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Last Updated: 10/31/2025
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Found 453 publications
iPS cell-based therapy for muscular disorders
Journal: Rinsho shinkeigaku = Clinical neurology
Published: September 28, 2025
A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence.
Journal: Cureus
Published: April 13, 2025
Autosomal recessive Bethlem myopathy: a 30-year journey.
Journal: Journal of neurology
Published: April 09, 2025
Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathies.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: March 24, 2025
Psychological aspects in neuromuscular patients: case series.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: March 24, 2025
Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.
Journal: Animal models and experimental medicine
Published: February 25, 2025
Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala.
Journal: Annals of Indian Academy of Neurology
Published: February 14, 2025
Multimodal Evaluation of Bethlem Myopathy with the c.788G > A Variant in the COL6A1 Gene: a case report with genetic, ultrasonographic, and structural-functional discordance correlations.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: February 04, 2025
Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies.
Journal: Neuropathology and applied neurobiology
Published: December 06, 2024
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
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Journal: Brain : a journal of neurology
Published: October 03, 2024
Last Updated: 10/31/2025