Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Authors: Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Camu, William, Chia, Ruth, Chio, Adriano, Cooper-Knock, John, Cusi, Daniele, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Goutman, Stephen A., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, Guissart, Claire, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pickering-Brown, Stuart, Pioro, Erik P., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Salvi, Erika, Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Bella, Eleonora Dalla, D'Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Monsurrò, Maria Rosaria, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pirisi, Angelo, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta, Silani, Vincenzo, Fogh, Isabella, Ticozzi, Nicola, Ratti, Antonia, Tiloca, Cinzia, Peverelli, Silvia, Gellera, Cinzia, Pinter, Giuseppe Lauria, Taroni, Franco, Pensato, Viviana, Castellotti, Barbara, Comi, Giacomo P., Corti, Stefania, Del Bo, Roberto, Cereda, Cristina, Ceroni, Mauro, Gagliardi, Stella, Corrado, Lucia, Mazzini, Letizia, Sorarù, Gianni, Raggi, Flavia, Siciliano, Gabriele, Simoncini, Costanza, Lo Gerfo, Annalisa, Filosto, Massimiliano, Inghilleri, Maurizio, Ferlini, Alessandra, Corcia, Philippe, Couratier, Philippe, Vourc'h, Patrick, Hardiman, Orla, McLaughlin, Russell, Gotkine, Marc, Drory, Vivian, van den Veldink, Jan H., Berg, Leonard H., de Carvalho, Mamede, Mora Pardina, Jesus S., Povedano, Monica, Andersen, Peter, Weber, Markus, Başak, Ayşe Nazlı, Al-Chalabi, Ammar, Shaw, Chris, Morrison, Karen E., Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Dalgard, Clifton L., Hupalo, Daniel N., McGrath Martinez, Elisa, Soltis, Anthony R., Sukumar, Gauthaman, Viollet, Coralie, Wilkerson, Matthew D., Saez-Atienzar, Sara ^{1, 2, 80, ∗}, Souza, Cleide dos Santos ^{3, 80}, Beal, Selina N. ³, Lorenzini, Ileana ⁴, Huang, Ruili ⁵, Levy, Jennifer ⁴, Burciu, Camelia ⁴, Jones, Ashley ⁷, Dewan, Ramita ¹, van Vugt, Joke J.F.A. ¹¹, van Rheenen, Wouter ¹¹, Tunca, Ceren ¹², Bayraktar, Elif ¹², Xia, Menghang ⁵, Iacoangeli, Alfredo ^{7, 13, 14}, Shatunov, Aleksey ⁷, Verde, Federico ^{9, 15}, Kenna, Kevin ¹¹, Al Khleifat, Ahmad ⁷, Opie-Martin, Sarah ⁷, Piccinelli, Stefano Cotti ^{18, 19}, Padovani, Alessandro ¹⁹, Galimberti, Daniela ^{34, 35}, Serpente, Maria ³⁴, Fenoglio, Chiara ^{34, 35}, Scarpini, Elio ³⁴, Curtis, Charles J. ^{41, 42}, Lee, Sang Hyuck ^{41, 42}, Chung, Raymond ^{41, 42}, Patel, Hamel ^{13, 42}, Cooper-Knock, Johnathan ⁴⁴, Breen, Gerome ^{41, 42}, Dobson, Richard J.B. ^{45, 46, 47, 48, 49}, van den Berg, Leonard H. ¹¹, D’Alfonso, Sandra ¹⁰, Chandran, Siddharthan ^{58, 59}, Pal, Suvankar ^{58, 60}, Johnson, Kory ⁶², Doucet-O’Hare, Tara ⁶³, Pasternack, Nicholas ⁶⁴, Wang, Tongguang ⁶⁴, Nath, Avindra ⁶⁴, Veldink, Jan H. ¹¹, Chiò, Adriano ^{24, 25, 26}, Sattler, Rita ⁴, Shaw, Christopher E. ^{69, 70, 80}, Ferraiuolo, Laura ^{71, 80}

Source: In Cell Genomics 13 November 2024 4(11)

