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Yang, Chunxing, Wang, Hongyan, Qiao, Tao, Yang, Bin, Aliaga, Leonardo, Qiu, Linghua, Tan, Weijia, Salameh, Johnny, McKenna-Yasek, Diane M., Smith, Thomas, Peng, Lingtao, Moore, Melissa J., Brown, Robert H., Cai, Huaibin, Xu, Zuoshang
Published in Proceedings of the National Academy of Sciences - PNAS (25.03.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (25.03.2014)
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Poly(GR) and poly(GA) in cerebrospinal fluid as potential biomarkers for C9ORF72-ALS/FTD
Krishnan, Gopinath, Raitcheva, Denitza, Bartlett, Daniel, Prudencio, Mercedes, McKenna-Yasek, Diane M., Douthwright, Catherine, Oskarsson, Björn E., Ladha, Shafeeq, King, Oliver D., Barmada, Sami J., Miller, Timothy M., Bowser, Robert, Watts, Jonathan K., Petrucelli, Leonard, Brown, Robert H., Kankel, Mark W., Gao, Fen-Biao
Published in Nature communications (19.05.2022)
Published in Nature communications (19.05.2022)
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Paraoxonase gene mutations in amyotrophic lateral sclerosis
Ticozzi, Nicola, LeClerc, Ashley Lyn, Keagle, Pamela J., Glass, Jonathan D., Wills, Anne-Marie, van Blitterswijk, Marka, Bosco, Daryl A., Rodriguez-Leyva, Ildefonso, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, McKenna-Yasek, Diane, Sapp, Peter C., Silani, Vincenzo, Furlong, Clement E., Brown Jr, Robert H., Landers, John E.
Published in Annals of neurology (01.07.2010)
Published in Annals of neurology (01.07.2010)
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Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation
Dominov, Janice A., Uyan, Özgün, McKenna‐Yasek, Diane, Nallamilli, Babi Ramesh Reddy, Kergourlay, Virginie, Bartoli, Marc, Levy, Nicolas, Hudson, Judith, Evangelista, Teresinha, Lochmuller, Hanns, Krahn, Martin, Rufibach, Laura, Hegde, Madhuri, Brown, Robert H.
Published in Annals of clinical and translational neurology (01.04.2019)
Published in Annals of clinical and translational neurology (01.04.2019)
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SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS
Mueller, Christian, Berry, James D, McKenna-Yasek, Diane M, Gernoux, Gwladys, Owegi, Margaret A, Pothier, Lindsay M, Douthwright, Catherine L, Gelevski, Dario, Luppino, Sarah D, Blackwood, Meghan, Wightman, Nicholas S, Oakley, Derek H, Frosch, Matthew P, Flotte, Terrence R, Cudkowicz, Merit E, Brown, Robert H
Published in The New England journal of medicine (09.07.2020)
Published in The New England journal of medicine (09.07.2020)
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Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide
Tran, Hélène, Moazami, Michael P., Yang, Huiya, McKenna-Yasek, Diane, Douthwright, Catherine L., Pinto, Courtney, Metterville, Jake, Shin, Minwook, Sanil, Nitasha, Dooley, Craig, Puri, Ajit, Weiss, Alexandra, Wightman, Nicholas, Gray-Edwards, Heather, Marosfoi, Miklos, King, Robert M., Kenderdine, Thomas, Fabris, Daniele, Bowser, Robert, Watts, Jonathan K., Brown, Robert H.
Published in Nature medicine (01.01.2022)
Published in Nature medicine (01.01.2022)
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A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
Dominov, Janice A., Uyan, Özgün, Sapp, Peter C., McKenna‐Yasek, Diane, Nallamilli, Babi R. R., Hegde, Madhuri, Brown, Robert H.
Published in Annals of clinical and translational neurology (01.09.2014)
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Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
Bosco, Daryl A, Brown, Robert H, Morfini, Gerardo, Karabacak, N Murat, Song, Yuyu, Gros-Louis, Francois, Pasinelli, Piera, Goolsby, Holly, Fontaine, Benjamin A, Lemay, Nathan, McKenna-Yasek, Diane, Frosch, Matthew P, Agar, Jeffrey N, Julien, Jean-Pierre, Brady, Scott T
Published in Nature neuroscience (01.11.2010)
Published in Nature neuroscience (01.11.2010)
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Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS
Chow, Clement Y., Landers, John E., Bergren, Sarah K., Sapp, Peter C., Grant, Adrienne E., Jones, Julie M., Everett, Lesley, Lenk, Guy M., McKenna-Yasek, Diane M., Weisman, Lois S., Figlewicz, Denise, Brown, Robert H., Meisler, Miriam H.
Published in American journal of human genetics (09.01.2009)
Published in American journal of human genetics (09.01.2009)
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Reply to comment on: A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides
Dominov, Janice A., Uyan, Özgün, Sapp, Peter C., McKenna‐Yasek, Diane, Nallamilli, Babi Ramesh Reddy, Hegde, Madhuri, Brown, Robert H.
