Collagen VI-Related Myopathy Latest Advances

iPS cell-based therapy for muscular disorders

Journal: Rinsho shinkeigaku = Clinical neurology

Published: September 28, 2025

Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.

Journal: Reumatologia clinica

Published: September 18, 2025

Comorbid autosomal dominant LDLR- and collagen VI-related disorders.

Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Published: July 20, 2025

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Journal: Biomolecules

Published: July 14, 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

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iPS cell-based therapy for muscular disorders

iPS cell-based therapy for muscular disorders

Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.

Diagnostic challenge: Bethlem myopathy mimicking inflammatory myopathy.

Comorbid autosomal dominant LDLR- and collagen VI-related disorders.

Comorbid autosomal dominant LDLR- and collagen VI-related disorders.

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence.

A Challenge in Perioperative Anesthetic Management: A Case Report of an Infant With Concurrent Ullrich Congenital Muscular Dystrophy and Pierre Robin Sequence.

Autosomal recessive Bethlem myopathy: a 30-year journey.

Autosomal recessive Bethlem myopathy: a 30-year journey.

Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathies.

Defective collagen VI-NG2 axis impairs pericyte balance between proliferation and quiescence in COLVI-related myopathies.

Psychological aspects in neuromuscular patients: case series.

Psychological aspects in neuromuscular patients: case series.

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3.

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala.

Expanding the Clinico-Genetic Scope of Bethlem Myopathy: A Family of Five Patients from Kerala.

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.

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.

Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies.

Collablots: Quantification of Collagen VI Levels and Its Structural Disorganisation in Cell Cultures From Patients With Collagen VI-Related Dystrophies.