Genome sequence analyses identify novel risk loci for multiple system atrophy

Authors: Chia, Ruth, Ray, Anindita, Shah, Zalak, Ding, Jinhui, Ruffo, Paola, Fujita, Masashi, Menon, Vilas, Saez-Atienzar, Sara, Reho, Paolo, Kaivola, Karri, Walton, Ronald L., Reynolds, Regina H., Karra, Ramita, Sait, Shaimaa, Akcimen, Fulya, Diez-Fairen, Monica, Alvarez, Ignacio, Fanciulli, Alessandra, Stefanova, Nadia, Seppi, Klaus, Duerr, Susanne, Leys, Fabian, Krismer, Florian, Sidoroff, Victoria, Zimprich, Alexander, Pirker, Walter, Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G., Tison, François, Pavy-Le Traon, Anne, Pellecchia, Maria Teresa, Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, Jaime, Torres, Soraya, Mir, Pablo, Periñán, Maria Teresa, Proukakis, Christos, Chelban, Viorica, Wu, Lesley, Goh, Yee Y., Parkkinen, Laura, Hu, Michele T., Kobylecki, Christopher, Saxon, Jennifer A., Rollinson, Sara, Garland, Emily, Biaggioni, Italo, Litvan, Irene, Rubio, Ileana, Alcalay, Roy N., Kwei, Kimberly T., Lubbe, Steven J., Mao, Qinwen, Flanagan, Margaret E., Castellani, Rudolph J., Khurana, Vikram, Ndayisaba, Alain, Calvo, Andrea, Mora, Gabriele, Canosa, Antonio, Floris, Gianluca, Bohannan, Ryan C., Moore, Anni, Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Kaufmann, Horacio, Kim, Changyoun, Iba, Michiyo, Masliah, Eliezer, Dawson, Ted M., Rosenthal, Liana S., Pantelyat, Alexander, Albert, Marilyn S., Pletnikova, Olga, Troncoso, Juan C., Infante, Jon, Lage, Carmen, Sánchez-Juan, Pascual, Serrano, Geidy E., Beach, Thomas G., Pastor, Pau, Morris, Huw R., Albani, Diego, Clarimon, Jordi, Wenning, Gregor K., Hardy, John A., Ryten, Mina, Topol, Eric, Torkamani, Ali, Chiò, Adriano, Bennett, David A., De Jager, Philip L., Low, Philip A., Singer, Wolfgang, Cheshire, William P., Wszolek, Zbigniew K., Dickson, Dennis W., Traynor, Bryan J., Gibbs, J. Raphael, Dalgard, Clifton L., Ross, Owen A., Houlden, Henry, Scholz, Sonja W.

Source: In Neuron 3 July 2024 112(13):2142-2156

Reply to Zhu et al. : Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis

Authors: Chia, Ruth, Saez-Atienzar, Sara, Drachman, Daniel B., Traynor, Bryan J.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2022 Sep 01. 119(36), 1-2.

Access URL: https://www.jstor.org/stable/27206927

Correction: Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study

Authors: International Myasthenia Gravis Genomics Consortium, 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.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2022 Jun 01. 119(23), 1-1.

Access URL: https://www.jstor.org/stable/27152096

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Authors: Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Dalgard, Clifton L., Black, Sandra E., Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A., Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Morris, Huw R., Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J., Troakes, Claire, Albert, Marilyn S., Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Boeve, Bradley F., Dawson, Ted M., Dickson, Dennis W., Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E., Foroud, Tatiana M., Ghetti, Bernardino, Gibbs, J. Raphael, Goate, Alison, Goldstein, David S., Graff-Radford, Neill R., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Pletnikova, Olga, Renton, Alan E., Resnick, Susan M., Rosenthal, Liana S., Ross, Owen A., Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram G., Sidransky, Ellen, Tanaka, Toshiko, Tayebi, Nahid, Topol, Eric, Torkamani, Ali, Troncoso, Juan C., Woltjer, Randy, Wszolek, Zbigniew K., Scholz, Sonja W., Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J.L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Tienari, Pentti, Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, De Jager, Philip L.

Source: In Cell Genomics 14 June 2023 3(6)

Pediatric cochlear implant explantation and reimplantation over a 32-year period

Authors: Hou, Vincent, Tellez, Paula, Fandiño, Marcela, Ospina, Juan, Chia, Ruth, Bergstrom, Raegan, Riding, Keith, Kozak, Jessica, Kozak, Emelie, Pauwels, Julie, Kozak, Frederick

Source: In International Journal of Pediatric Otorhinolaryngology March 2023 166

Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis : a genome-wide association study

Authors: 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.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2022 Feb 01. 119(5), 1-10.

