Stephanie Bigou

Paris, France

Last Updated: 09/26/2026

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Found 11 publications

Generation of retinitis pigmentosa patient-derived hiPSC lines (IDVi007-A, IDVi007-B) carrying the RHO c.68C > A variant (p.P23H) and CRISPR/Cas9-corrected isogenic hiPSC lines (IDVi007-A-1, IDVi007-A-2, IDVi007-A-3).

Generation of retinitis pigmentosa patient-derived hiPSC lines (IDVi007-A, IDVi007-B) carrying the RHO c.68C > A variant (p.P23H) and CRISPR/Cas9-corrected isogenic hiPSC lines (IDVi007-A-1, IDVi007-A-2, IDVi007-A-3).

Journal: Stem cell research
Published: May 20, 2026

Generation of human P347L RHO-associated retinitis pigmentosa iPSC lines by a mutation insertion in the RHODOPSIN gene carrying the RHO c.1040C > T variant using CRISPR/Cas9.

Generation of human P347L RHO-associated retinitis pigmentosa iPSC lines by a mutation insertion in the RHODOPSIN gene carrying the RHO c.1040C > T variant using CRISPR/Cas9.

Journal: Stem cell research
Published: September 04, 2025

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: Nature communications
Published: February 06, 2024

Neurofilament accumulations in amyotrophic lateral sclerosis patients' motor neurons impair axonal initial segment integrity.

Neurofilament accumulations in amyotrophic lateral sclerosis patients' motor neurons impair axonal initial segment integrity.

Journal: Cellular and molecular life sciences : CMLS
Published: November 04, 2022

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

Journal: Nature communications
Published: July 10, 2022

Does the Real Business Cycle Help Forecast the Financial Cycle?

Does the Real Business Cycle Help Forecast the Financial Cycle?

Journal: Computational economics
Published: August 30, 2021

Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.

Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10S59L/+ mouse.

Journal: Acta neuropathologica
Published: December 14, 2018

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.

The endoplasmic reticulum-mitochondria interface is perturbed in PARK2 knockout mice and patients with PARK2 mutations.

Journal: Human molecular genetics
Published: March 04, 2016

Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice.

Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice.

Journal: Molecular genetics and metabolism
Published: September 27, 2014

Combination of hypoglossal-facial nerve surgical reconstruction and neurotrophin-3 gene therapy for facial palsy.

Combination of hypoglossal-facial nerve surgical reconstruction and neurotrophin-3 gene therapy for facial palsy.

Journal: Journal of neurosurgery
Published: April 16, 2013

GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease.

GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease.

Journal: Human molecular genetics
Published: December 14, 2011
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Last Updated: 09/26/2026