Search Results - "Abramzon, Yevgeniya"

The Overlapping Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia by Abramzon, Yevgeniya A, Fratta, Pietro, Traynor, Bryan J, Chia, Ruth

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two diseases that form a broad neurodegenerative continuum. Considerable effort has…”
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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis by Johnson, 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 J

“…The authors identify mutations in the MATR3 gene as a cause of ALS and dementia in several families. MATR3 is known to bind the ALS-associated protein TDP-43,…”
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Repeat Expansion in C9ORF72 in Alzheimer's Disease by Majounie, Elisa, Singleton, Andrew B, Bassett, Susan S, Hardy, John, Perry, Rodney, Traynor, Bryan J, Abramzon, Yevgeniya, Pletnikova, Olga, Renton, Alan E, Troncoso, Juan C

“…A hexanucleotide repeat expansion in the gene C9ORF72 has been implicated in the development of amyotrophic lateral sclerosis and frontotemporal dementia. The…”
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A genome-wide association study of myasthenia gravis by Renton, 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, Jr, 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 J

“…Myasthenia gravis is a chronic, autoimmune, neuromuscular disease characterized by fluctuating weakness of voluntary muscle groups. Although genetic factors…”
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease by JOHNSON, 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, Peter

“…Brown-Vialetto-Van Laere syndrome was first described in 1894 as a rare neurodegenerative disorder characterized by progressive sensorineural deafness in…”
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Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis by Abramzon, 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 J

“…Abstract We recently reported that mutations in the valosin-containing protein (VCP) gene are a cause of 1%–2% of familial amyotrophic lateral sclerosis (ALS)…”
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Genetic analysis of neurodegenerative diseases in a pathology cohort by Blauwendraat, 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.

“…Molecular genetic research provides unprecedented opportunities to examine genotype-phenotype correlations underlying complex syndromes. To investigate…”
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To Dement or Not to Dement, That Is the Question by Traynor, Bryan J, Abramzon, Yevgeniya A

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Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar‐onset neuropathy by Caress, James B., Johnson, Janel O., Abramzon, Yevgeniya A., Hawkins, Gregory A., Gibbs, J. Raphael, Sullivan, Elizabeth A., Chahal, Chamanpreet S., Traynor, Bryan J.

“…ABSTRACT Introduction Progressive bulbar motor neuropathy is primarily caused by bulbar‐onset ALS. Hereditary amyloidosis type IV also presents with a bulbar…”
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FUS mutations in sporadic amyotrophic lateral sclerosis by Lai, 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 J

“…Abstract Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis…”
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Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia and the Potential for Discovering New Genes and Pathways Underlying These Neurological Disorders by Abramzon, Yevgeniya

“…Despite tremendous progress in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) genetic research over the last two decades, only 20% to…”
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD by Renton, Alan E., Majounie, Elisa, Waite, Adrian, Simón-Sánchez, Javier, Rollinson, Sara, Gibbs, J. Raphael, Schymick, Jennifer C., Laaksovirta, Hannu, van Swieten, John C., Myllykangas, Liisa, Kalimo, Hannu, Paetau, Anders, Abramzon, Yevgeniya, Remes, Anne M., Kaganovich, Alice, Scholz, Sonja W., Duckworth, Jamie, Ding, Jinhui, Harmer, Daniel W., Hernandez, Dena G., Johnson, Janel O., Mok, Kin, Ryten, Mina, Trabzuni, Danyah, Guerreiro, Rita J., Orrell, Richard W., Neal, James, Murray, Alex, Pearson, Justin, Jansen, Iris E., Sondervan, David, Seelaar, Harro, Blake, Derek, Young, Kate, Halliwell, Nicola, Callister, Janis Bennion, Toulson, Greg, Richardson, Anna, Gerhard, Alex, Snowden, Julie, Mann, David, Neary, David, Nalls, Michael A., Peuralinna, Terhi, Jansson, Lilja, Isoviita, Veli-Matti, Kaivorinne, Anna-Lotta, Hölttä-Vuori, Maarit, Ikonen, Elina, Sulkava, Raimo, Benatar, Michael, Wuu, Joanne, Chiò, Adriano, Restagno, Gabriella, Borghero, Giuseppe, Sabatelli, Mario, Heckerman, David, Rogaeva, Ekaterina, Zinman, Lorne, Rothstein, Jeffrey D., Sendtner, Michael, Drepper, Carsten, Eichler, Evan E., Alkan, Can, Abdullaev, Ziedulla, Pack, Svetlana D., Dutra, Amalia, Pak, Evgenia, Hardy, John, Singleton, Andrew, Williams, Nigel M., Heutink, Peter, Pickering-Brown, Stuart, Morris, Huw R., Tienari, Pentti J., Traynor, Bryan J.