Published in Annals of clinical and translational neurology (01.07.2015)
Published in Annals of clinical and translational neurology (01.07.2015)
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Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
Landers, John E, Melki, Judith, Meininger, Vincent, Glass, Jonathan D, van den Berg, Leonard H, van Es, Michael A, Sapp, Peter C, van Vught, Paul W.J, McKenna-Yasek, Diane M, Blauw, Hylke M, Cho, Ting-Jan, Polak, Meraida, Shi, Lijia, Wills, Anne-Marie, Broom, Wendy J, Ticozzi, Nicola, Silani, Vincenzo, Ozoguz, Aslihan, Rodriguez-Leyva, Ildefonso, Veldink, Jan H, Ivinson, Adrian J, Saris, Christiaan G.J, Hosler, Betsy A, Barnes-Nessa, Alayna, Couture, Nicole, Wokke, John H.J, Kwiatkowski, Thomas J. Jr, Ophoff, Roel A, Cronin, Simon, Hardiman, Orla, Diekstra, Frank P, Leigh, P. Nigel, Shaw, Christopher E, Simpson, Claire L, Hansen, Valerie K, Powell, John F, Corcia, Philippe, Salachas, François, Heath, Simon, Galan, Pilar, Georges, Franck, Horvitz, H. Robert, Lathrop, Mark, Purcell, Shaun, Al-Chalabi, Ammar, Brown, Robert H. Jr
Published in Proceedings of the National Academy of Sciences - PNAS (02.06.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (02.06.2009)
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Mutational analysis of TARDBP in neurodegenerative diseases
Ticozzi, Nicola, LeClerc, Ashley Lyn, van Blitterswijk, Marka, Keagle, Pamela, McKenna-Yasek, Diane M, Sapp, Peter C, Silani, Vincenzo, Wills, Anne-Marie, Brown, Robert H, Landers, John E
Published in Neurobiology of aging (01.11.2011)
Published in Neurobiology of aging (01.11.2011)
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Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing
Jones, Takako I, Yan, Chi, Sapp, Peter C, McKenna-Yasek, Diane, Kang, Peter B, Quinn, Colin, Salameh, Johnny S, King, Oliver D, Jones, Peter L
Published in Clinical epigenetics (29.10.2014)
Published in Clinical epigenetics (29.10.2014)
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Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS
González-Pérez, Paloma, Lu, Yubing, Chian, Ru-Ju, Sapp, Peter C, Tanzi, Rudolph E, Bertram, Lars, McKenna-Yasek, Diane, Gao, Fen-Biao, Brown, Robert H
Published in Neurobiology of disease (01.12.2012)
Published in Neurobiology of disease (01.12.2012)
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Identification of Two Novel Loci for Dominantly Inherited Familial Amyotrophic Lateral Sclerosis
Sapp, Peter C., Hosler, Betsy A., McKenna-Yasek, Diane, Chin, Wendy, Gann, Amity, Genise, Hilary, Gorenstein, Julie, Huang, Michael, Sailer, Wen, Scheffler, Meg, Valesky, Marianne, Haines, Jonathan L., Pericak-Vance, Margaret, Siddique, Teepu, Horvitz, H. Robert, Brown, Robert H.
Published in American journal of human genetics (01.08.2003)
Published in American journal of human genetics (01.08.2003)
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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
Brown, Robert H, Liu, Jing, Aoki, Masashi, Illa, Isabel, Wu, Chenyan, Fardeau, Michel, Angelini, Corrado, Serrano, Carmen, Urtizberea, J. Andoni, Hentati, Faycal, Hamida, Mongi Ben, Bohlega, Saeed, Culper, Edward J, Amato, Anthony A, Bossie, Karen, Oeltjen, Joshua, Bejaoui, Khemissa, McKenna-Yasek, Diane, Hosler, Betsy A, Schurr, Erwin, Arahata, Kiichi, de Jong, Pieter J
Published in Nature genetics (01.09.1998)
Published in Nature genetics (01.09.1998)
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Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds
Brousseau, M.E, Schaefer, E.J, Dupuis, J, Eustace, B, Van Eerdewegh, P, Goldkamp, A.L, Thurston, L.M, FitzGerlad, M.G, Yasek-McKenna, D, O'Neill, G
Published in Journal of lipid research (01.03.2000)
Published in Journal of lipid research (01.03.2000)
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Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1
Fridman, Vera, Suriyanarayanan, Saranya, Novak, Peter, David, William, Macklin, Eric A, McKenna-Yasek, Diane, Walsh, Kailey, Aziz-Bose, Razina, Oaklander, Anne Louise, Brown, Robert, Hornemann, Thorsten, Eichler, Florian
Published in Neurology (22.01.2019)
Published in Neurology (22.01.2019)
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NurOwn, phase 2, randomized, clinical trial in patients with ALS: Safety, clinical, and biomarker results
Berry, James D, Cudkowicz, Merit E, Windebank, Anthony J, Staff, Nathan P, Owegi, Margaret, Nicholson, Katherine, McKenna-Yasek, Diane, Levy, Yossef S, Abramov, Natalie, Kaspi, Haggai, Mehra, Munish, Aricha, Revital, Gothelf, Yael, Brown, Robert H
Published in Neurology (10.12.2019)
Published in Neurology (10.12.2019)
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