Hortense De Calbiac
Paris, France
Last Updated: 09/26/2026
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Found 13 publications
Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1.
Journal: Journal of cachexia, sarcopenia and muscle
Published: March 01, 2025
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.
Journal: Autophagy reports
Published: December 26, 2024
TBK1 is involved in programmed cell death and ALS-related pathways in novel zebrafish models.
Journal: Cell death discovery
Published: September 23, 2024
Circulatory response to exercise relative to oxygen uptake assessed in the follow-up of patients with fatty acid beta-oxidation disorders.
Journal: Journal of inherited metabolic disease
Published: August 05, 2024
Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases.
Journal: Journal of inherited metabolic disease
Published: January 09, 2024
Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Journal: Nature communications
Published: December 04, 2023
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Journal: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
Published: March 09, 2023
Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy.
Journal: Journal of visualized experiments : JoVE
Published: November 08, 2021
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Journal: Nature communications
Published: August 08, 2021
Autophagy and ALS: mechanistic insights and therapeutic implications.
Journal: Autophagy
Published: May 31, 2021
Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.
Journal: Annals of clinical and translational neurology
Published: January 17, 2018
Last Updated: 09/26/2026