Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Francesca Balistreri"'
Autor:
Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, Stefania Corti
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1158-1164 (2021)
Abstract Objective This work aims to expand knowledge regarding the genetic spectrum of HSPB1‐related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot–Marie–Too
Externí odkaz:
https://doaj.org/article/8c53bf3251f34d1f981917f03f631b36
Autor:
Cristina Cheroni, Lorena Donnici, Alessio Aghemo, Francesca Balistreri, Annalisa Bianco, Valeria Zanoni, Massimiliano Pagani, Roberta Soffredini, Roberta D'Ambrosio, Maria Grazia Rumi, Massimo Colombo, Sergio Abrignani, Petra Neddermann, Raffaele De Francesco
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138546 (2015)
Hepatitis C virus (HCV) variants characterized by genomic deletions in the structural protein region have been sporadically detected in liver and serum of hepatitis C patients. These defective genomes are capable of autonomous RNA replication and are
Externí odkaz:
https://doaj.org/article/903b408f76e049e38e84d2a4a80f3a45
Autor:
Paola Saveri, Stefania Magri, Emanuela Maderna, Francesca Balistreri, Raffaella Lombardi, Claudia Ciano, Fabio Moda, Barbara Garavaglia, Chiara Reale, Giuseppe Lauria Pinter, Franco Taroni, Davide Pareyson, Chiara Pisciotta
Publikováno v:
European Journal of Neurology. 29:2056-2065
Mutations in DNAJB2 are associated with autosomal recessive hereditary motor neuropathies/ Charcot-Marie-Tooth disease type 2 (CMT2). We describe an Italian family with CMT2 due to a homozygous DNAJB2 mutation and provide insight into the pathomechan
Autor:
Davide Pareyson, Stefania Corti, Franco Taroni, Dario Ronchi, Francesca Balistreri, Giulia Manenti, Nereo Bresolin, Chiara Pisciotta, Paola Saveri, Daniele Velardo, Megi Meneri, Elena Abati, Giacomo P. Comi, Stefania Magri
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1158-1164 (2021)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective This work aims to expand knowledge regarding the genetic spectrum of HSPB1‐related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot–Marie–Tooth (CMT)
Autor:
Francesca Balistreri, Silvia Baratta, Isabella Moroni, Federica Rachele Danti, Franco Taroni, Emanuela Pagliano, Stefania Magri, Claudia Ciano
Publikováno v:
Journal of the Peripheral Nervous System. 25:429-432
Background and aims Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of distal symmetric polyneuropathies due to progressive and length-dependent degeneration of peripheral nerves. Cranial nerve involvement has be
Autor:
Maria Lucia Valentino, Stefania Magri, Matthis Synofzik, Lorenzo Peverelli, Mingyan Fang, Alessia Nasca, Piero Barboni, Andrea Legati, Anna Ardissone, Stefania Bianchi Marzoli, Francesca Tagliavini, Eleonora Lamantea, Silvia Baratta, Daniele Ghezzi, Costanza Lamperti, Valerio Carelli, Chiara La Morgia, Rebecca Schüle, Mariantonietta Capristo, Gabriella Cammarata, Leonardo Caporali, Francesca Balistreri, Valentina Del Dotto, Davide Pareyson, Massimo Zeviani, L Melzi, Ludger Schöls, Michele Carbonelli, Franco Taroni, Maria Lucia Cascavilla, Alessandra Maresca
Publikováno v:
Annals of Neurology
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723
Annals of neurology 88(1), 18-32 (2020). doi:10.1002/ana.25723
Objective Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed. Methods We screened 286
Autor:
Erika Schirinzi, Stefano Tozza, Fiore Manganelli, Francesca Balistreri, Elena Maria Pennisi, Daniele Severi, Stefania Magri, Franco Taroni, Chiara Pisciotta, Gabriele Siciliano, Lucio Santoro, Giulia Ricci
EGR2 (Early Growth Response 2) is one of the most important transcription factors involved in myelination in the peripheral nervous system. EGR2 mutations typically cause different forms of demyelinating neuropathy, that is, Charcot-Marie-Tooth type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8e8c77969fe3a4693700a313d1a87b5
http://hdl.handle.net/11588/751493
http://hdl.handle.net/11588/751493