Customize your search results with filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 03/06/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 436 publications
Generation of a human induced pluripotent stem cell line (CRICKi021-A) from a patient with Ullrich congenital muscular dystrophy carrying a pathogenic mutation in the COL6A1 gene.
Journal: Stem cell research
Published: October 11, 2024
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.
Journal: Biomolecules
Published: September 19, 2024
The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.
Journal: International journal of molecular sciences
Published: August 28, 2024
A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.
Journal: Molecular genetics & genomic medicine
Published: August 05, 2024
Distinct muscle regenerative capacity of human induced pluripotent stem cell-derived mesenchymal stromal cells in Ullrich congenital muscular dystrophy model mice.
Journal: Stem cell research & therapy
Published: July 17, 2024
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Journal: Journal of molecular neuroscience : MN
Published: June 30, 2024
Characterization of Proteome Changes in Aged and Collagen VI-Deficient Human Pericyte Cultures.
Journal: International journal of molecular sciences
Published: May 17, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Journal: medRxiv : the preprint server for health sciences
Published: April 08, 2024
A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers-Danlos syndrome: A case report and literature review.
Journal: Neuropathology and applied neurobiology
Published: March 31, 2024
Apelin stimulation of the vascular skeletal muscle stem cell niche enhances endogenous repair in dystrophic mice.
Journal: Science translational medicine
Published: March 20, 2024
Last Updated: 03/06/2025