Zobrazeno 1 - 10
of 680
pro vyhledávání: '"Maria, Valente"'
Autor:
Stefanie Lerche, Isabel Wurster, Enza Maria Valente, Micol Avenali, Daniela Samaniego, Marta Martínez-Vicente, Jorge Hernández-Vara, Ariadna Laguna, Andrea Sturchio, Per Svenningsson, Nicholas P. France, Carrolee Barlow, Sethu Sankaranarayanan, Kathrin Brockmann
Publikováno v:
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-6 (2024)
Abstract Variants in GBA1 result in dysregulated sphingolipids. We investigated five CSF d18:1 sphingolipid species in a longitudinal multicenter cohort comprising people with Parkinson’s Disease and Dementia with Lewy bodies with and without GBA1
Externí odkaz:
https://doaj.org/article/0432f15037794f51a76f397dcdb3ce10
Autor:
Alberto Imarisio, Isar Yahyavi, Clara Gasparri, Amber Hassan, Micol Avenali, Anna Di Maio, Gabriele Buongarzone, Caterina Galandra, Marta Picascia, Asia Filosa, Maria Cristina Monti, Claudio Pacchetti, Francesco Errico, Mariangela Rondanelli, Alessandro Usiello, Enza Maria Valente
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Frailty is a common age-related clinical syndrome characterized by a decline in the function of multiple organ systems, increased vulnerability to stressors, and a huge socio-economic burden. Despite recent research efforts, the physiopathol
Externí odkaz:
https://doaj.org/article/e4a0fd0eec5047e09feecd3b351ffc47
Autor:
Mariana Gazire Lemos, Paulo Henrique da Silva Lack, Teresa Maria Valente, Amélia Paula Marinho Reis, Amália Sequeira Braga, Rita Maria Ferreira Fonseca, Fernanda Guabiroba, José Gregório da Mata Filho, Marcus Felix Magalhães, Giovana Rebelo Diório
Publikováno v:
REM: International Engineering Journal, Vol 77, Iss 3 (2024)
Abstract As historical waste has accumulated in dams, the interest in studying the feasibility of reusing mining tailings has grown, offering both environmental and economic advantages. However, given the unique characteristics of each site, conducti
Externí odkaz:
https://doaj.org/article/3938d212204d42c2859dd6c379ea6731
Autor:
Franco, Maura Fernandes, Leme, Daniel Eduardo da Cunha, Coimbra, Ibsen Bellini, Coimbra, Arlete Maria Valente
Publikováno v:
In Archives of Gerontology and Geriatrics August 2024 123
Autor:
Alberto Imarisio, Isar Yahyavi, Micol Avenali, Anna Di Maio, Gabriele Buongarzone, Caterina Galandra, Marta Picascia, Asia Filosa, Clara Gasparri, Maria Cristina Monti, Mariangela Rondanelli, Claudio Pacchetti, Francesco Errico, Enza Maria Valente, Alessandro Usiello
Publikováno v:
Neurobiology of Disease, Vol 192, Iss , Pp 106413- (2024)
We recently described increased D- and L-serine concentrations in the striatum of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated monkeys, the post-mortem caudate-putamen of human Parkinson's disease (PD) brains and the cerebrospinal flui
Externí odkaz:
https://doaj.org/article/c2a75f8d8b7541e4b2e1c288a5fe93da
Autor:
Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J. Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore R. Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, the Global Parkinson’s Genetic Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-5 (2023)
Abstract The Monogenic Network of the Global Parkinson’s Genetics Program (GP2) aims to create an efficient infrastructure to accelerate the identification of novel genetic causes of Parkinson’s disease (PD) and to improve our understanding of al
Externí odkaz:
https://doaj.org/article/8b77c4b847d04eeb869510a018f48bee
Autor:
Emiliano Giardina, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Francesco Danilo Tiziano, Federica Esposito, Sabina Capellari, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Fabio Gotta, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Enza Maria Valente, Vincenzo Silani
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionHigh repeat expansion (HRE) alleles in C9orf72 have been linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD); ranges for intermediate allelic expansions have not been defined yet, and clinical interpretati
Externí odkaz:
https://doaj.org/article/48c2074ccdf6430aa36dbc406509d0c2
Autor:
Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J. Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore R. Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, the Global Parkinson’s Genetic Program (GP2)
Publikováno v:
npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-3 (2023)
Externí odkaz:
https://doaj.org/article/3f7a6c99f648490596d129df6135734f
Autor:
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background The term congenital ocular motor apraxia (COMA), coined by Cogan in 1952, designates the incapacity to initiate voluntary eye movements performing rapid gaze shift, so called saccades. While regarded as a nosological entity by som
Externí odkaz:
https://doaj.org/article/ceff460c817f43bdbaa50221fb814e9a
Autor:
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–
Externí odkaz:
https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27