Xaviere Lornage
Paris, France
Last Updated: 09/26/2026
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Found 28 publications
Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin-Related Congenital Myopathy.
Journal: Human mutation
Published: January 25, 2026
MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1.
Journal: Nature communications
Published: August 06, 2025
MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination.
Journal: Brain : a journal of neurology
Published: April 26, 2024
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Journal: Nature communications
Published: April 28, 2021
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Journal: Neurogenetics
Published: October 14, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Journal: American journal of human genetics
Published: June 15, 2020
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
Journal: PloS one
Published: March 27, 2020
Asymmetric muscle weakness due to ACTA1 mosaic mutations.
Journal: Neurology
Published: March 13, 2020
A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers.
Journal: Journal of neuropathology and experimental neurology
Published: January 31, 2020
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation.
Journal: Annals of neurology
Published: December 11, 2019
Last Updated: 09/26/2026