Access URL: https://www.jstor.org/stable/27117750

Unraveling the complex interplay between genes, environment, and climate in ALS

Authors: Vasta, Rosario, Chia, Ruth, Traynor, Bryan J., Chiò, Adriano

Source: In eBioMedicine January 2022 75

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Authors: Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N., Martinez, Elisa McGrath, Pollard, Harvey B., Sukumar, Gauthaman, Soltis, Anthony R., Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D., Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D., Kost, Jason, Scotter, Emma L., Kenna, Kevin P., Miller, Jack W., Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Rademakers, Rosa, van Blitterswijk, Marka, Boylan, Kevin B., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Leblond-Manry, Claire, Rouleau, Guy A., Hardiman, Orla, Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Jr., Shaw, Christopher E., Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Brittain, H., Caulfield, Mark J., Chan, Georgia C., Craig, Clare E.H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thomas, Ellen R.A., Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Arepalli, Sampath, Auluck, Pavan, Baloh, Robert H., Bowser, Robert, Brice, Alexis, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Corcia, Philippe, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Faghri, Faraz, Farren, Jennifer, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Goutman, Stephen A., Heiman-Patterson, Terry D., Hernandez, Dena G., Hoover, Ben, Jansson, Lilja, Kamel, Freya, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Sendtner, Michael, Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Den Bosch, Ludo, Zinman, Lorne, Albani, Diego, Borroni, Barbara, Padovani, Alessandro, Bruni, Amalia, Clarimon, Jordi, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Danek, Adrian, Galimberti, Daniela, Scarpini, Elio, Serpente, Maria, Graff, Caroline, Chiang, Huei-Hsin, Khoshnood, Behzad, Öijerstedt, Linn, Morris, Christopher M., Nacmias, Benedetta, Sorbi, Sandro, Nielsen, Jorgen E., Hjermind, Lynne E., Novelli, Valeria, Puca, Annibale A., Pastor, Pau, Alvarez, Ignacio, Diez-Fairen, Monica, Aguilar, Miquel, Perneczky, Robert, Diehl-Schimd, Janine, Rossi, Mina, Ruiz, Agustin, Boada, Mercè, Hernández, Isabel, Moreno-Grau, Sonia, Schlachetzki, Johannes C., Aarsland, Dag, Albert, Marilyn S., Attems, Johannes, Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Besser, Lilah M., Bigio, Eileen H., Black, Sandra E., Boeve, Bradley F., Bohannan, Ryan C., Brett, Francesca, Brunetti, Maura, Caraway, Chad A., Palma, Jose-Alberto, Calvo, Andrea, Canosa, Antonio, Dickson, Dennis, Duyckaerts, Charles, Faber, Kelley, Ferman, Tanis, Flanagan, Margaret E., Floris, Gianluca, Foroud, Tatiana M., Fortea, Juan, Gan-Or, Ziv, Gentleman, Steve, Ghetti, Bernardino, Gibbs, Jesse Raphael, Goate, Alison, Goldstein, David, González-Aramburu, Isabel, Graff-Radford, Neill R., Hodges, Angela K., Hu, Heng-Chen, Hupalo, Daniel, Infante, Jon, Iranzo, Alex, Kaiser, Scott M., Kaufmann, Horacio, Keith, Julia, Kim, Ronald C., Klein, Gregory, Krüger, Rejko, Kukull, Walter, Kuzma, Amanda, Lage, Carmen, Lesage, Suzanne, Leverenz, James B., Logroscino, Giancarlo, Lopez, Grisel, Love, Seth, Mao, Qinwen, Marti, Maria Jose, Martinez-McGrath, Elisa, Masellis, Mario, Masliah, Eliezer, May, Patrick, McKeith, Ian, Mesulam, Marek-Marsel, Monuki, Edwin S., Newell, Kathy L., Norcliffe-Kaufmann, Lucy, Palmer, Laura, Perkins, Matthew, Pletnikova, Olga, Molina-Porcel, Laura, Reynolds, Regina H., Rodríguez-Rodríguez, Eloy, Rohrer, Jonathan D., Sanchez-Juan, Pascual, Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram, Sidransky, Ellen, Tayebi, Nahid, Thomas, Alan J., Tilley, Bension S., Walton, Ronald L., Woltjer, Randy, Wszolek, Zbigniew K., Xiromerisiou, Georgia, Zecca, Chiara, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Shneider, Neil A., Fraenkel, Ernest, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos.A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Harms, Matt, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Amar, Khaled, Archibald, Neil, Bandmann, Oliver, Capps, Erica, Church, Alistair, Coebergh, Jan, Costantini, Alyssa, Critchley, Peter, Ghosh, Boyd CP., Hu, Michele T.M., Kobylecki, Christopher, Leigh, P. Nigel, Mann, Carl, Massey, Luke A., Morris, Huw R., Nath, Uma, Pavese, Nicola, Paviour, Dominic, Sharma, Jagdish, Vaughan, Jenny, Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A., Stein, Thor D., Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S., Portley, Makayla K., Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, F.N.U., Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L., Johansson, Per M., Nilsson, Christer F., Rowe, James B., Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D., Singleton, Andrew B., Silani, Vincenzo, Ross, Owen A., Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M., Pickering-Brown, Stuart, Brady, Christopher B., Kowal, Neil, Hardy, John A., Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matthew B., Ferrari, Raffaele, Landers, John E., Gibbs, J. Raphael, Dalgard, Clifton L., Scholz, Sonja W., Traynor, Bryan J.

