Francesca Bertola

Monza, Italy

Last Updated: 09/26/2026

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Found 18 publications

Pilot study on esketamine response in treatment-resistant depression: impact of pharmacogenetic, clinical, and demographic variables.

Pilot study on esketamine response in treatment-resistant depression: impact of pharmacogenetic, clinical, and demographic variables.

Journal: Frontiers in pharmacology

Published: January 08, 2026

Early Levodopa-induced dyskinesias in SPG7-linked parkinsonism: a case report and literature review.

Early Levodopa-induced dyskinesias in SPG7-linked parkinsonism: a case report and literature review.

Journal: Parkinsonism & related disorders

Published: December 31, 2025

A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications.

A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications.

Journal: BMC pulmonary medicine

Published: July 18, 2025

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.

Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.

Journal: Neurogenetics

Published: February 15, 2024

A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.

A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.

Journal: American journal of human genetics

Published: February 14, 2023

Possible Use of Minocycline in Adjunction to Intranasal Esketamine for the Management of Difficult to Treat Depression following Extensive Pharmacogenomic Testing: Two Case Reports.

Possible Use of Minocycline in Adjunction to Intranasal Esketamine for the Management of Difficult to Treat Depression following Extensive Pharmacogenomic Testing: Two Case Reports.

Journal: Journal of personalized medicine

Published: August 16, 2022

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Journal: Genes

Published: October 21, 2021

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Journal: Italian journal of pediatrics

Published: November 17, 2018

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Journal: European journal of pediatrics

Published: October 18, 2018

Forgetful and robotic: tap on a gene!

Forgetful and robotic: tap on a gene!

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: September 29, 2014

A subset of genetic susceptibility variants for colorectal cancer also has prognostic value.

A subset of genetic susceptibility variants for colorectal cancer also has prognostic value.

Journal: The pharmacogenomics journal

Published: September 29, 2014

First report of PSEN2 mutation presenting as posterior cortical atrophy.

First report of PSEN2 mutation presenting as posterior cortical atrophy.

Journal: Alzheimer disease and associated disorders

Published: July 11, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026