Martin Krahn
Centre De Référence De Pathologie Neuromusculaire Paris Est
Estonia
Estonia
Last Updated: 09/26/2026
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Found 65 publications
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
French National Protocol for Diagnosis and Care of Calpainopathy (LGMD R1/LGMD D4): consensus guidelines for clinical practice.
Journal: Orphanet journal of rare diseases
Published: December 16, 2025
Phenotype-specific muscle proteomic profiling in titinopathies.
Journal: Acta neuropathologica communications
Published: September 12, 2025
Limb Girdle Muscular Dystrophy Associated With TRIM32 Variants: A National Cohort Study.
Journal: Muscle & nerve
Published: September 08, 2025
Analysis of Exon Skipping Applicability for Dysferlinopathies.
Journal: Cells
Published: December 08, 2024
The clinical actionability of genes: A concept for rare diseases and the first objective assessment for myopathies
Journal: Medecine sciences : M/S
Published: November 18, 2024
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
Journal: International journal of molecular sciences
Published: October 31, 2024
Interpretation of results from high-throughput sequencing for genetic diseases: implementation of national homogenization in France
Journal: Medecine sciences : M/S
Published: October 25, 2024
Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.
Journal: Clinical immunology (Orlando, Fla.)
Published: March 14, 2024
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Journal: Journal of neurology
Published: December 21, 2023
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.
Journal: Biomedicines
Published: April 01, 2023
Last Updated: 09/26/2026