Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Filomena Caria"'
Autor:
Loris Poli, Beatrice Labella, Stefano Cotti Piccinelli, Filomena Caria, Barbara Risi, Simona Damioli, Alessandro Padovani, Massimiliano Filosto
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Amyloidoses represent a group of diseases characterized by the pathological accumulation in the extracellular area of insoluble misfolded protein material called “amyloid”. The damage to the tissue organization and the direct toxicity of the amyl
Externí odkaz:
https://doaj.org/article/d65f099136a5472c8c92c484a1116ab2
Autor:
Stefano Cotti Piccinelli, Matteo Tagliapietra, Tiziana Cavallaro, Beatrice Labella, Barbara Risi, Filomena Caria, Simona Damioli, Loris Poli, Alessandro Padovani, Sergio Ferrari, Massimiliano Filosto
Publikováno v:
Biomedicines, Vol 11, Iss 9, p 2468 (2023)
The extent of nerve involvement in leprosy is highly variable in distribution and clinical presentation. Mononeuropathies, multiple mononeuropathies, and polyneuropathies can present both in the context of a cutaneous and/or systemic picture and in t
Externí odkaz:
https://doaj.org/article/f66554232a7b4971befb624256e0da09
Autor:
Beatrice Labella, Stefano Cotti Piccinelli, Barbara Risi, Filomena Caria, Simona Damioli, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto
Publikováno v:
Biomolecules, Vol 13, Iss 9, p 1279 (2023)
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease (IOPD) an
Externí odkaz:
https://doaj.org/article/978705e3eefe40fb8e74c1661f3f3103
Autor:
Beatrice Labella, Gaetana Lanzi, Stefano Cotti Piccinelli, Filomena Caria, Simona Damioli, Barbara Risi, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto
Publikováno v:
Brain Sciences, Vol 13, Iss 8, p 1178 (2023)
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the ACADVL gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyo
Externí odkaz:
https://doaj.org/article/f5347bd49a73490cb7331b28aed8a63b
Autor:
Barbara Risi, Stefano Cotti Piccinelli, Stefano Gazzina, Beatrice Labella, Filomena Caria, Simona Damioli, Loris Poli, Alessandro Padovani, Massimiliano Filosto
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 15, p 5036 (2023)
The MUNIX technique allows us to estimate the number and size of surviving motor units (MUs). Previous studies on ALS found correlations between MUNIX and several clinical measures, but its potential role as a predictor of disease progression rate (D
Externí odkaz:
https://doaj.org/article/23a00776388c4ea99d5bdb509e5c5dfe
History of Migraine and Volume of Brain Infarcts: The Italian Project on Stroke at Young Age (IPSYS)
Autor:
Valeria De Giuli, Michele Besana, Mario Grassi, Marialuisa Zedde, Andrea Zini, Corrado Lodigiani, Simona Marcheselli, Anna Cavallini, Giuseppe Micieli, Maurizia Rasura, Maria Luisa DeLodovici, Giampaolo Tomelleri, Nicoletta Checcarelli, Alberto Chiti, Elisa Giorli, Massimo Del Sette, Lucia Tancredi, Antonella Toriello, Massimiliano Braga, Andrea Morotti, Loris Poli, Filomena Caria, Massimo Gamba, Rosalba Patella, Alessandra Spalloni, Anna Maria Simone, Rosario Pascarella, Sandro Beretta, Enrico Fainardi, Alessandro Padovani, Roberto Gasparotti, Alessandro Pezzini
Publikováno v:
Journal of Stroke, Vol 21, Iss 3, Pp 324-331 (2019)
Background and Purpose Migraine has been shown to increase cerebral excitability, promote rapid infarct expansion into tissue with perfusion deficits, and result in larger infarcts in animal models of focal cerebral ischemia. Whether these effects oc
Externí odkaz:
https://doaj.org/article/19de8f21961e4ccb9a828b2afde77780
Autor:
Massimo Gamba, Nicola Gilberti, Enrico Premi, Angelo Costa, Michele Frigerio, Dikran Mardighian, Veronica Vergani, Raffaella Spezi, Ilenia Delrio, Andrea Morotti, Loris Poli, Valeria De Giuli, Filomena Caria, Alessandro Pezzini, Roberto Gasparotti, Alessandro Padovani, Mauro Magoni
Publikováno v:
BMC Neurology, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background endovascular therapy (ET) is the standard of care for anterior circulation acute ischemic stroke (AIS) caused by large vessel occlusion (LVO). The role of adjunctive intravenous thrombolysis (IVT) in these patients remains unclear
Externí odkaz:
https://doaj.org/article/06dc597ebfa54ea7a1b8caef2b63e315
Autor:
Stefano Cotti Piccinelli, Maria T. Bassi, Andrea Citterio, Fiore Manganelli, Stefano Tozza, Filippo M. Santorelli, Serena Gallo Cassarino, Filomena Caria, Enrico Baldelli, Anna Galvagni, Lucio Santoro, Alessandro Padovani, Massimiliano Filosto
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
CAPN1 encodes calpain-1, a large subunit of μ-calpain, a calcium-activated cysteine protease widely present in the central nervous system. Mutations in CAPN1 have recently been identified in a complicated form of Hereditary Spastic Paraplegia (HSP)
Externí odkaz:
https://doaj.org/article/c07add4d05714af183541debc746d4e7
Autor:
Massimiliano Filosto, Stefano Cotti Piccinelli, Anna Pichiecchio, Olimpia Musumeci, Anna Galvagni, Filomena Caria, Serena Gallo Cassarino, Enrico Baldelli, Raimondo Vitale, Alessandro Padovani, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a seve
Externí odkaz:
https://doaj.org/article/5a47e193af94469481b17a6f96f686a1
Autor:
Massimiliano Filosto, Stefano Cotti Piccinelli, Filomena Caria, Serena Gallo Cassarino, Enrico Baldelli, Anna Galvagni, Irene Volonghi, Mauro Scarpelli, Alessandro Padovani
Publikováno v:
Journal of Clinical Medicine, Vol 7, Iss 11, p 389 (2018)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues
Externí odkaz:
https://doaj.org/article/f1aca5fce76845de97c26cf86b9b7218