Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Elda Del Giudice"'
Publikováno v:
Neurological Sciences.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76f3d37a31bbc3b143d21a6ed8ace41d
https://doi.org/10.1007/s10072-023-06839-0
https://doi.org/10.1007/s10072-023-06839-0
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 subtypes based on the age of onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c32774f8f260259519698ae68c83f862
http://hdl.handle.net/10447/532773
http://hdl.handle.net/10447/532773
Autor:
Amelia Conte, Marcella Zollino, Agata Katia Patanella, Giulia Bisogni, Emiliana Meleo, Paolo Niccolò Doronzio, Angela Romano, Davide Colavito, Mario Sabatelli, Elda Del Giudice, Francesco Martello, Serena Lattante, Daniela Bernardo, Giuseppe Marangi
Publikováno v:
Human Molecular Genetics. 30:65-71
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, which pathogenic relevance remains to be est
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad311c6164b36fd9e6b165c030202c2a
https://doi.org/10.1093/hmg/ddab015
https://doi.org/10.1093/hmg/ddab015
Autor:
Davide Colavito, Anna K. Naumova, Mariano Stabile, Anna Flavia Rispoli, Marina C. Ingenito, Elda Del Giudice
Publikováno v:
Molecular Medicine Reports
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. Molecular multigenic analysis for in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a013e32372c629972e2ea81bb1a1e3
http://europepmc.org/articles/PMC7646821
http://europepmc.org/articles/PMC7646821
Autor:
Davide Colavito, Alberta Leon, Rita Piermarocchi, Alma Patrizia Tormene, Stefano Piermarocchi, Elda Del Giudice, Veronica Maritan, Stefania Miotto
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 describe the long-term modification of retinal structure. Two brothers with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27f755052b4c921cc34b61203faad140
http://hdl.handle.net/11577/3239842
http://hdl.handle.net/11577/3239842
Autor:
Davide Colavito, Elda Del Giudice, M. Mazzarolo, Veronica Maritan, Alberta Leon, Sofia Farina, Stefania Miotto, Stefano Piermarocchi, Maurizio Dalle Carbonare, Agnese Suppiej
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 different genes are now known to ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae95c6db44eb4083138548ce6266b82b
http://hdl.handle.net/11392/2387452
http://hdl.handle.net/11392/2387452
Autor:
Antonello D'Arrigo, Giovanni D'Andrea, Alberta Leon, Davide Colavito, Elda Del Giudice, Daniele Bernardini, Fabrizio Facchinetti
Publikováno v:
Neuroscience Letters. 517:36-40
Trace amines (TAs), i.e. β-phenylethylamine, tyramine and octopamine, are generally regarded as sympathomimetic compounds with structural and functional analogy with catecholamines. Previous reports have shown particularly high levels of circulating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78b1085ad4e859c251ba684fed42723f
https://doi.org/10.1016/j.neulet.2012.04.013
https://doi.org/10.1016/j.neulet.2012.04.013
Autor:
Tullio A. Minelli, Giuliano Moschini, Fabrizio Facchinetti, Alberta Leon, Elda Del Giudice, Valentina Nofrate, Mauro Dam, P. Boccaccio
Publikováno v:
Neuroscience Letters. 418:9-12
Recent epidemiological studies raise the possibility that individuals with occupational exposure to low frequency (50-60 Hz) electromagnetic fields (LF-EMF), are at increased risk of Alzheimer's disease (AD). However, the mechanisms through which LF-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::186480a57f771a743adb0d8f1ddc7d48
https://doi.org/10.1016/j.neulet.2007.02.057
https://doi.org/10.1016/j.neulet.2007.02.057
Autor:
Fabrizio Facchinetti, Simone Ottonello, Elda Del Giudice, Francesca Grassi, Paola Puccini, Gino Villetti, Roberta Volta, Alberta Leon, Bruno P. Imbimbo, Nadia Moretto, Benedetta Riccardi, Valentina Cenacchi
Publikováno v:
Pharmacological Research. 55:318-328
Long-term use of non-steroidal anti-inflammatory drugs (NSAIDs) may delay or prevent the onset of Alzheimer's disease (AD). A subset of NSAIDs, including flurbiprofen, has been shown to selectively inhibit the production of beta-amyloid(1-42) (Abeta4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b1bca9283121bcbd3b68482d990d78e
https://doi.org/10.1016/j.phrs.2006.12.010
https://doi.org/10.1016/j.phrs.2006.12.010