Zobrazeno 1 - 10
of 684
pro vyhledávání: '"Nereo BRESOLIN"'
Autor:
Elena Abati, Arianna Manini, Daniele Velardo, Roberto Del Bo, Laura Napoli, Federica Rizzo, Maurizio Moggio, Nereo Bresolin, Emilia Bellone, Maria Teresa Bassi, Maria Grazia D’Angelo, Giacomo Pietro Comi, Stefania Corti
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Charcot–Marie–Tooth disease type 2A (CMT2A) is a rare inherited axonal neuropathy caused by mutations in MFN2 gene, which encodes Mitofusin 2, a transmembrane protein of the outer mitochondrial membrane. We performed a cross-sectional an
Externí odkaz:
https://doaj.org/article/e84dd966ef6444348de3a316c50d7def
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:
Arianna Manini, Tommaso Bocci, Alice Migazzi, Edoardo Monfrini, Dario Ronchi, Giulia Franco, Anna De Rosa, Ferdinando Sartucci, Alberto Priori, Stefania Corti, Giacomo Pietro Comi, Nereo Bresolin, Manuela Basso, Alessio Di Fonzo
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020)
Abstract Background Mutations in TGM6 gene, encoding for transglutaminase 6 (TG6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35), a rare autosomal dominant disease marked by cerebellar degeneration and characteriz
Externí odkaz:
https://doaj.org/article/6a5f6dd8716f4871a5e1487ed447e030
Autor:
Davide Villa, Claudia Cinnante, Gloria Valcamonica, Giulia Manenti, Silvia Lanfranconi, Annalisa Colombi, Isabella Ghione, Maria Cristina Saetti, Mario D’Amico, Sara Bonato, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-5 (2020)
Abstract Background Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated wit
Externí odkaz:
https://doaj.org/article/c328acc1907a4747967a37143a14480d
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:
Marta Bortolotti, Gianluca Costamagna, Marta Mancarella, Delia Gagliardi, Silvia Lanfranconi, Alessia Marcon, Margherita Migone De Amicis, Nereo Bresolin, Stefania Corti, Giovanna Graziadei
Publikováno v:
Mediterranean Journal of Hematology and Infectious Diseases, Vol 14, Iss 1 (2022)
Sickle cell disease (SCD) refers to a group of hereditary disorders associated with clinical manifestations of variable severity. C In particular, Fat Embolism Syndrome, a rare and devastating complication of SCD, may preferentially involve non-homoz
Externí odkaz:
https://doaj.org/article/562b015d4ce2466592618f9b16733b67
Autor:
Delia Gagliardi, Irene Faravelli, Manuel Alfredo Podestà, Roberta Brusa, Eleonora Mauri, Domenica Saccomanno, Alessio Di Fonzo, Sara Bonato, Elio Scarpini, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Guillain-Barré syndrome (GBS) is an inflammatory polyradiculopathy with potentially severe complications. Clinical tools for risk stratification have been developed, but no definitive prognostic biomarker has been reported. Hyponatremia is frequent
Externí odkaz:
https://doaj.org/article/d70ecafd3323443a8f750ab4aa16fd13
Autor:
Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Stefania Corti, Giacomo P. Comi, Francesca Magri
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a co
Externí odkaz:
https://doaj.org/article/c8a7cfd8cc784fcf9c1921487ca4a297
Autor:
Francesca Magri, Simona Zanotti, Sabrina Salani, Francesco Fortunato, Patrizia Ciscato, Simonetta Gerevini, Lorenzo Maggi, Monica Sciacco, Maurizio Moggio, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9817 (2022)
Limb-girdle muscular dystrophies (LGMD) are clinically and genetically heterogenous presentations displaying predominantly proximal muscle weakness due to the loss of skeletal muscle fibers. Beta-sarcoglycanopathy (LGMDR4) results from biallelic mole
Externí odkaz:
https://doaj.org/article/a6f98241a368425997eaf10c65d55467
Autor:
Eleonora Mauri, Robertino Dilena, Antonio Boccazzi, Dario Ronchi, Daniela Piga, Fabio Triulzi, Delia Gagliardi, Roberta Brusa, Irene Faravelli, Nereo Bresolin, Francesca Magri, Stefania Corti, Giacomo P. Comi
Publikováno v:
BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
Abstract Background Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by visual loss consequent to optic nerve atrophy. In some cases, LHON is associated with heterogeneous neurological extraocular manifestations a
Externí odkaz:
https://doaj.org/article/2a91a388a7a64e5080df6489b8a566d5