Paolo N. Doronzio

Rome, Italy

Last Updated: 09/26/2026

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Found 18 publications

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.

Journal: Journal of neurology

Published: April 01, 2025

Exploring the Role of CCNF Variants in Italian ALS Patients.

Exploring the Role of CCNF Variants in Italian ALS Patients.

Journal: Genes

Published: October 29, 2024

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.

Journal: Genes & diseases

Published: July 03, 2024

Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.

Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.

Journal: Journal of neurology

Published: April 10, 2024

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.

Journal: European journal of neurology

Published: September 28, 2022

Analysis of STMN2 CA repeats in italian ALS patients shows no association.

Analysis of STMN2 CA repeats in italian ALS patients shows no association.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: July 25, 2022

Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.

Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.

Journal: Stem cell research

Published: November 12, 2021

Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.

Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.

Journal: Stem cell research

Published: June 25, 2021

Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.

Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.

Journal: Human molecular genetics

Published: November 20, 2020

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Journal: Genes

Published: August 14, 2020

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.

Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.

Journal: Journal of medical genetics

Published: June 03, 2020

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.

Coexistence of variants in TBK1 and in other ALS-related genes elucidates an oligogenic model of pathogenesis in sporadic ALS.

Journal: Neurobiology of aging

Published: October 09, 2018

Showing 1-12 of 18

Last Updated: 09/26/2026