“…The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes…”
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Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis by Noyce, Alastair J., Hemani, Gibran, Mora, Gabriele, Bartolomei, Ilaria, Benigni, Michele, Borghero, Giuseppe, Brunetti, Maura, Calvo, Andrea, Cammarosano, Stefania, Cannas, Antonino, Caponnetto, Claudia, Casale, Federico, Cavallaro, Sebastiano, Chiò, Adriano, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Corrado, Lucia, Costantino, Emanuela, D'Alfonso, Sandra, Femiano, Cinzia, Ferrarese, Carlo, Fini, Nicola, Floris, Gianluca, Grassano, Maurizio, Lattante, Serena, Logroscino, Giancarlo, Loi, Daniela, Mancardi, Gianluigi, Mandich, Paola, Manera, Umberto, Marinou, Kalliopi, Marrali, Giuseppe, Marrosu, Maria Giovanna, Mazzini, Letizia, Melis, Maurizio, Messina, Sonia, Mora, Gabriele, Occhineri, Patrizia, Origone, Paola, Pani, Carla, Petrucci, Antonio, Pirisi, Angelo, Restagno, Gabriella, Ricci, Claudia, Riva, Nilo, Sabatelli, Mario, Santarelli, Marialuisa, Spataro, Rossella, Tanel, Raffaella, Tremolizzo, Lucio, Volanti, Paolo, Zollino, Marcella, Arepalli, Sampath, Bowser, Robert, Broach, James, Camu, William, Chia, Ruth, Chiò, Adriano, Ding, Jinhui, Dunckley, Travis L., Eicher, John D., Faghri, Faraz, Feldman, Eva, Fratta, Pietro, Geiger, Joshua T., Gerhard, Glenn, Hardy, John, Harms, Matthew B., Heiman‐Patterson, Terry D., Kamel, Freya, MacGowan, Daniel J.L., Maragakis, Nicholas J., Murphy, Natalie A., Myllykangas, Liisa, Nalls, Mike A., Nicolas, Aude, Orrell, Richard W., Pamphlett, Roger, Pickering‐Brown, Stuart, Pioro, Erik, Pliner, Hannah A., Pulst, Stefan M., Ravits, John M., Rothstein, Jeffrey D., Salvi, Erika, Sendtner, Michael, Simmons, Zachary, Stone, David C., Sulkava, Raimo, Troncoso, Juan C., Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Tienari, Pentti J., Stone, David J., Nalls, Mike A., Singleton, Andrew B., Traynor, Bryan J.

“…Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression and…”
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study by Majounie, Elisa, PhD, Renton, Alan E, PhD, Mok, Kin, MSc, Dopper, Elise GP, Waite, Adrian, PhD, Rollinson, Sara, PhD, Chiò, Adriano, MD, Restagno, Gabriella, MD, Nicolaou, Nayia, MSc, Simon-Sanchez, Javier, PhD, van Swieten, John C, Prof, Abramzon, Yevgeniya, Johnson, Janel O, PhD, Sendtner, Michael, Prof, Pamphlett, Roger, MD, Orrell, Richard W, MD, Mead, Simon, MD, Sidle, Katie C, MD, Houlden, Henry, Prof, Rohrer, Jonathan D, MD, Morrison, Karen E, Prof, Pall, Hardev, MD, Talbot, Kevin, Prof, Ansorge, Olaf, MD, Hernandez, Dena G, MSc, Arepalli, Sampath, MS, Sabatelli, Mario, MD, Mora, Gabriele, MD, Corbo, Massimo, MD, Giannini, Fabio, MD, Calvo, Andrea, MD, Englund, Elisabet, MD, Borghero, Giuseppe, MD, Floris, Gian Luca, MD, Remes, Anne M, Prof, Laaksovirta, Hannu, MD, McCluskey, Leo, MD, Trojanowski, John Q, Prof, Van Deerlin, Vivianna M, MD, Schellenberg, Gerard D, Prof, Nalls, Michael A, PhD, Drory, Vivian E, MD, Lu, Chin-Song, Prof, Yeh, Tu-Hsueh, MD, Ishiura, Hiroyuki, MD, Takahashi, Yuji, MD, Tsuji, Shoji, Prof, Le Ber, Isabelle, MD, Brice, Alexis, Prof, Drepper, Carsten, PhD, Williams, Nigel, PhD, Kirby, Janine, PhD, Shaw, Pamela, Prof, Hardy, John, Prof, Tienari, Pentti J, MD, Heutink, Peter, Prof, Morris, Huw R, MD, Pickering-Brown, Stuart, Prof, Traynor, Bryan J, Dr

