Elena Panzeri

Via D. L. Monza 20, Lecco
Bosisio Parini, 23842, Italy

Last Updated: 09/26/2026

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Found 35 publications

Apoptosis and motor deficits in SPG76 hereditary spastic paraplegia: Calpain 2 inhibition as therapeutic strategy.

Apoptosis and motor deficits in SPG76 hereditary spastic paraplegia: Calpain 2 inhibition as therapeutic strategy.

Journal: Pharmacological research

Published: December 18, 2025

Naringenin and SMER28 target lysosomal reformation and rescue SPG11 and SPG15 hereditary spastic paraplegia phenotypes.

Naringenin and SMER28 target lysosomal reformation and rescue SPG11 and SPG15 hereditary spastic paraplegia phenotypes.

Journal: Pharmacological research

Published: January 14, 2025

A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients.

A Pilot Phase 2 Randomized Trial to Evaluate the Safety and Potential Efficacy of Etravirine in Friedreich Ataxia Patients.

Journal: Children (Basel, Switzerland)

Published: July 04, 2024

A new variant confirms GNAI2 as a rare cause of periventricular nodular heterotopia.

A new variant confirms GNAI2 as a rare cause of periventricular nodular heterotopia.

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

Published: April 16, 2024

Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.

Clinical phenotype and next-generation sequencing as essential tools for the diagnosis of a rare form of congenital myopathy due to a TRIP4 intragenic deletion.

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

Published: August 13, 2023

A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.

A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.

Journal: Neuropediatrics

Published: June 21, 2023

Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Journal: Journal of neurology

Published: February 16, 2023

Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.

Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.

Journal: Frontiers in genetics

Published: December 23, 2022

A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene.

Journal: Seizure

Published: May 20, 2022

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.

Journal: International journal of molecular sciences

Published: May 06, 2022

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.

Journal: Frontiers in neurology

Published: April 27, 2022

Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia.

Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: March 23, 2022

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Last Updated: 09/26/2026