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Clinical Pregenetic Screening for Stroke Monogenic Diseases

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By Giorgio B. Boncoraglio, Paola Carrera, Eugenio A. Parati, Giorgio Bono, Antonio Colombo, Alessandro Padovani, Simona Marcheselli, Maria Sessa, Giancarlo Comi, Giampaolo Merlini, Caspar Grond-Ginsbach, Anna Bersano, Hugh Stephen Markus, Silvana Quaglini, Eloisa Arbustini, Silvia Lanfranconi, Giuseppe Micieli, Franco Taroni, Cinzia Gellera, Silvia Baratta, Silvana Penco, Lorena Mosca, Maurizia Grasso, Maurizio Ferrari, Cristina Cereda, Gaetano Grieco, Stefania Corti, Dario Ronchi, Maria Teresa Bassi, Laura Obici, Alessando Pezzini, Elena P. Verrengia, Francesca Mazucchelli, Davide Zarcone, Maria Vittoria Calloni, Patrizia Perrone, Bianca Maria Bordo, Anna Cavallini, Simone Beretta, Carlo Ferrarese, Cristina Motto, Elio Agostoni, Graziella Molini, Francesco Sasanelli, Manuel Corato, Nicoletta Checcarelli, Mario Guidotti, Davide Uccellini, Erminio Capitani, Lucia Tancredi, Marco Arnaboldi, Barbara Incorvaia, Carlo Sebastiano Tadeo, Laura Fusi, Giampiero Grampa, Nadia Trobia, Giacomo Pietro Comi, Massimiliano Braga, Paolo Vitali, Pierluigi Baron
| stroke.ahajournals.org
Background and Purpose—Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease Methods—We enrolled a...
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