Nathalie Palot-Bonello

Marseille, 13005, France

Last Updated: 09/26/2026

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Found 45 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

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Genetics and cancer-related Laminopathies: Involvement of Lamins and Lamin-Chromatin Interactions.

Journal: Sub-cellular biochemistry

Published: September 26, 2025

A new unstable haemoglobin, Hb Alger, causes a transfusion-dependent anaemia in early childhood.

A new unstable haemoglobin, Hb Alger, causes a transfusion-dependent anaemia in early childhood.

Journal: British journal of haematology

Published: April 25, 2025

Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.

Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 16, 2025

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.

Journal: European journal of neurology

Published: April 08, 2025

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

Journal: Annals of neurology

Published: April 01, 2025

Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.

Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.

Journal: European journal of endocrinology

Published: October 09, 2024

A novel red blood cell deformability biomarker is associated with hemolysis and vaso-occlusive crises in sickle cell disease.

A novel red blood cell deformability biomarker is associated with hemolysis and vaso-occlusive crises in sickle cell disease.

Journal: Scientific reports

Published: August 10, 2024

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

Journal: European journal of neurology

Published: May 03, 2024

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).

Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).

Journal: Genes

Published: March 29, 2024

Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions.

Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions.

Journal: Muscle & nerve

Published: February 22, 2024

Clinical and genetic features of patients suffering from CMT4J.

Clinical and genetic features of patients suffering from CMT4J.

Journal: Journal of neurology

Published: July 25, 2023

Showing 1-12 of 45

Last Updated: 09/26/2026