Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Andreina Bordoni"'
Autor:
Dario Ronchi, Edoardo Monfrini, Sara Bonato, Veronica Mancinelli, Claudia Cinnante, Sabrina Salani, Andreina Bordoni, Patrizia Ciscato, Francesco Fortunato, Marianna Villa, Alessio Di Fonzo, Stefania Corti, Nereo Bresolin, Giacomo P. Comi
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 839-845 (2020)
Abstract Biallelic mutations in ECHS1, encoding the mitochondrial enoyl‐CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia
Externí odkaz:
https://doaj.org/article/fa5e73b5b03a48ee982c1c0609e8a8ff
Autor:
Dario Ronchi, Leonardo Caporali, Giulia Francesca Manenti, Megi Meneri, Susan Mohamed, Andreina Bordoni, Francesca Tagliavini, Manuela Contin, Daniela Piga, Monica Sciacco, Cristina Saetti, Valerio Carelli, Giacomo Pietro Comi
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described. Gene panel sequenc
Externí odkaz:
https://doaj.org/article/006184b737b1423093626a1d20525e8e
Autor:
Giacomo Monzio Compagnoni, Giulio Kleiner, Maura Samarani, Massimo Aureli, Gaia Faustini, Arianna Bellucci, Dario Ronchi, Andreina Bordoni, Manuela Garbellini, Sabrina Salani, Francesco Fortunato, Emanuele Frattini, Elena Abati, Christian Bergamini, Romana Fato, Silvia Tabano, Monica Miozzo, Giulia Serratto, Maria Passafaro, Michela Deleidi, Rosamaria Silipigni, Monica Nizzardo, Nereo Bresolin, Giacomo P. Comi, Stefania Corti, Catarina M. Quinzii, Alessio Di Fonzo
Publikováno v:
Stem Cell Reports, Vol 11, Iss 5, Pp 1185-1198 (2018)
Summary: Multiple system atrophy (MSA) is a progressive neurodegenerative disease that affects several areas of the CNS, whose pathogenesis is still widely unclear and for which an effective treatment is lacking. We have generated induced pluripotent
Externí odkaz:
https://doaj.org/article/325f58cfb0334279a093a2fea8e263cc
Autor:
Paola Rinchetti, Sara Bonato, Giacomo P. Comi, Andreina Bordoni, Rosamaria Silipigni, Stefania Corti, Giacomo Monzio Compagnoni, Stefano Duga, Edoardo Monfrini, Robertino Dilena, Dario Ronchi, Letizia Straniero, Nereo Bresolin, Alessio Di Fonzo
Publikováno v:
Parkinsonism & Related Disorders. 63:66-72
Introduction Neurofascin, encoded by NFASC, is a transmembrane protein that plays an essential role in nervous system development and node of Ranvier function. Anti-Neurofascin autoantibodies cause a specific type of chronic inflammatory demyelinatin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a189c0d1b4504447f32086de8b4d8367
https://doi.org/10.1016/j.parkreldis.2019.02.045
https://doi.org/10.1016/j.parkreldis.2019.02.045
Autor:
Raffaella Violano, Francesco Fortunato, Giacomo P. Comi, Gianna Ulzi, Sabrina Lucchiari, Serena Pagliarani, Andreina Bordoni, Stefania Corti, Nereo Bresolin, Maurizio Moggio, Michela Ripolone
Publikováno v:
Biochimica et Biophysica Acta
Glycogen disease type III (GSDIII), a rare incurable autosomal recessive disorder due to glycogen debranching enzyme deficiency, presents with liver, heart and skeletal muscle impairment, hepatomegaly and ketotic hypoglycemia. Muscle weakness usually
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::209545d049691221a9d708ab5443d263
https://doi.org/10.1016/j.bbadis.2018.07.031
https://doi.org/10.1016/j.bbadis.2018.07.031
Autor:
Sara Bonato, Edoardo Monfrini, Nereo Bresolin, Francesco Fortunato, Giacomo P. Comi, Sabrina Salani, Dario Ronchi, P. Ciscato, Stefania Corti, Veronica Mancinelli, Marianna Villa, Claudia Cinnante, Andreina Bordoni, Alessio Di Fonzo
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 839-845 (2020)
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 839-845 (2020)
