Aurelien Perrin
Montpellier, 34093, France
Last Updated: 09/26/2026
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Found 25 publications
Phenotype-specific muscle proteomic profiling in titinopathies.
Journal: Acta neuropathologica communications
Published: September 12, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.
Journal: Brain : a journal of neurology
Published: June 26, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 17, 2024
The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 17, 2024
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
Journal: International journal of molecular sciences
Published: October 31, 2024
Thermal Melting of a Vortex Lattice in a Quasi-Two-Dimensional Bose Gas.
Journal: Physical review letters
Published: April 05, 2024
Titin copy number variations associated with dominant inherited phenotypes.
Journal: Journal of medical genetics
Published: June 22, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
Journal: Human genomics
Published: December 01, 2022
Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care.
Journal: International journal of molecular sciences
Published: June 29, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
Journal: The Journal of molecular diagnostics : JMD
Published: February 17, 2022
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Journal: Genes
Published: January 05, 2022
Last Updated: 09/26/2026