Marc A. Bartoli

Centre De Référence De Pathologie Neuromusculaire Paris Est
Estonia

Last Updated: 09/26/2026

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Found 71 publications

Restoring the interplay between the endoplasmic reticulum and mitochondria by gene therapy improves Charcot-Marie-Tooth type 2A disease.

Restoring the interplay between the endoplasmic reticulum and mitochondria by gene therapy improves Charcot-Marie-Tooth type 2A disease.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 16, 2026

Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.

Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: July 28, 2025

Protocol for monitoring cytoplasmic Ca2+ dynamics using Fura Red-AM on a Zeiss Axio Observer microscope.

Protocol for monitoring cytoplasmic Ca2+ dynamics using Fura Red-AM on a Zeiss Axio Observer microscope.

Journal: STAR protocols

Published: July 24, 2025

Zinc binding to a conserved motif in STIM1 induces clustering and SOCE activation.

Zinc binding to a conserved motif in STIM1 induces clustering and SOCE activation.

Journal: Cell communication and signaling : CCS

Published: July 23, 2025

Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.

Store-operated calcium entry dysfunction in CRAC channelopathy: Insights from a novel STIM1 mutation.

Journal: Clinical immunology (Orlando, Fla.)

Published: March 14, 2024

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution.

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution.

Journal: Scientific reports

Published: January 18, 2024

Editorial: Personalized medicine for neuromuscular disorders.

Editorial: Personalized medicine for neuromuscular disorders.

Journal: Frontiers in cell and developmental biology

Published: October 27, 2023

White and blue fingers

White and blue fingers

Journal: La Revue de medecine interne

Published: July 12, 2023

Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).

Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009-2019).

Journal: Revue neurologique

Published: May 16, 2023

Knockdown of calpain1 in lumbar motoneurons reduces spasticity after spinal cord injury in adult rats.

Knockdown of calpain1 in lumbar motoneurons reduces spasticity after spinal cord injury in adult rats.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: April 20, 2023

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.

A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy.

Journal: Biomedicines

Published: April 01, 2023

Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation.

Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: March 14, 2023

Showing 1-12 of 71

Last Updated: 09/26/2026