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pro vyhledávání: ''
Autor:
Serena Valent, Annalisa Sechi, Andrea Dardis, Daniela Macor, Manuela Zanatta, Rosalia Maria Da Riol, Maurizio Scarpa, Katja Bianchi, Francesca Valent, Nadia Bertossi, Alessandro Mauro Spinelli
Publikováno v:
Molecular Genetics and Metabolism
The direct and indirect effects of Coronavirus Disease-19 (COVID-19) pandemic, on Italian patients with lysosomal storage disorders receiving therapy, were analyzed by a phone questionnaire. No proved COVID-19 emerged among 102 interviewed. No proble
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf918e79fe61e4c0c4566f9bdcb772a0
https://hdl.handle.net/11577/3486204
https://hdl.handle.net/11577/3486204
Autor:
Leda Chatzi, Katerina Margetaki, Marina Vafeiadi, Polyxeni Karakosta, Georgia Chalkiadaki, Katerina Koutra, Andriani Kyriklaki, Manolis Kogevinas, Mariza Kampouri, Despoina Anousaki, Katerina Sarri
Publikováno v:
Horm Behav
Hormones and Behavior, 116:104585. Academic Press Inc.
Hormones and Behavior, 116:104585. Academic Press Inc.
Background Phenylketonuria (PKU) is due to the deficit of the enzyme phenylalanine hydroxylase, the first step of dopamine synthesis. If not early treated the disease results in severe neurological impairment. Minor neurological signs have been repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fbec689fac710e763d660fbdb7d0882
http://hdl.handle.net/11573/1333933
http://hdl.handle.net/11573/1333933
Autor:
Franco Giubilini, Luisella Bocchio-Chiavetto, Giovanni B. Frisoni, Clarissa Ferrari, Antonio Lasalvia, Chiara Bonetto, Sarah Tosato, Francesca Pileggi, Angelo Fioritti, Mariacarla Ventriglia, Giovanni de Girolamo, Angela Favaro, Roberta Zanardini, Massimo Gennarelli, Mirella Ruggeri, Michele Pavanati, Michela Pratelli
Publikováno v:
Brain, Behavior and Immunity, Vol. 70 (2018) pp. 315-324
The molecular underpinnings associated to first episode psychosis (FEP) remains to be elucidated, but compelling evidence supported an association of FEP with blood alterations in biomarkers related to immune system, growth factors and metabolism reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::474436ad72cbcaf78bafb769e3b81685
http://hdl.handle.net/11577/3277245
http://hdl.handle.net/11577/3277245
Autor:
Cristina Colombo, Veronica Aggio, Elena Mazza, Clara Locatelli, Annemarie J. M. Wijkhuijs, Francesco Benedetti, Harm de Wit, Hemmo A. Drexhage, Sara Poletti
Publikováno v:
Brain Behavior & Immunity, 61, 317-325. Academic Press
Abnormalities of T cell-mediated immune activation, in the absence of active somatic immune diseases, have consistently been reported in mood disorders. Apart from being important players in the regulation of cells of the immune system, T cells are e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3ef27c2377631fed8921d4778802d9c
http://www.elsevier.com/inca/publications/store/6/2/2/8/0/0/index.htt
http://www.elsevier.com/inca/publications/store/6/2/2/8/0/0/index.htt
Autor:
Michela Spatuzza, Patrizia Longone, Simona D'Antoni, Eleonora Aronica, Floriana Laureanti, Eugenia Ranno, Anand Iyer, Antonio Berretta, Alida Spalloni, Carmela M. Bonaccorso, Maria Vincenza Catania, Rosalia Pellitteri
Publikováno v:
Neurobiology of Disease, Vol 65, Iss, Pp 160-171 (2014)
Neurobiology of disease, 65, 160-171. Academic Press Inc.
Neurobiology of Disease, 65, 160-171. Academic Press Inc.