Source: In Neuron 3 February 2021 109(3):448-460

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Authors: Mok, Kin Y., Murphy, David P., Al-Sarraj, Safa, Troakes, Claire, Gentleman, Steve M., Allinson, Kieren S.J., Jaunmuktane, Zane, Holton, Janice L., Lees, Andrew J., Morris, Christopher M., Compta, Yaroslau, Gelpi, Ellen, van Swieten, John C., Rajput, Alex, Ferguson, Leslie, Cookson, Mark R., Gibbs, J. Raphael, Blauwendraat, Cornelis, Ding, Jinhui, Chia, Ruth, Traynor, Bryan J., Pantelyat, Alexander, Viollet, Coralie, Pletnikova, Olga, Troncoso, Juan C., Rosenthal, Liana S., Boxer, Adam L., Respondek, Gesine, Arzberger, Thomas, Roeber, Sigrun, Giese, Armin, Burn, David J., Pavese, Nicola, Gerhard, Alexander, Kobylecki, Christopher, Leigh, P. Nigel, Church, Alistair, T.M. Hu, Michele, Jabbari, Edwin ^*, Koga, Shunsuke, Valentino, Rebecca R, Reynolds, Regina H, Ferrari, Raffaele, Tan, Manuela M X, Rowe, James B, Dalgard, Clifton L, Scholz, Sonja W, Dickson, Dennis W, Warner, Thomas T, Revesz, Tamas, Höglinger, Günter U, Ross, Owen A, Ryten, Mina, Hardy, John, Shoai, Maryam, Morris, Huw R

Source: In The Lancet Neurology February 2021 20(2):107-116

Genomic Analysis Identifies Risk Factors in Restless Legs Syndrome.

Authors: Akçimen, Fulya¹ (AUTHOR) fulya.akcimen@nih.gov, Chia, Ruth¹ (AUTHOR), Saez‐Atienzar, Sara¹ (AUTHOR), Ruffo, Paola^1,2 (AUTHOR), Rasheed, Memoona¹ (AUTHOR), Ross, Jay P.^3,4 (AUTHOR), Liao, Calwing^5,6,7 (AUTHOR), Ray, Anindita⁸ (AUTHOR), Dion, Patrick A.^4,9 (AUTHOR), Scholz, Sonja W.^8,10 (AUTHOR), Rouleau, Guy A.^3,4,9 (AUTHOR), Traynor, Bryan J.^1,10 (AUTHOR)

Source: Annals of Neurology. Nov2024, Vol. 96 Issue 5, p994-1005. 12p.

Subject Terms: *RESTLESS legs syndrome, *GENETIC correlations, *GENOMICS, *NEUROLOGICAL disorders, *REST periods

Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts.

Authors: Siting Li, Jiang Gui, Passarelli, Michael N., Andrew, Angeline S., Sullivan, Kathleen M., Cornell, Kevin A., Traynor, Bryan J., Stark, Ali, Chia, Ruth, Kuenzler, Rebecca M., Pioro, Erik P., Bradley, Walter G., Stommel, Elijah W.

Source: Neurology: Genetics; Oct2024, Vol. 10 Issue 5, p1-8, 8p

Intermediate HTT CAG repeats worsen disease severity in amyotrophic lateral sclerosis.

