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Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy

30 September 24 Articles ، Heike Kolbel ، Tobias Ruck Thrombospondin-4 as a CSF biomarker for SMA ، Cerebrospinal fluid biomarkers in pediatric SMA ، Nusinersen therapy response tracking in SMA ، Proteomic analysis of CSF in spinal muscular atrophy ، TSP4 levels in symptomatic and pre-symptomatic SMA ، Biomarker validation for SMA therapy monitoring ، Enzyme-linked immunosorbent assay (ELISA) for TSP4
Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy
This study explores Thrombospondin-4 as a cerebrospinal fluid biomarker for therapy response in pediatric SMA patients, highlighting its potential for treatment monitoring.
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A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

28 August 24 Articles ، Volker Straub ، Peter Meinke ، Alastair R.W. Kerr ، Rafal Czapiewski ، Jose I. de las Heras ، Benedikt Schoser ، Heike Kolbel ، Eric C. Schirmer Emery-Dreifuss muscular dystrophy genetics ، Gene misregulation in EDMD ، Multistage sequencing for neuromuscular disorders ، Nuclear envelope proteins and muscular dystrophy ، Pathomechanisms of Emery-Dreifuss dystrophy ، Exome sequencing for dystrophy diagnosis ، Genetic heterogeneity in muscular dystrophies
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism
This study utilizes a multistage sequencing strategy to uncover novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as a key pathomechanism.
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