ReviewCurrent neurology and neuroscience reports2010
Congenital muscular dystrophies: toward molecular therapeutic interventions.
Review in Current neurology and neuroscience reports, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 52 citations in OpenAlex.
- Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscle.JCI insight · 2025Article
- An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Investigating the correlation of muscle function tests and sarcomere organization in C. elegans.Skeletal muscle · 2021Article
- Fibrogenesis inFrontiers in molecular neuroscience · 2020Review
- Cellular rescue in a zebrafish model of congenital muscular dystrophy type 1A.NPJ Regenerative medicine · 2019Article
- Treating pediatric neuromuscular disorders: The future is now.American journal of medical genetics. Part A · 2018Review
- Article
- Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle.Magnetic resonance in medicine · 2014Article
- Article
- Dysregulation of matricellular proteins is an early signature of pathology in laminin-deficient muscular dystrophy.Skeletal muscle · 2014Article
- Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets.PloS one · 2013Article
- Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J) mouse model of congenital muscular dystrophy.PloS one · 2013Article
- Article
- The attachment disorders of muscle: failure to carb-load.The Journal of clinical investigation · 2012Article
- Article
- A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.PloS one · 2012Article
- ROCK1-directed basement membrane positioning coordinates epithelial tissue polarity.Development (Cambridge, England) · 2012Article
- Apoptosis inhibitors and mini-agrin have additive benefits in congenital muscular dystrophy mice.EMBO molecular medicine · 2011Article
- Peripheral nerve pathology, including aberrant Schwann cell differentiation, is ameliorated by doxycycline in a laminin-α2-deficient mouse model of congenital muscular dystrophy.Human molecular genetics · 2011Article
- The collagen VI-related myopathies: muscle meets its matrix.Nature reviews. Neurology · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Congenital muscular dystrophies (CMDs) are a clinically and genetically heterogeneous group of neuromuscular disorders that typically present at birth or in early infancy with hypotonia, weakness, and histologic evidence of a dystrophic myopathy. CMD biochemical types include various abnormalities of alpha-dystroglycan O-mannosyl glycosylation as well as defects in integrin matrix receptors, the extracellular matrix proteins laminin-alpha(2) and collagen VI, nuclear proteins such as lamin A/C, and a protein of the endoplasmic reticulum, selenoprotein N. Current therapies are directed mostly at supportive care; however, recent advances in biotechnology and increased knowledge of the pathophysiology underlying the various CMD types have helped identify potential therapeutic strategies directed at genetic, molecular, and biochemical pathways involved in these disorders. In this article, we review our current understanding of the molecular pathogenesis of several CMD types and how these mechanisms may be therapeutically targeted.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.