Search Results - "My, Filomena"

Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis by Musumeci, Maria Beatrice, Cappelli, Francesco, Russo, Domitilla, Tini, Giacomo, Canepa, Marco, Milandri, Agnese, Bonfiglioli, Rachele, Di Bella, Gianluca, My, Filomena, Luigetti, Marco, Grandis, Marina, Autore, Camillo, Perlini, Stefano, Perfetto, Federico, Rapezzi, Claudio

“…The aim of this study was to assess the diagnostic accuracy of bone scintigraphy in a large multicenter cohort of patients with cardiac amyloidotic involvement…”
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Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis by Iorio, Andrea, De Lillo, Antonella, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Sabatelli, Mario, Pradotto, Luca, Mauro, Alessandro, Mazzeo, Anna, Stancanelli, Claudia, Perfetto, Federico, Frusconi, Sabrina, My, Filomena, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato

“…Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role…”
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Recurrent Miller-Fisher syndrome overlapping Guillain-Barrè syndrome and Bickerstaff brainstem encephalitis: A case report by Barbagallo, Gaetano, Caggiula, Marcella, Lupo, Angela, Rizzo, Annalisa, My, Filomena, Marulli, Daniele, Barbarini, Leonardo

“…Miller-Fisher syndrome (MFS) together with Guillan-Barré syndrome (GBS) and Bickerstaff brainstem encephalitis (BBE) are considered to form a continuous…”
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ATTRv amyloidosis Italian Registry: clinical and epidemiological data by Russo, Massimo, Obici, Laura, Bartolomei, Ilaria, Cappelli, Francesco, Luigetti, Marco, Fenu, Silvia, Cavallaro, Tiziana, Chiappini, Maria Grazia, Gemelli, Chiara, Pradotto, Luca Guglielmo, Manganelli, Fiore, Leonardi, Luca, My, Filomena, Sampaolo, Simone, Briani, Chiara, Gentile, Luca, Stancanelli, Claudia, Di Buduo, Eleonora, Pacciolla, Paolo, Salvi, Fabrizio, Casagrande, Silvia, Bisogni, Giulia, Calabrese, Daniela, Vanoli, Fiammetta, Di Iorio, Giuseppe, Antonini, Giovanni, Santoro, Lucio, Mauro, Alessandro, Grandis, Marina, Di Girolamo, Marco, Fabrizi, Gian Maria, Pareyson, Davide, Sabatelli, Mario, Perfetto, Federico, Rapezzi, Claudio, Merlini, Giampaolo, Mazzeo, Anna, Vita, Giuseppe

“…ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, and Cyprus. A national Registry was developed to…”
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Real‐life experience with inotersen in hereditary transthyretin amyloidosis with late‐onset phenotype: Data from an early‐access program in Italy by Luigetti, Marco, Antonini, Giovanni, Di Paolantonio, Andrea, Gentile, Luca, Grandis, Marina, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mazzeo, Anna, Mussinelli, Roberta, My, Filomena, Obici, Laura, Maria Pennisi, Elena, Romozzi, Marina, Russo, Massimo, Sabatelli, Mario, Salvalaggio, Alessandro, Tagliapietra, Matteo, Tozza, Stefano

“…Background and purpose Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a dominantly inherited, adult‐onset, progressive, and fatal disease caused by…”
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Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy by Gentile, Luca, Mazzeo, Anna, Briani, Chiara, Casagrande, Silvia, De Luca, Marcella, Fabrizi, Gian Maria, Gagliardi, Christian, Gemelli, Chiara, Forcina, Francesca, Grandis, Marina, Guglielmino, Valeria, Iabichella, Giacomo, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mussinelli, Roberta, My, Filomena, Occhipinti, Giuseppe, Fenu, Silvia, Russo, Massimo, Romano, Angela, Salvalaggio, Alessandro, Tagliapietra, Matteo, Tozza, Stefano, Palladini, Giovanni, Obici, Laura, Luigetti, Marco

“…Background Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the transthyretin gene. In…”
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Correction to: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy by Gentile, Luca, Mazzeo, Anna, Briani, Chiara, Casagrande, Silvia, De Luca, Marcella, Fabrizi, Gian Maria, Gagliardi, Christian, Gemelli, Chiara, Forcina, Francesca, Grandis, Marina, Guglielmino, Valeria, Iabichella, Giacomo, Leonardi, Luca, Lozza, Alessandro, Manganelli, Fiore, Mussinelli, Roberta, My, Filomena, Occhipinti, Giuseppe, Fenu, Silvia, Russo, Massimo, Romano, Angela, Salvalaggio, Alessandro, Tagliapietra, Matteo, Tozza, Stefano, Palladini, Giovanni, Obici, Laura, Luigetti, Marco

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Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis by Iorio, Andrea, De Angelis, Flavio, Di Girolamo, Marco, Luigetti, Marco, Pradotto, Luca G, Mazzeo, Anna, Frusconi, Sabrina, My, Filomena, Manfellotto, Dario, Fuciarelli, Maria, Polimanti, Renato

“…Transthyretin (TTR) amyloidosis is a hereditary disease with a complex genotype-phenotype correlation. We conducted a literature survey to define the clinical…”
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A case of Anderson-Fabry disease: a multidisciplinary approach for diagnosis and follow up by Zito, Anna, De Pascalis, Antonio, Armeni, Annarita, Ria, Paolo, Barbarini, Leonardo, Caggiula, Marcella, My, Filomena, Barbarini, Silvia, Trianni, Giorgio, Napoli, Marcello

“…Fabry disease (also known as Anderson-Fabry disease, angiocheratoma corporis diffusum, diffuse angiocheratoma) is a rare tesaurismosis linked to the deficiency…”
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Preprogramming motor dysfunction in paroxysmal kinesigenic choreoathetosis by Fattapposta, Francesco, My, Filomena, Valente, Donatella, Quadrini, Rodolfo, D'Alessio, Carmelo, Amabile, Giuseppe

“…Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by abnormal involuntary movements precipitated by sudden movement. As a result, a possible…”
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