Zobrazeno 1 - 10
of 41
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:
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:
Elena Caldarazzo Ienco, Costanza Simoncini, Daniele Orsucci, Loredana Petrucci, Massimiliano Filosto, Michelangelo Mancuso, Gabriele Siciliano
Publikováno v:
International Journal of Alzheimer's Disease, Vol 2011 (2011)
Mitochondria, the powerhouse of the cell, play a critical role in several metabolic processes and apoptotic pathways. Multiple evidences suggest that mitochondria may be crucial in ageing-related neurodegenerative diseases. Moreover, mitochondrial ha
Externí odkaz:
https://doaj.org/article/0849e190dd33475c9ed710a0d86afd85
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
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
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
Publikováno v:
Neurological Sciences. 42:383-385
Autor:
Michelangelo Mancuso, R. Costa, Greta Alì, Gabriele Siciliano, Costanza Simoncini, V. Montano
Publikováno v:
Case Reports in Neurological Medicine, Vol 2019 (2019)
Case Reports in Neurological Medicine
Case Reports in Neurological Medicine, Vol 2018 (2018)
Case Reports in Neurological Medicine
Case Reports in Neurological Medicine, Vol 2018 (2018)
Mitochondrial (mt) tRNA (MTT) gene mutations are an important cause of mitochondrial diseases and are associated with a wide range of clinical presentations. Most mutations fall into three mitochondrial tRNAs (tRNAIle, tRNALeu (UUR), and tRNALys) and