Elda Del Giudice
Padova, Italy
Last Updated: 09/26/2026
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Found 12 publications
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.
Journal: Genes
Published: October 29, 2024
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Journal: Journal of neurology
Published: September 06, 2023
A novel CACNA1A R2201W variant in a woman with hemiplegic migraine.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: February 02, 2023
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Journal: European journal of neurology
Published: September 28, 2022
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Journal: Neurogenetics
Published: November 13, 2021
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
A novel exomal ATRX mutation with preferential transmission to offspring: A case report and review of the literature for transmission ratio distortion in ATRX families.
Journal: Molecular medicine reports
Published: February 20, 2020
Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.
Journal: Journal of human genetics
Published: November 14, 2017
Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis.
Journal: Biomedical reports
Published: May 30, 2017
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Journal: Biomedical reports
Published: March 31, 2017
Octopamine, unlike other trace amines, inhibits responses of astroglia-enriched cultures to lipopolysaccharide via a β-adrenoreceptor-mediated mechanism.
Journal: Neuroscience letters
Published: November 09, 2011
Showing 1-12 of 12
Last Updated: 09/26/2026