Results 41 to 50 of about 1,440 (186)
Acta Neuropathologica Communications, 2023 Dysferlin is a Ca2+-activated lipid binding protein implicated in muscle membrane repair. Recessive variants in DYSF result in dysferlinopathy, a progressive muscular dystrophy.
Joe Yasa +13 more
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Dual Effects of Exercise in Dysferlinopathy [PDF]
The American Journal of Pathology, 2013 Dysferlinopathy refers to a group of autosomal recessive muscular dystrophies due to mutations in the dysferlin gene causing deficiency of a membrane-bound protein crucially involved in plasma membrane repair. The condition is characterized by marked clinical heterogeneity, the different phenotypes/modes of presentation being unrelated to the genotype.
Biondi, Olivier +7 more
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Data_Sheet_2_Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation.PDF [PDF]
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
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Indian Journal of Rheumatology, 2021 Proximal muscle weakness in children, as well as adults, can be the presenting feature of a wide range of diseases including but not limited to the idiopathic inflammatory myopathies, muscle dystrophies, metabolic, endocrine, and drug-induced myopathies.
Sujata Ganguly +3 more
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Table_2_Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation.docx [PDF]
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
В6.А-DYSFPRMD/GENEJ MICE AS A GENETIC MODEL OF DYSFERLINOPATHY
Фармация и фармакология (Пятигорск), 2022 The aim of the work was behavioral and pathomorphological phenotyping of the mice knockout for the DYSF gene, which plays an important role in the development and progression of dysferlinopathy.Materials and methods.
M. V. Korokin +15 more
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Data_Sheet_4_Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation.PDF [PDF]
, 2022 BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077) +7 more
core +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Dysferlinopathies are autosomal recessive muscular dystrophies resulting from defects in DYSF (MIM: 603009), which is located on chromosome 2p13 and encodes the dysferlin protein. Methods We performed exome sequencing and subsequent trio‐based
Huan Li, Liang Wang, Cheng Zhang
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Clinical Heterogeneity in Dysferlinopathy.
Internal Medicine, 2002 To clarify the clinical heterogeneity and genotype-phenotype correlation in dysferlinopathy.We evaluated clinical parameters of 74 dysferlinopathy patients with known dysferlin gene mutations who were previously reported in the literature.The age at onset varied from 12 to 59 years (mean 21.7 years).
UEYAMA, Hidetsugu +5 more
openaire +3 more sources
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy [PDF]
, 2018 Dysferlinopathy comprises a group of autosomal recessive muscular dystrophies caused by mutations in the DYSF gene. Due to the large size of the gene and its lack of mutational hot spots, analysis of the DYSF gene is time-consuming and laborious using ...
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core +3 more sources