Valerie Biancalana

Strasbourg, France

Last Updated: 09/26/2026

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Found 53 publications

Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.

Large phenotypic variability with severe respiratory involvement in MEGF10-related myopathies: Description of three cases.

Journal: Journal of neuromuscular diseases

Published: July 23, 2026

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

Journal: Journal of neuromuscular diseases

Published: July 09, 2026

From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.

From bedside to bench: A multimodal approach uncovering the molecular basis of the MYBPC1-linked Myotrem myopathy.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 01, 2026

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.

Journal: Human mutation

Published: January 25, 2026

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Journal: Journal of neuromuscular diseases

Published: November 18, 2025

Phenotype-specific muscle proteomic profiling in titinopathies.

Phenotype-specific muscle proteomic profiling in titinopathies.

Journal: Acta neuropathologica communications

Published: September 12, 2025

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Journal: medRxiv : the preprint server for health sciences

Published: January 13, 2025

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Journal: European journal of human genetics : EJHG

Published: January 07, 2025

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Journal: Acta neuropathologica communications

Published: October 16, 2024

Phenotype variability and natural history of X-linked myopathy with excessive autophagy.

Phenotype variability and natural history of X-linked myopathy with excessive autophagy.

Journal: Journal of neurology

Published: December 21, 2023

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.

Journal: Genome medicine

Published: October 30, 2023

New mutations identified in a case of Glycogenin-1 deficiency.

New mutations identified in a case of Glycogenin-1 deficiency.

Journal: Molecular genetics and metabolism reports

Published: August 26, 2023

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Last Updated: 09/26/2026