Denis Furling

Paris, France

Last Updated: 09/26/2026

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Found 60 publications

Toward the clinical application of long-read sequencing in repeat-expansion disorders.

Toward the clinical application of long-read sequencing in repeat-expansion disorders.

Journal: Nature genetics

Published: September 03, 2025

MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1.

MBNL depletion drives stem cell fusion and immature myonuclear states in myotonic dystrophy type 1.

Journal: Nature communications

Published: August 06, 2025

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1.

Alternative Splicing of SORBS1 Affects Neuromuscular Junction Integrity in Myotonic Dystrophy Type 1.

Journal: Journal of cachexia, sarcopenia and muscle

Published: March 01, 2025

Small nucleolar RNAs promote the restoration of muscle differentiation defects in cells from myotonic dystrophy type 1.

Small nucleolar RNAs promote the restoration of muscle differentiation defects in cells from myotonic dystrophy type 1.

Journal: Nucleic acids research

Published: July 15, 2024

MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination.

MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination.

Journal: Brain : a journal of neurology

Published: April 26, 2024

Treadmill running and mechanical overloading improved the strength of the plantaris muscle in the dystrophin-desmin double knockout (DKO) mouse.

Treadmill running and mechanical overloading improved the strength of the plantaris muscle in the dystrophin-desmin double knockout (DKO) mouse.

Journal: The Journal of physiology

Published: February 14, 2024

Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy.

Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy.

Journal: PloS one

Published: July 06, 2023

Valproic acid reduces muscle susceptibility to contraction-induced functional loss but increases weakness in two murine models of Duchenne muscular dystrophy.

Valproic acid reduces muscle susceptibility to contraction-induced functional loss but increases weakness in two murine models of Duchenne muscular dystrophy.

Journal: Clinical and experimental pharmacology & physiology

Published: December 14, 2022

Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells.

Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells.

Journal: Molecular therapy. Nucleic acids

Published: August 26, 2022

Dystrophin Restoration after Adeno-Associated Virus U7-Mediated Dmd Exon Skipping Is Modulated by Muscular Exercise in the Severe D2-Mdx Duchenne Muscular Dystrophy Murine Model.

Dystrophin Restoration after Adeno-Associated Virus U7-Mediated Dmd Exon Skipping Is Modulated by Muscular Exercise in the Severe D2-Mdx Duchenne Muscular Dystrophy Murine Model.

Journal: The American journal of pathology

Published: June 13, 2022

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing.

Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing.

Journal: The Journal of molecular diagnostics : JMD

Published: April 05, 2022

How alternative splicing contributes to clathrin's structural plasticity

How alternative splicing contributes to clathrin's structural plasticity

Journal: Medecine sciences : M/S

Published: December 20, 2021

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Last Updated: 09/26/2026