Results 11 to 20 of about 304,862 (304)

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

open access: yes, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Liu, X   +3 more
core   +7 more sources

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

open access: yesCommunications Biology, 2022
A method to isolate and sequence individual nuclei from human and mouse muscle biopsies provides further insight into the mechanisms of dystrophin loss and repair, in the context of Duchenne muscular dystrophy.
Deirdre D. Scripture-Adams   +12 more
doaj   +1 more source

Triazine-cored polymeric vectors for antisense oligonucleotide delivery in vitro and in vivo

open access: yesJournal of Nanobiotechnology, 2020
Background The polymer-based drug/gene delivery is promising for the treatment of inherent or acquire disease, because of the polymer’s structural flexibility, larger capacity for therapeutic agent, low host immunogenicity and less cost.
Mingxing Wang   +5 more
doaj   +1 more source

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

open access: yesCell Death and Disease, 2023
Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet   +21 more
doaj   +1 more source

Muscular Dystrophy [PDF]

open access: yesPediatrics In Review, 2000
Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation.
  +7 more sources

Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy

open access: yesOrphanet Journal of Rare Diseases, 2019
Background Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their ...
Brian Denger   +5 more
doaj   +1 more source

DUX4 Role in Normal Physiology and in FSHD Muscular Dystrophy

open access: yesCells, 2021
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4) has gone from being an obscure entity to being a key factor in important physiological and pathological processes.
Emanuele Mocciaro   +4 more
doaj   +1 more source

Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]

open access: yes, 2011
Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core   +1 more source

Facioscapulohumeral Muscular Dystrophy

open access: yes, 2022
Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities.
Pakula, Anna   +3 more
core   +1 more source

Duchenne muscular dystrophy and brain function [PDF]

open access: yes, 2012
Muscular dystrophies have historically been characterised according to clinical criteria, however in the genomic age the muscular dystrophies are now subdivided into groups according to the primary gene defect.
Morley, John W. (R12018)   +2 more
core   +2 more sources

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