Authors: Grassano, Maurizio, Canosa, Antonio, D'Alfonso, Sandra, Corrado, Lucia, Brodini, Giorgia, Koumantakis, Emanuele, Cugnasco, Paolo, Manera, Umberto, Vasta, Rosario, Palumbo, Francesca, Mazzini, Letizia, Gallone, Salvatore, Moglia, Cristina, Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Dalgard, Clifton, Gibbs, Raphael J., Scholz, Sonja, Calvo, Andrea

Source: Journal of Neurology, Neurosurgery & Psychiatry; Jan2025, Vol. 96 Issue 1, p100-102, 3p

Subject Terms: PROPORTIONAL hazards models, NATURAL history, AMYOTROPHIC lateral sclerosis, STUDENT health services, HUNTINGTON disease, PEER review of students

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

Authors: Chia, Ruth, Chiò, Adriano, Traynor, Bryan J

Source: In The Lancet Neurology January 2018 17(1):94-102

Investigation of the genetic aetiology of Lewy body diseases with and without dementia.

Authors: Wu, Lesley Yue, Real, Raquel, Martinez-Carrasco, Alejandro, Chia, Ruth, Lawton, Michael A, Shoai, Maryam, Bresner, Catherine, Blauwendraat, Cornelis, Singleton, Andrew B, Ryten, Mina, Consortium, International Lewy Body Dementia Genomics, Scholz, Sonja W, Traynor, Bryan J, Williams, Nigel M, Hu, Michele T M, Ben-Shlomo, Yoav, Grosset, Donald G, Hardy, John, Morris, Huw R

Source: Brain Communications; 2024, Vol. 6 Issue 4, p1-16, 16p

Arsenite Stress Down-regulates Phosphorylation and 14-3-3 Binding of Leucine-rich Repeat Kinase 2 (LRRK2), Promoting Self-association and Cellular Redistribution

Authors: Mamais, Adamantios, Chia, Ruth, Beilina, Alexandra, Hauser, David N. ^**, Hall, Christine, Lewis, Patrick A., Cookson, Mark R., Bandopadhyay, Rina

Source: In Journal of Biological Chemistry 1 August 2014 289(31):21386-21400

Cochlear Implantation Among Deaf Children With Additional Disabilities: Parental Perceptions of Benefits, Challenges, and Service Provision

Authors: Zaidman-Zait, Anat, Curle, Deirdre, Jamieson, Janet R., Chia, Ruth, Kozak, Frederick K.

Source: Journal of Deaf Studies and Deaf Education, 2015 Jan 01. 20(1), 41-50.

Access URL: http://www.jstor.org/stable/26172426

A Direct Interaction between Leucine-rich Repeat Kinase 2 and Specific β-Tubulin Isoforms Regulates Tubulin Acetylation

Authors: Law, Bernard M.H., Spain, Victoria A., Leinster, Veronica H.L., Chia, Ruth, Beilina, Alexandra, Cho, Hyun J., Taymans, Jean-Marc, Urban, Mary K., Sancho, Rosa M., Ramírez, Marian Blanca, Biskup, Saskia ^**, Baekelandt, Veerle, Cai, Huaibin, Cookson, Mark R., Berwick, Daniel C., Harvey, Kirsten

Source: In Journal of Biological Chemistry 10 January 2014 289(2):895-908

Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.

Authors: Bayram, Ece, Reho, Paolo, Litvan, Irene, Ding, Jinhui, Gibbs, J. Raphael, Dalgard, Clifton L., Traynor, Bryan J., Scholz, Sonja W., Chia, Ruth

Source: NPJ Parkinson's Disease; 2/20/2024, Vol. 10 Issue 1, p1-9, 9p

Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies.

Authors: Reho, Paolo, Saez-Atienzar, Sara, Ruffo, Paola, Solaiman, Sultana, Shah, Zalak, Chia, Ruth, Kaivola, Karri, Traynor, Bryan J., Tilley, Bension S., Gentleman, Steve M., Hodges, Angela K., Aarsland, Dag, Monuki, Edwin S., Newell, Kathy L., Woltjer, Randy, Albert, Marilyn S., Dawson, Ted M., Rosenthal, Liana S., Troncoso, Juan C., Pletnikova, Olga

Source: Communications Biology; 1/5/2024, Vol. 7 Issue 1, p1-10, 10p

Subject Terms: LEWY body dementia, METHYLATION, OLDER people, DNA methylation, NEUROPLASTICITY