“…Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large…”
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Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study by Chia, Ruth, Saez-Atienzar, Sara, Murphy, Natalie, Chiò, Adriano, Blauwendraat, Cornelis, Roda, Ricardo H, Tienari, Pentti J, Kaminski, Henry J, Ricciardi, Roberta, Guida, Melania, De Rosa, Anna, Petrucci, Loredana, Evoli, Amelia, Provenzano, Carlo, Drachman, Daniel B, Traynor, Bryan J

“…Myasthenia gravis is a chronic autoimmune disease characterized by autoantibody-mediated interference of signal transmission across the neuromuscular junction…”
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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases by Blauwendraat, Cornelis, Faghri, Faraz, Pihlstrom, Lasse, Geiger, Joshua T, Elbaz, Alexis, Lesage, Suzanne, Corvol, Jean-Christophe, May, Patrick, Nicolas, Aude, Abramzon, Yevgeniya, Murphy, Natalie A, Gibbs, J. Raphael, Ryten, Mina, Ferrari, Raffaele, Bras, Jose, Guerreiro, Rita, Williams, Julie, Sims, Rebecca, Lubbe, Steven, Hernandez, Dena G, Mok, Kin Y, Robak, Laurie, Campbell, Roy H, Rogaeva, Ekaterina, Traynor, Bryan J, Chia, Ruth, Chung, Sun Ju, Hardy, John A, Brice, Alexis, Wood, Nicholas W, Houlden, Henry, Shulman, Joshua M, Morris, Huw R, Gasser, Thomas, Krüger, Rejko, Heutink, Peter, Sharma, Manu, Simón-Sánchez, Javier, Nalls, Mike A, Singleton, Andrew B, Scholz, Sonja W

“…Abstract Genetics has proven to be a powerful approach in neurodegenerative diseases research, resulting in the identification of numerous causal and risk…”
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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 by CHIO, Adriano, BORGHERO, Giuseppe, PUGLIATTI, Maura, SOTGIU, Maria Alessandra, MURRU, Maria Rita, MARROSU, Maria Giovanna, MARROSU, Francesco, MARINOU, Kalliopi, MANDRIOLI, Jessica, SOLA, Patrizia, CAPONNETTO, Claudia, MANCARDI, Gianluigi, RESTAGNO, Gabriella, MANDICH, Paola, BELLA, Vincenzo La, SPATARO, Rossella, CONTE, Amelia, MONSURRO, Maria Rosaria, TEDESCHI, Gioacchino, PISANO, Fabrizio, BARTOLOMEI, Ilaria, SALVI, Fabrizio, PINTER, Giuseppe Lauria, MORA, Gabriele, SIMONE, Isabella, LOGROSCINO, Giancarlo, GAMBARDELLA, Antonio, QUATTRONE, Aldo, LUNETTA, Christian, VOLANTI, Paolo, ZOLLINO, Marcella, PENCO, Silvana, BATTISTINI, Stefania, RENTON, Alan E, DREPPER, Carsten, MAJOUNIE, Elisa, ABRAMZON, Yevgeniya, CONFORTI, Francesca Luisa, GIANNINI, Fabio, CORBO, Massimo, SABATELLI, Mario, TRAYNOR, Bryan J, SENDTNER, Michael, BRUNETTI, Maura, OSSOLA, Irene, CALVO, Andrea

“…A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be…”
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Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types by Saez-Atienzar, Sara, Bandres-Ciga, Sara, Langston, Rebekah G, Kim, Jonggeol J, Choi, Shing Wan, Reynolds, Regina H, Abramzon, Yevgeniya, Dewan, Ramita, Ahmed, Sarah, Landers, John E, Chia, Ruth, Ryten, Mina, Cookson, Mark R, Nalls, Michael A, Chiò, Adriano, Traynor, Bryan J

“…Despite the considerable progress in unraveling the genetic causes of amyotrophic lateral sclerosis (ALS), we do not fully understand the molecular mechanisms…”
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Large C9orf72 repeat expansions are not a common cause of Parkinson's disease by Majounie, Elisa, Abramzon, Yevgeniya, Renton, Alan E, Keller, Margaux F, Traynor, Bryan J, Singleton, Andrew B

“…Abstract The concept of a pathological overlap between neurodegenerative disorders is gaining momentum. We sought to determine the contribution of C9orf72…”
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A de novo missense mutation of the FUS gene in a “true” sporadic ALS case by Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Ossola, Irene, Brunetti, Maura, Sbaiz, Luca, Lai, Shiao-lin, Abramzon, Yevgeniya, Traynor, Bryan J, Restagno, Gabriella

“…Abstract Mutations in the Cu/Zn superoxide dismutase ( SOD1 ), transactive response (TAR)-DNA binding protein ( TARDBP ) and fused in sarcoma ( FUS ) genes…”
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