Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Lucilla Nobbio"'
Autor:
Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, Marina Grandis
Publikováno v:
Life, Vol 12, Iss 3, p 402 (2022)
Charcot–Marie–Tooth (CMT) disease is the most commonly inherited neurological disorder. This study includes patients affected by CMT during regular follow-ups at the CMT clinic in Genova, a neuromuscular university center in the northwest of Ital
Externí odkaz:
https://doaj.org/article/6a0ea7e07bf84bfa957c4bd6181b2c97
Autor:
Davide Visigalli, Giovanna Capodivento, Abdul Basit, Roberto Fernández, Zeeshan Hamid, Barbora Pencová, Chiara Gemelli, Daniela Marubbi, Cecilia Pastorino, Adrienne M. Luoma, Christian Riekel, Daniel A. Kirschner, Angelo Schenone, José A. Fernández, Andrea Armirotti, Lucilla Nobbio
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
In Charcot–Marie–Tooth type 1A (CMT1A), Schwann cells exhibit a preponderant transcriptional deficiency of genes involved in lipid biosynthesis. This perturbed lipid metabolism affects the peripheral nerve physiology and the structure of peripher
Externí odkaz:
https://doaj.org/article/dab3a83382504d50bb13125de0d5d8ed
Autor:
Giovanna Capodivento, Davide Visigalli, Martina Garnero, Roberto Fancellu, Michela Demetra Ferrara, Abdul Basit, Zeeshan Hamid, Vito Paolo Pastore, Silvano Garibaldi, Andrea Armirotti, Gianluigi Mancardi, Carlo Serrati, Elisabetta Capello, Angelo Schenone, Lucilla Nobbio
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Fast, accurate and reliable methods to quantify the amount of myelin still lack, both in humans and experimental models. The overall objective of the present study was to demonstrate that sphingomyelin (SM) in the cerebrospinal fluid (CSF) o
Externí odkaz:
https://doaj.org/article/9565e9d63f784317a3a29b6d115273b5
Autor:
Lucilla Nobbio, Tiziana Vigo, Michele Abbruzzese, Giovanni Levi, Claudio Brancolini, Stefano Mantero, Marina Grandis, Luana Benedetti, Gianluigi Mancardi, Angelo Schenone
Publikováno v:
Neurobiology of Disease, Vol 16, Iss 1, Pp 263-273 (2004)
Charcot-Marie-Tooth type 1A (CMT1A) is a hereditary demyelinating neuropathy due to an increased genetic dosage of the peripheral myelin protein 22 (PMP22). The mechanisms leading from PMP22 overexpression to impairment of myelination are still uncle
Externí odkaz:
https://doaj.org/article/4fab7f8e7277422388a05f8643abd959
Autor:
Elisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, Veronica Musante, Floriana Fruscione, Veronica La Padula, Roberta Biancheri, Sonia Scarfì, Valeria Prada, Federica Sotgia, Ian D Duncan, Federico Zara, Hauke B Werner, Michael P Lisanti, Lucilla Nobbio, Anna Corradi, Carlo Minetti
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32180 (2012)
"Hypomyelination and Congenital Cataract", HCC (MIM #610532), is an autosomal recessive disorder characterized by congenital cataract and diffuse cerebral and peripheral hypomyelination. HCC is caused by deficiency of Hyccin, a protein whose biologic
Externí odkaz:
https://doaj.org/article/90cf5623cd8e4b1dbfbd83a376bef951
Autor:
Francesca A Veneri, Valeria Prada, Rosa Mastrangelo, Cinzia Ferri, Lucilla Nobbio, Mario Passalacqua, Maria Milanesi, Francesca Bianchi, Ubaldo Del Carro, Jean-Michel Vallat, Phu Duong, John Svaren, Angelo Schenone, Marina Grandis, Maurizio D’Antonio
Publikováno v:
Human Molecular Genetics. 31:4255-4274
Mutations in the Myelin Protein Zero gene (MPZ), encoding P0, the major structural glycoprotein of peripheral nerve myelin, are the cause of Charcot–Marie-Tooth (CMT) type 1B neuropathy, and most P0 mutations appear to act through gain-of-function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02db0b21a790052c7e2f89e6e4a8ac03
https://doi.org/10.1093/hmg/ddac170
https://doi.org/10.1093/hmg/ddac170
Autor:
Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Payam Mohassel, Matteo Cataldi, Chiara Campana, Simone Morando, Chiara Panicucci, Marina Pedemonte, Noemi Brolatti, Sabrina Siliquini, Monica Traverso, Serena Baratto, Doriana Debellis, Stefania Magri, Valeria Prada, Emilia Bellone, Vincenzo Salpietro, Sandra Donkervoort, Kenneth Gable, Sita D. Gupta, Teresa M. Dunn, Carsten G. Bönnemann, Franco Taroni, Claudio Bruno, Angelo Schenone, Paola Mandich, Lucilla Nobbio, Maria Nolano
Publikováno v:
Neuropathology and Applied Neurobiology. 48
SPTLC1-related disorder is a late onset sensory-autonomic neuropathy associated with perturbed sphingolipid homeostasis which can be improved by supplementation with the serine palmitoyl-CoA transferase (SPT) substrate, l-serine. Recently, a juvenile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c0adef0de11c681ceab6cde003990b7
https://doi.org/10.1111/nan.12842
https://doi.org/10.1111/nan.12842
Autor:
Emanuela Maria Mobilia, Anastasia Lechiara, Federica Bozzano, Giorgia Anselmi, Lucilla Nobbio, Paolo Nozza, Giampaola Pesce, Fabio Bandini, Diego Franciotta
Publikováno v:
Clinical biochemistry. 107
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f0a9ec4851fce08ca9b7cbbdb5614d
https://pubmed.ncbi.nlm.nih.gov/35659888
https://pubmed.ncbi.nlm.nih.gov/35659888
Autor:
Giovanna Capodivento, Luana Benedetti, Chiara De Michelis, Paola Lanteri, Marinella Carpo, Alessandro Beronio, Lucilla Nobbio, Davide Visigalli, Gabriele Siciliano, Fiore Manganelli, Elisabetta Capello, Roberto Fancellu, Angelo Schenone, Erika Schirinzi, Daniele Severi, Eduardo Nobile-Orazio, Diego Franciotta
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
ObjectiveTo validate sphingomyelin (SM) dosage in the cerebrospinal fluid (CSF) of patients affected by chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Guillain-Barré syndrome (GBS) as a reliably assessable biomarker.MethodsWe p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b549e86af9b8858c30d755cb6020310
http://hdl.handle.net/11567/1036346
http://hdl.handle.net/11567/1036346
Autor:
Marina Grandis, Istvan Katona, Lucilla Nobbio, Valeria Prada, Angelo Schenone, Joachim Weis, Stefan Nikolin
Publikováno v:
Journal of the peripheral nervous system : JPNS 26(S2), 3-10 (2021). doi:10.1111/jns.12468 special issue: "Special Issue:Images from the Nerve: An Atlas for Neurologists"
Journal of the peripheral nervous system : JPNS 26(S2), 3-10 (2021). doi:10.1111/jns.12468 special issue: "Special Issue:Images from the Nerve: An Atlas for Neurologists"
Published by Wiley-Blackwell, Oxford [u.a.]
Published by Wiley-Blackwell, Oxford [u.a.]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef14ade1f92e3638e8908ac8683ad0b9
http://hdl.handle.net/11567/1075724
http://hdl.handle.net/11567/1075724