Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sandro Costanzi-Porrini"'
Autor:
Sandro Costanzi Porrini, Francesco Bombelli, Roberto Massa, Antonio Petrucci, Manlio Giacanelli, Ludovico Lispi, Chiara Terracciano
Publikováno v:
Clinical Neurology and Neurosurgery. 150:84-88
Objectives Weakness and fatigue are frequent symptoms in myotonic dystrophy type 1 (DM1), mainly as a result of muscle impairment. However, neuromuscular junction (NMJ) abnormalities could play an additional role in determining these manifestations.
Autor:
Carlo Casali, Antonio Petrucci, Giovanni Antonini, Manlio Giacanelli, Annalisa Botta, Gabriella Silvestri, Elisabetta Bucci, Manuela Gibellini, Sandro Costanzi-Porrini, Emanuele Rastelli, Nicola Vanacore, Giuseppe Novelli, Carlo Piantadosi, Chiara Terracciano, Maria Laura Ester Bianchi, Elena Maria Pennisi, Anna Modoni, Roberto Massa
Publikováno v:
Neuroepidemiology. 46:191-197
Background: Prevalence estimates for the 2 forms of myotonic dystrophy types 1 and 2 (DM1 and DM2) are not exhaustive or non-available. Our aim was to estimate the minimum prevalence of DM1 and DM2 in Italy in the Rome province, applying standards of
Autor:
Mario Torso, Antonio Petrucci, Barbara Spanò, Marco Bozzali, Mara Cercignani, Giacomo Koch, Sandro Costanzi-Porrini, Giovanni Giulietti, Manlio Giacanelli, Carlo Caltagirone, Laura Serra, Ludovico Lispi, Giusy Olivito
Publikováno v:
ResearcherID
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder dominated by muscular impairment and brain dysfunctions. Although brain damage has previously been demonstrated in DM1, its associations with the genetics and clinical/neuropsychological fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591074956a2c6eab8831cc0595ecf4f5
http://hdl.handle.net/2318/1769903
http://hdl.handle.net/2318/1769903
Autor:
Fiona K. Gould, Claudia Abbruzzese, John P. McAbney, Bruno Mariani, M. Giacanelli, Sandro Costanzi Porrini, Tetsuo Ashizawa, Darren G. Monckton
Publikováno v:
Annals of neurology. 52(4)
Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat in the DMPK gene on chromosome 19q13.3. We present two siblings with DM1 who each inherited a premutation allele, (CTG)43, stably transmitted from the mother and a f
Autor:
Luana Testa, Nobuyuki Tanigaki, E. Gandini, Maria Cristina Mazzilli, S Cappellacci, I. Cascino, Sandro Costanzi Porrini, S. Trabace
Publikováno v:
Human immunology. 16(2)
The hybridoma technique was used to produce a mouse monoclonal antibody, designated as XI 21.4, which belongs to the IgG2a class. It is active in complement-dependent cytotoxicity and detects a B-cell antigenic deterinant associated with DR1, DR4, DR