Stefania Magri

Milan, Italy

Last Updated: 09/26/2026

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Found 67 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

Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patient.

Functional validation of the novel KIF5A p.R17Q VUS reveals defective axonal transport in iPSC-motoneurons from a SPG10 patient.

Journal: Frontiers in genetics

Published: December 23, 2025

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

Teaching NeuroImage: Distinctive White Matter Abnormalities in KIF1C Pathogenic Variants.

Teaching NeuroImage: Distinctive White Matter Abnormalities in KIF1C Pathogenic Variants.

Journal: Neurology

Published: August 07, 2025

Correlation Networks To Uncover Changes in Protein Relationships in Spinocerebellar Ataxia Type 2 and Cerebellar Multiple System Atrophy.

Correlation Networks To Uncover Changes in Protein Relationships in Spinocerebellar Ataxia Type 2 and Cerebellar Multiple System Atrophy.

Journal: Journal of proteome research

Published: June 18, 2025

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

Journal: NeuroSci

Published: June 10, 2025

Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.

Phenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies.

Journal: Neurology. Genetics

Published: May 02, 2025

One gene, many phenotypes: the role of KIF5A in neurodegenerative and neurodevelopmental diseases.

One gene, many phenotypes: the role of KIF5A in neurodegenerative and neurodevelopmental diseases.

Journal: Cell communication and signaling : CCS

Published: April 18, 2025

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.

Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.

Journal: Journal of neurology

Published: February 13, 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

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Last Updated: 09/26/2026