Francesca Balistreri

Milan, Italy

Last Updated: 09/26/2026

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Found 12 publications

Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature.

Clinical and pathological findings in two Italian siblings of Romani ancestry with charcot-marie-tooth type 4D and review of the current literature.

Journal: Journal of neuromuscular diseases

Published: May 06, 2026

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.

Journal: medRxiv : the preprint server for health sciences

Published: November 24, 2025

Neurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 Deficiency.

Neurotrophic Modulation Restores Motor and Developmental Defects in Zebrafish Models of ints11 Deficiency.

Journal: Journal of neurochemistry

Published: October 29, 2025

Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy.

Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: January 21, 2025

A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1.

A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1.

Journal: Journal of neurogenetics

Published: November 27, 2024

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: March 18, 2024

DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.

DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.

Journal: European journal of neurology

Published: November 26, 2021

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Journal: Annals of clinical and translational neurology

Published: October 31, 2020

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease.

Journal: Journal of the peripheral nervous system : JPNS

Published: July 22, 2020

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Journal: Annals of neurology

Published: November 28, 2019

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.

Journal: Journal of the peripheral nervous system : JPNS

Published: November 05, 2018

Hepatitis C Virus Deletion Mutants Are Found in Individuals Chronically Infected with Genotype 1 Hepatitis C Virus in Association with Age, High Viral Load and Liver Inflammatory Activity.

Hepatitis C Virus Deletion Mutants Are Found in Individuals Chronically Infected with Genotype 1 Hepatitis C Virus in Association with Age, High Viral Load and Liver Inflammatory Activity.

Journal: PloS one

Published: July 28, 2015

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Last Updated: 09/26/2026