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Material Type: Artigo
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The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal DementiaAbramzon, Yevgeniya A ; Fratta, Pietro ; Traynor, Bryan J ; Chia, RuthFrontiers in neuroscience, 2020-02, Vol.14, p.42-42 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Material Type: Artigo
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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosisJohnson, Janel O ; Pioro, Erik P ; Boehringer, Ashley ; Chia, Ruth ; Feit, Howard ; Renton, Alan E ; Pliner, Hannah A ; Abramzon, Yevgeniya ; Marangi, Giuseppe ; Winborn, Brett J ; Gibbs, J Raphael ; Nalls, Michael A ; Morgan, Sarah ; Shoai, Maryam ; Hardy, John ; Pittman, Alan ; Orrell, Richard W ; Malaspina, Andrea ; Sidle, Katie C ; Fratta, Pietro ; Harms, Matthew B ; Baloh, Robert H ; Pestronk, Alan ; Weihl, Conrad C ; Rogaeva, Ekaterina ; Zinman, Lorne ; Drory, Vivian E ; Borghero, Giuseppe ; Mora, Gabriele ; Calvo, Andrea ; Rothstein, Jeffrey D ; Drepper, Carsten ; Sendtner, Michael ; Singleton, Andrew B ; Taylor, J Paul ; Cookson, Mark R ; Restagno, Gabriella ; Sabatelli, Mario ; Bowser, Robert ; Chiò, Adriano ; Traynor, Bryan JNature neuroscience, 2014-05, Vol.17 (5), p.664-666 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Repeat Expansion in C9ORF72 in Alzheimer's DiseaseMajounie, Elisa ; Singleton, Andrew B ; Bassett, Susan S ; Hardy, John ; Perry, Rodney ; Traynor, Bryan J ; Abramzon, Yevgeniya ; Pletnikova, Olga ; Renton, Alan E ; Troncoso, Juan CThe New England journal of medicine, 2012-01, Vol.366 (3), p.283-284 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Material Type: Artigo
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A Genome-wide Association Study of Myasthenia GravisRenton, Alan E ; Pliner, Hannah A ; Provenzano, Carlo ; Evoli, Amelia ; Ricciardi, Roberta ; Nalls, Michael A ; Marangi, Giuseppe ; Abramzon, Yevgeniya ; Arepalli, Sampath ; Chong, Sean ; Hernandez, Dena G ; Johnson, Janel O ; Bartoccioni, Emanuela ; Scuderi, Flavia ; Maestri, Michelangelo ; Gibbs, J. Raphael ; Errichiello, Edoardo ; Chiò, Adriano ; Restagno, Gabriella ; Sabatelli, Mario ; Macek, Mark ; Scholz, Sonja W ; Corse, Andrea ; Chaudhry, Vinay ; Benatar, Michael ; Barohn, Richard J ; McVey, April ; Pasnoor, Mamatha ; Dimachkie, Mazen M ; Rowin, Julie ; Kissel, John ; Freimer, Miriam ; Kaminski, Henry J ; Sanders, Donald B ; Lipscomb, Bernadette ; Massey, Janice M ; Chopra, Manisha ; Howard, James F ; Koopman, Wilma J ; Nicolle, Michael W ; Pascuzzi, Robert M ; Pestronk, Alan ; Wulf, Charlie ; Florence, Julaine ; Blackmore, Derrick ; Soloway, Aimee ; Siddiqi, Zaeem ; Muppidi, Srikanth ; Wolfe, Gil ; Richman, David ; Mezei, Michelle M ; Jiwa, Theresa ; Oger, Joel ; Drachman, Daniel B ; Traynor, Bryan JJAMA neurology, 2015-04, Vol.72 (4), p.396-404 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron diseaseJOHNSON, Janel O ; RAPHAEL GIBBS, J ; REILLY, Mary M ; MUNTONI, Francesco ; ABRAMZON, Yevgeniya ; HOULDEN, Henry ; SINGLETON, Andrew B ; MEGARBANE, Andre ; ANDONI URTIZBEREA, J ; HERNANDEZ, Dena G ; REGHAN FOLEY, A ; AREPALLI, Sampath ; PANDRAUD, Amelie ; SIMON-SANCHEZ, Javier ; CLAYTON, PeterBrain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2875-2882 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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To Dement or Not to Dement, That Is the QuestionTraynor, Bryan J ; Abramzon, Yevgeniya AJAMA neurology, 2016-04, Vol.73 (4), p.383-384 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosisAbramzon, Yevgeniya ; Johnson, Janel O ; Scholz, Sonja W ; Taylor, J.P ; Brunetti, Maura ; Calvo, Andrea ; Mandrioli, Jessica ; Benatar, Michael ; Mora, Gabriele ; Restagno, Gabriella ; Chiò, Adriano ; Traynor, Bryan JNeurobiology of aging, 2012-09, Vol.33 (9), p.2231.e1-2231.e6 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Genetic analysis of neurodegenerative diseases in a pathology cohortBlauwendraat, Cornelis ; Pletnikova, Olga ; Geiger, Joshua T. ; Murphy, Natalie A. ; Abramzon, Yevgeniya ; Rudow, Gay ; Mamais, Adamantios ; Sabir, Marya S. ; Crain, Barbara ; Ahmed, Sarah ; Rosenthal, Liana S. ; Bakker, Catherine C. ; Faghri, Faraz ; Chia, Ruth ; Ding, Jinhui ; Dawson, Ted M. ; Pantelyat, Alexander ; Albert, Marilyn S. ; Nalls, Mike A. ; Resnick, Susan M. ; Ferrucci, Luigi ; Cookson, Mark R. ; Hillis, Argye E. ; Troncoso, Juan C. ; Scholz, Sonja W.Neurobiology of aging, 2019-04, Vol.76, p.214.e1-214.e9 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathyCaress, James B. ; Johnson, Janel O. ; Abramzon, Yevgeniya A. ; Hawkins, Gregory A. ; Gibbs, J. Raphael ; Sullivan, Elizabeth A. ; Chahal, Chamanpreet S. ; Traynor, Bryan J.Muscle & nerve, 2017-11, Vol.56 (5), p.1001-1005 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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10 |
Material Type: Artigo
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FUS mutations in sporadic amyotrophic lateral sclerosisLai, Shiao-Lin ; Abramzon, Yevgeniya ; Schymick, Jennifer C ; Stephan, Dietrich A ; Dunckley, Travis ; Dillman, Allissa ; Cookson, Mark ; Calvo, Andrea ; Battistini, Stefania ; Giannini, Fabio ; Caponnetto, Claudia ; Mancardi, Giovanni Luigi ; Spataro, Rossella ; Monsurro, Maria Rosaria ; Tedeschi, Gioacchino ; Marinou, Kalliopi ; Sabatelli, Mario ; Conte, Amelia ; Mandrioli, Jessica ; Sola, Patrizia ; Salvi, Fabrizio ; Bartolomei, Ilaria ; Lombardo, Federica ; Mora, Gabriele ; Restagno, Gabriella ; Chiò, Adriano ; Traynor, Bryan JNeurobiology of aging, 2011-03, Vol.32 (3), p.550.e1-550.e4 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |