Simone Martinelli

Rome, Italy

Last Updated: 09/26/2026

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Found 50 publications

Gene supplementation therapy restores motor deficits in Gnao1[C215Y] mice and proves broad efficacy in C. elegans model.

Gene supplementation therapy restores motor deficits in Gnao1[C215Y] mice and proves broad efficacy in C. elegans model.

Journal: Acta neuropathologica communications

Published: May 06, 2026

Developing a New Approach Methodology Framework to Assess Biological Responses to Nanoplastics: Insights from Polystyrene and Biodegradable Particles.

Developing a New Approach Methodology Framework to Assess Biological Responses to Nanoplastics: Insights from Polystyrene and Biodegradable Particles.

Journal: Nanomaterials (Basel, Switzerland)

Published: April 21, 2026

Dissecting GPCR Contributions to Gαo-Dependent Motor Dysfunction in GNAO1-Related Disorders Using Caenorhabditis elegans.

Dissecting GPCR Contributions to Gαo-Dependent Motor Dysfunction in GNAO1-Related Disorders Using Caenorhabditis elegans.

Journal: Biomedicines

Published: February 13, 2026

Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.

Journal: Science signaling

Published: October 28, 2025

Interpreting the functional impact of genetic variants: The need for context qualifiers.

Interpreting the functional impact of genetic variants: The need for context qualifiers.

Journal: American journal of human genetics

Published: July 16, 2025

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.

Journal: Molecular autism

Published: April 26, 2025

Fluorescent Labeling Can Significantly Perturb Measured Binding Affinity and Selectivity of Peptide-Protein Interactions.

Fluorescent Labeling Can Significantly Perturb Measured Binding Affinity and Selectivity of Peptide-Protein Interactions.

Journal: The journal of physical chemistry letters

Published: October 03, 2024

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

Journal: HGG advances

Published: June 06, 2024

Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course.

Bridging the educational gaps of health professionals in oncogenomics: results from a pilot e-learning course.

Journal: Frontiers in medicine

Published: April 23, 2024

Reply to: Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.

Reply to: Partially Levodopa-Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant.

Journal: Movement disorders clinical practice

Published: February 27, 2024

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.

Journal: American journal of medical genetics. Part A

Published: February 01, 2024

Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: November 08, 2023

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Last Updated: 09/26/2026