Biallelic mutations in ECHS1, encoding the mitochondrial enoyl‐CoA hydratase, have been associated with mitochondrial encephalopathies with basal ganglia involvement. Here, we describe a novel clinical presentation consisting of dystonia‐ataxia s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e8ec2b41d1c60237279f518964b731
https://pubmed.ncbi.nlm.nih.gov/32329585
https://pubmed.ncbi.nlm.nih.gov/32329585
Autor:
Robertino Dilena, Elisa Scola, Gabriele Buongarzone, Valentina Melzi, Stefania Corti, Nereo Bresolin, Paola Vizziello, Dario Ronchi, Edoardo Monfrini, Giacomo P. Comi, Andreina Bordoni, Giulia Franco, Alessio Di Fonzo
Publikováno v:
Parkinsonism & Related Disorders. 48:109-111
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4fcc0e8eda33595edc1160d231468dc9
https://doi.org/10.1016/j.parkreldis.2017.12.025
https://doi.org/10.1016/j.parkreldis.2017.12.025
Autor:
Gianluca Lopez, Alessio Di Fonzo, Sara Bonato, Stefania Corti, Alessandra Pittaro, Giacomo P. Comi, Emanuele Frattini, Giacomo Bitetto, Sabrina Salani, Fulvia Milena Cribiù, Dario Ronchi, Andreina Bordoni, Giacomo Monzio Compagnoni, Nereo Bresolin
Publikováno v:
Human molecular genetics. 28(23)
Allgrove syndrome (AS) is a rare disease with broad neurological involvement. Neurodegeneration can affect spinal motor neurons, Purkinje cells, striatal neurons and the autonomic system. The mechanisms that lead to neuronal loss are still unclear. R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07faba2b82dfad5bdeb2edf2717da9dc
https://pubmed.ncbi.nlm.nih.gov/31600784
https://pubmed.ncbi.nlm.nih.gov/31600784
Autor:
Alberto Albanese, Romana Fato, Christian Bergamini, Francesco Fortunato, Barbara Garavaglia, Giulio Kleiner, Marianna Guida, Alessio Di Fonzo, Giacomo P. Comi, Francesca Del Sorbo, Maria Teresa Pellecchia, Nereo Bresolin, Giacomo Monzio Compagnoni, Corrado Corti, Annamaria Vallelunga, Catarina M. Quinzii, Antonio E. Elia, Andreina Bordoni, Irene Pichler, Sabrina Salani, Gianluca Ardolino, Filippo Cogiamanian, Stefania Corti, Gabriele Mora, Chiara Reale, Dario Ronchi
Multiple System Atrophy is a severe neurodegenerative disorder which is characterized by a variable clinical presentation and a broad neuropathological spectrum. The pathogenic mechanisms are almost completely unknown. In the present study, we establ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef3210306b4ae8fcef61358b727acf89
http://hdl.handle.net/10807/154897
http://hdl.handle.net/10807/154897
Autor:
Monica Nizzardo, Maura Samarani, Alessio Di Fonzo, Rosamaria Silipigni, Giacomo P. Comi, Maria Passafaro, Emanuele Frattini, Christian Bergamini, Manuela Garbellini, Giacomo Monzio Compagnoni, Arianna Bellucci, Massimo Aureli, Catarina M. Quinzii, Romana Fato, Francesco Fortunato, Sabrina Salani, Stefania Corti, Dario Ronchi, Elena Abati, Andreina Bordoni, Giulio Kleiner, Giulia Maia Serratto, Nereo Bresolin, Monica Miozzo, Michela Deleidi, Silvia Tabano, Gaia Faustini
Publikováno v:
Stem cell reports 11(5), 1185-1198 (2018). doi:10.1016/j.stemcr.2018.09.007
Stem Cell Reports
Stem Cell Reports, Vol 11, Iss 5, Pp 1185-1198 (2018)
Stem Cell Reports
Stem Cell Reports, Vol 11, Iss 5, Pp 1185-1198 (2018)
Summary Multiple system atrophy (MSA) is a progressive neurodegenerative disease that affects several areas of the CNS, whose pathogenesis is still widely unclear and for which an effective treatment is lacking. We have generated induced pluripotent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c095f121b1ba906c1a6f4b4fc5d74ef9
https://pub.dzne.de/record/140336
https://pub.dzne.de/record/140336