Neurobiology of disease (Online) 65 (2014): 160–171.
info:cnr-pdr/source/autori:Ranno E1, D'Antoni S2, Spatuzza M2, Berretta A2, Laureanti F3, Bonaccorso CM4, Pellitteri R2, Longone P5, Spalloni A5, Iyer AM6, Aronica E7, Catania MV8./titolo:Endothelin-1 is over-expressed in amyotrophic lateral sclerosis and induces motor neuron cell death./doi:/rivista:Neurobiology of disease (Online)/anno:2014/pagina_da:160/pagina_a:171/intervallo_pagine:160–171/volume:65
Neurobiology of disease, 65, 160-171. Academic Press Inc.
Neurobiology of Disease, 65, 160-171. Academic Press Inc.
Neurobiology of disease (Online) 65 (2014): 160–171.
info:cnr-pdr/source/autori:Ranno E1, D'Antoni S2, Spatuzza M2, Berretta A2, Laureanti F3, Bonaccorso CM4, Pellitteri R2, Longone P5, Spalloni A5, Iyer AM6, Aronica E7, Catania MV8./titolo:Endothelin-1 is over-expressed in amyotrophic lateral sclerosis and induces motor neuron cell death./doi:/rivista:Neurobiology of disease (Online)/anno:2014/pagina_da:160/pagina_a:171/intervallo_pagine:160–171/volume:65
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive loss of motor 29 neurons (MNs) and astrogliosis. Recent evidences suggest that factors secreted by activated astrocytes might 30 contribute to degenerati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::095554cb90293045c7708722805947af
https://dare.uva.nl/personal/pure/en/publications/endothelin1-is-overexpressed-in-amyotrophic-lateral-sclerosis-and-induces-motor-neuron-cell-death(78e24d87-4a03-4068-969c-420543d032a0).html
https://dare.uva.nl/personal/pure/en/publications/endothelin1-is-overexpressed-in-amyotrophic-lateral-sclerosis-and-induces-motor-neuron-cell-death(78e24d87-4a03-4068-969c-420543d032a0).html
Autor:
Anna Pastore, Fiorella Piemonte, Chiara Aiello, Aurora Pujol, Giulia Tozzi, Enrico Bertini, Sara Petrillo, Marco Cappa
Publikováno v:
Molecular Genetics and Metabolism; Vol 109
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism
Background X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder of X-linked inheritance caused by a mutation in the ABCD1 gene which determines an accumulation of long-chain fatty acids in plasma and tissues. Recent evidence shows that oxidati
Publikováno v:
Preventive Medicine
Objective To estimate numbers affected by a recent change in UK guidelines for statin use in primary prevention of cardiovascular disease. Method We modelled cholesterol ratio over time using a sample of 45,151 men (≥ 40 years) and 36,168 women (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89ccb2fa64f2648274cc541d8249468f
https://ora.ox.ac.uk/objects/uuid:475d3206-9ec9-4f0a-800f-d32d455c1368
https://ora.ox.ac.uk/objects/uuid:475d3206-9ec9-4f0a-800f-d32d455c1368
Autor:
Peter A. Cooper, Hanna Rosenbaum, Sari Alon, Gloria Duran, Milan Petakov, Ari Zimran, Sergio Solorio-Meza, Fiorina Giona, Raul Chertkoff, Eduardo Terreros Muñoz, Pilar Giraldo, Sheeba Varughese
Taliglucerase alfa, the first available plant cell–expressed recombinant therapeutic protein, is an enzyme replacement therapy approved for Gaucher disease (GD). PB-06-001, a pivotal phase 3, multicenter, randomized, double-blind, parallel-dose stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a562bab1c6cc46ccb1068793257c8b6b
http://hdl.handle.net/11573/910808
http://hdl.handle.net/11573/910808
Autor:
Virginie Vauthier, Christèle Dubourg, Julie Dam, Hubert Journel, Sylvie Jaillard, Ralf Jockers
Publikováno v:
Molecular Genetics and Metabolism; Vol 106
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism, Elsevier, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism, Elsevier, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
International audience; CONTEXT: The genomic organization of the LEPR gene is complex and generates three independent transcripts whose respective functions are still poorly understood. METHODS/RESULTS: We describe here a 7-year old patient with a ho