Marc Bartoli

This study shows that overexpressing wild-type MFN2 via gene therapy improves CMT2A in mice, restoring ER-mitochondria contacts and motor function even after symptom onset.

The paper identifies a zinc-binding site in the luminal domain of STIM1 that promotes clustering and is essential for calcium influx activation.

The paper analyzes genes mutated in muscular dystrophies to identify functional patterns linked to distal or proximal muscle weakness distribution.

The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.

This study identifies FGD4/FRABIN's role in regulating NRG1/ErbB2/3 signaling and myelination in CMT4H, showing that restoring this pathway with niacin reduces myelin outfoldings.

The paper investigates hiPSC-derived motor neurons with VRK1 mutations, finding altered action potential waveforms and shorter axonal initial segments, suggesting a link to motor neuron disease.

The paper systematically assesses the splicing impact of deep exonic missense variants in CAPN3 using minigene assays, revealing that eight variants disrupt splicing and highlight limitations in current computational tools.

CovReport provides a user-friendly tool for generating sequencing coverage summaries to aid in diagnostic reporting and interpretation.