherited muscular disorder and currently lacks a pharmaceutical treatment. The Dutch FSHD Registry was initiated in 2015 as a result of an international collaboration on trial readiness ...
J. Kools, J. C. Deenen, A. Blokhuis, André L. M. Verbeek, N. Voermans, B. V. van Engelen   +5 more
semanticscholar   +1 more source

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy.

Neuromuscular Disorders, 2023
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder caused by abnormal expression of the DUX4 protein, commonly resulting from a contraction of D4Z4 repeat units with the presence of a polyadenylation (polyA) signal.
Patra Yeetong, P. Kulsirichawaroj, T. Kumutpongpanich, C. Srichomthong, Phichittra Od-ek, Supphakorn Rakwongkhachon, Titaporn Thamcharoenvipas, O. Sanmaneechai, M. Pongpanich, Vorasuk Shotelersuk   +9 more
semanticscholar   +1 more source