Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Costanza, Simoncini"'
Autor:
Costanza Simoncini, Giulia Spadoni, Elisa Lai, Lorenza Santoni, Corrado Angelini, Giulia Ricci, Gabriele Siciliano
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease), an autosomal dominant multisystem disorder caused by a (CTG)n expansion in DMPK gene on chromosome 19q13. 3, is the most common form of inherited muscular dyst
Externí odkaz:
https://doaj.org/article/16a1efebd8d44ee48f590bbcabbaab98
Autor:
Gabriele Siciliano, Lucia Chico, Annalisa Lo Gerfo, Costanza Simoncini, Erika Schirinzi, Giulia Ricci
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Neuromuscular diseases (NMDs) are a group of often severely disabling disorders characterized by dysfunction in one of the main constituents of the motor unit, the cardinal anatomic-functional structure behind force and movement production. Irrespect
Externí odkaz:
https://doaj.org/article/93fbb14dee4f483aadc7f4fe946b4376
Autor:
Vincenzo, Montano, Michelangelo, Mancuso, Costanza, Simoncini, Francesca, Torri, Lucia, Chico, Greta, Ali, Anna, Rocchi, Fulvia, Baldinotti, Maria Adelaide, Caligo, Giovanna, Lattanzi, Elisabetta, Mattioli, Giovanna, Cenacchi, Andrea, Barison, Gabriele, Siciliano, Giulia, Ricci
Publikováno v:
Journal of Neuromuscular Diseases. 9:457-462
Background: Proximal muscle weakness may be the presenting clinical feature of different types of myopathies, including limb girdle muscular dystrophy and primary mitochondrial myopathy. LGMD1B is caused by LMNA mutation. It is characterized by progr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8088f253ee11280a5c1c981ab6e27b10
https://doi.org/10.3233/jnd-220802
https://doi.org/10.3233/jnd-220802
Autor:
Sigrid Baldanzi, Paolo Cecchi, Serena Fabbri, Ilaria Pesaresi, Costanza Simoncini, Corrado Angelini, Ubaldo Bonuccelli, Mirco Cosottini, Gabriele Siciliano
Publikováno v:
NeuroImage: Clinical, Vol 12, Iss C, Pp 190-197 (2016)
Myotonic dystrophy type 1 (DM1) has a wide phenotypic spectrum and potentially may affect central nervous system with mild to severe involvement. Our aim was to investigate grey matter (GM) and white matter (WM) structural alterations in a sample of
Externí odkaz:
https://doaj.org/article/24dd87410ef24cf6a2cff140dd76ad0a
Autor:
Tiffanie Chouleur, Christèle Etchegaray, Laura Villain, Antoine Lesur, Thomas Ferté, Marco Rossi, Laetitia Andrique, Costanza Simoncini, Anne-Sophie Giacobbi, Matteo Gambaretti, Egesta Lopci, Bethania Fernades, Gunnar Dittmar, Rolf Bjerkvig, Boris P. Hejblum, Rodolphe Thiébaut, Olivier Saut, Lorenzo Bello, Andreas Bikfalvi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::60b797257e54d7b24bb8c9362ace3c71
https://doi.org/10.2139/ssrn.4397203
https://doi.org/10.2139/ssrn.4397203
Autor:
Alessandro Salviati, Irene Simonetta, Costanza Simoncini, Michelangelo Mancuso, V. Cianci, Daniela Concolino, V. Vicenzi, Ginevra De Marchi, Antonino Tuttolomondo, V. Montano, Lucia Chico, Simona Sestito, Marialuisa Zedde, Domenico Girelli, Gabriele Siciliano, Francesco Gruosso, Antonio Pinto, S. Torri
Publikováno v:
Journal of Neurology
Background Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed1004f69eddd8d64bbe6ac519903c2
https://doi.org/10.1007/s00415-020-10044-w
https://doi.org/10.1007/s00415-020-10044-w
Autor:
Maria Teresa Dotti, Nastasia Cardone, Ilaria Taglia, Antonio Federico, Alessandro Malandrini, Gabriele Siciliano, Patrizia Formichi, Michelangelo Mancuso, Costanza Simoncini, Annalisa Lo Gerfo, Simona Salvatore, V. Montano, Elena Cardaioli
Publikováno v:
Neurological Sciences. 41:3653-3662
Diagnosis of mitochondrial diseases (MDs) is challenging, since they are multisystemic disorders, characterized by a heterogeneous symptomatology. Recently, an increase in serum levels of fibroblast growth factor 21 (FGF21) and growth differentiation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b560382bd6e4b5ed66f611cc620139d4
https://doi.org/10.1007/s10072-020-04422-5
https://doi.org/10.1007/s10072-020-04422-5
Publikováno v:
Neurological Sciences. 42:383-385
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ced1ae121cd54601f986e4700bdd05
https://doi.org/10.1007/s10072-020-04638-5
https://doi.org/10.1007/s10072-020-04638-5
Autor:
Claudia Dosi, Chiara Ticci, Tiziana Mongini, Diego Martinelli, Carlo Minetti, Paola Tonin, Anna Rubegni, Isabella Moroni, Antonio Toscano, Roberta Scalise, Valerio Carelli, Luca Bello, Daria Diodato, Chiara La Morgia, Olimpia Musumeci, Roberta Battini, Massimiliano Filosto, Silvia Marchet, Maria Alice Donati, Irene Bonato, Elia Pancheri, Gabriele Siciliano, Costanza Simoncini, Michelangelo Mancuso, Filippo M. Santorelli, Elena Pegoraro, Daniele Orsucci, Chiara Fiorillo, Maurizio Moggio, Enrico Bertini, Flavia Tubili, Stefano Doccini, M. Sciacco, Serenella Servidei, Guido Primiano, Claudio Bruno, Costanza Lamperti, Anna Ardissone, Deborah Tolomeo, V. Montano, Elena Procopio
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 2063, p 2063 (2021)
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 10; Issue 10; Pages: 2063
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 10; Issue 10; Pages: 2063
Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::912f3d02723ad1dd211e01c5db17342c
http://hdl.handle.net/2318/1858776
http://hdl.handle.net/2318/1858776
Mitochondrial diseases are the most common inheritable metabolic diseases, due to defects in oxidative phosphorylation. They are caused by mutations of nuclear or mitochondrial DNA in genes involved in mitochondrial function. The peculiarity of "mito
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b3a48dd6f6529b132bd7c52e40ec3de
http://hdl.handle.net/11568/1059945
http://hdl.handle.net/11568/1059945