Elda Del Giudice
Overview
Explore the profile of Elda Del Giudice including associated specialties, affiliations and a list of published articles.
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24
Citations
389
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Recent Articles
1.
Bisogni G, Conte A, Costantino U, Lattante S, Bernardo D, Lucioli G, et al.
Genes (Basel)
. 2025 Jan;
15(12.
PMID: 39766833
Variants in Cyclin F () have been associated to amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) in a group of cases. The objectives of this study were to determine...
2.
Libonati L, Cambieri C, Colavito D, Moret F, DAndrea E, Del Giudice E, et al.
J Neurol
. 2023 Dec;
271(4):1921-1936.
PMID: 38112783
Introduction: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease with an elusive etiology. While environmental factors have been considered, familial ALS cases have raised the possibility of genetic involvement. This...
3.
Baso G, Mele F, Del Giudice E, Leon A, Pantoni L
Neurol Sci
. 2023 May;
44(9):3299-3302.
PMID: 37148334
Introduction: Familial hemiplegic migraine type 1 (FHM1) is a monogenic rare disease that is characterized by migraine attacks accompanied by unilateral weakness and is caused by mutations in the CACNA1A...
4.
Lattante S, Sabatelli M, Bisogni G, Marangi G, Doronzio P, Martello F, et al.
Eur J Neurol
. 2023 Feb;
30(5):1246-1255.
PMID: 36732882
Background And Objectives: Genetic variants in the gene TARDBP, encoding TDP-43 protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and sporadic (sALS) cases. Objectives of this study...
5.
Iacono S, Del Giudice E, Leon A, La Bella V, Spataro R
Neurogenetics
. 2022 Jan;
23(2):157-165.
PMID: 35013804
Krabbe disease (KD) is a rare autosomal recessive lipid storage leukodystrophy. It is caused by deficient enzyme activity resulting from mutations of the β-galactocerebrosidase (GALC) gene. KD is distinguished into...
6.
Lattante S, Doronzio P, Conte A, Marangi G, Martello F, Bisogni G, et al.
Hum Mol Genet
. 2021 Jan;
30(1):65-71.
PMID: 33445179
In the last few years, NEK1 has been identified as a new gene related to amyotrophic lateral sclerosis (ALS). Loss-of-function variants have been mostly described, although several missense variants exist,...
7.
Stabile M, Colavito D, Del Giudice E, Rispoli A, Ingenito M, Naumova A
Mol Med Rep
. 2020 Nov;
22(6):4561-4566.
PMID: 33173999
The present case report describes an Italian family with three affected probands, who exhibited serious mental disability, which has not been associated with other anomalies, except with slight facial dysmorphism....
8.
Colavito D, Del Giudice E, Ceccato C, Dalle Carbonare M, Leon A, Suppiej A
J Hum Genet
. 2018 Mar;
63(6):779-781.
PMID: 29568000
No abstract available.
9.
Colavito D, Maritan V, Suppiej A, Del Giudice E, Mazzarolo M, Miotto S, et al.
Biomed Rep
. 2017 Nov;
7(5):451-454.
PMID: 29181157
Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability. Although a number of mutations in...
10.
Piermarocchi S, Miotto S, Colavito D, Del Giudice E, Leon A, Maritan V, et al.
Biomed Rep
. 2017 Aug;
7(3):241-246.
PMID: 28811895
The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to...