Alessia Casamassa

San Giovanni Rotondo, 71013, Italy

Last Updated: 09/26/2026

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Found 14 publications

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.

Journal: Cell communication and signaling : CCS

Published: October 13, 2025

Investigating the Impact of the Parkinson's-Associated GBA1 E326K Mutation on β-Glucocerebrosidase Dimerization and Interactome Dynamics Through an In Silico Approach.

Investigating the Impact of the Parkinson's-Associated GBA1 E326K Mutation on β-Glucocerebrosidase Dimerization and Interactome Dynamics Through an In Silico Approach.

Journal: International journal of molecular sciences

Published: September 13, 2024

Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).

Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).

Journal: Stem cell research

Published: May 27, 2024

Structural and functional alterations of neurons derived from sporadic Alzheimer's disease hiPSCs are associated with downregulation of the LIMK1-cofilin axis.

Structural and functional alterations of neurons derived from sporadic Alzheimer's disease hiPSCs are associated with downregulation of the LIMK1-cofilin axis.

Journal: Alzheimer's research & therapy

Published: April 11, 2024

Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.

Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.

Journal: Frontiers in cell and developmental biology

Published: January 10, 2023

Circadian profile, daytime activity, and the Parkinson's phenotype: A motion sensor pilot study with neurobiological underpinnings.

Circadian profile, daytime activity, and the Parkinson's phenotype: A motion sensor pilot study with neurobiological underpinnings.

Journal: Neurobiology of sleep and circadian rhythms

Published: December 16, 2022

Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.

Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview.

Journal: Frontiers in cell and developmental biology

Published: November 25, 2022

Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.

Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.

Journal: Stem cell research

Published: June 12, 2022

Cerebrospinal fluid levels of L-glutamate signal central inflammatory neurodegeneration in multiple sclerosis.

Cerebrospinal fluid levels of L-glutamate signal central inflammatory neurodegeneration in multiple sclerosis.

Journal: Journal of neurochemistry

Published: June 24, 2021

Known Drugs Identified by Structure-Based Virtual Screening Are Able to Bind Sigma-1 Receptor and Increase Growth of Huntington Disease Patient-Derived Cells.

Known Drugs Identified by Structure-Based Virtual Screening Are Able to Bind Sigma-1 Receptor and Increase Growth of Huntington Disease Patient-Derived Cells.

Journal: International journal of molecular sciences

Published: December 23, 2020

High performance liquid chromatography determination of L-glutamate, L-glutamine and glycine content in brain, cerebrospinal fluid and blood serum of patients affected by Alzheimer's disease.

High performance liquid chromatography determination of L-glutamate, L-glutamine and glycine content in brain, cerebrospinal fluid and blood serum of patients affected by Alzheimer's disease.

Journal: Amino acids

Published: August 24, 2020

Cerebrospinal fluid and serum d-serine concentrations are unaltered across the whole clinical spectrum of Alzheimer's disease.

Cerebrospinal fluid and serum d-serine concentrations are unaltered across the whole clinical spectrum of Alzheimer's disease.

Journal: Biochimica et biophysica acta. Proteins and proteomics

Published: August 09, 2020

Showing 1-12 of 14

Last Updated: 09/26/2026