Results
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81.
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Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. [electronic resource] by
- Couthouis, Julien
- Raphael, Alya R
- Siskind, Carly
- Findlay, Andrew R
- Buenrostro, Jason D
- Greenleaf, William J
- Vogel, Hannes
- Day, John W
- Flanigan, Kevin M
- Gitler, Aaron D
Producer: 20141210
In:
Neuromuscular disorders : NMD vol. 24
Availability: No items available.
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82.
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LRRK2 modifies α-syn pathology and spread in mouse models and human neurons. [electronic resource] by
- Bieri, Gregor
- Brahic, Michel
- Bousset, Luc
- Couthouis, Julien
- Kramer, Nicholas J
- Ma, Rosanna
- Nakayama, Lisa
- Monbureau, Marie
- Defensor, Erwin
- Schüle, Birgitt
- Shamloo, Mehrdad
- Melki, Ronald
- Gitler, Aaron D
Producer: 20200622
In:
Acta neuropathologica vol. 137
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83.
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Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models. [electronic resource] by
- Kim, Hyung-Jun
- Raphael, Alya R
- LaDow, Eva S
- McGurk, Leeanne
- Weber, Ross A
- Trojanowski, John Q
- Lee, Virginia M-Y
- Finkbeiner, Steven
- Gitler, Aaron D
- Bonini, Nancy M
Producer: 20140325
In:
Nature genetics vol. 46
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84.
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The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells. [electronic resource] by
- Fares, Mohamed-Bilal
- Ait-Bouziad, Nadine
- Dikiy, Igor
- Mbefo, Martial K
- Jovičić, Ana
- Kiely, Aoife
- Holton, Janice L
- Lee, Seung-Jae
- Gitler, Aaron D
- Eliezer, David
- Lashuel, Hilal A
Producer: 20150330
In:
Human molecular genetics vol. 23
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85.
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Spontaneous driving forces give rise to protein-RNA condensates with coexisting phases and complex material properties. [electronic resource] by
- Boeynaems, Steven
- Holehouse, Alex S
- Weinhardt, Venera
- Kovacs, Denes
- Van Lindt, Joris
- Larabell, Carolyn
- Van Den Bosch, Ludo
- Das, Rhiju
- Tompa, Peter S
- Pappu, Rohit V
- Gitler, Aaron D
Producer: 20200323
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 116
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86.
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Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity. [electronic resource] by
- Gitler, Aaron D
- Chesi, Alessandra
- Geddie, Melissa L
- Strathearn, Katherine E
- Hamamichi, Shusei
- Hill, Kathryn J
- Caldwell, Kim A
- Caldwell, Guy A
- Cooper, Antony A
- Rochet, Jean-Christophe
- Lindquist, Susan
Producer: 20090402
In:
Nature genetics vol. 41
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87.
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Genetic Spectrum and Variability in Chinese Patients with Amyotrophic Lateral Sclerosis. [electronic resource] by
- Liu, Zhi-Jun
- Lin, Hui-Xia
- Wei, Qiao
- Zhang, Qi-Jie
- Chen, Cong-Xin
- Tao, Qing-Qing
- Liu, Gong-Lu
- Ni, Wang
- Gitler, Aaron D
- Li, Hong-Fu
- Wu, Zhi-Ying
Publication details: Aging and disease Dec 2019
In:
Aging and disease vol. 10
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88.
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Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. [electronic resource] by
- Armakola, Maria
- Higgins, Matthew J
- Figley, Matthew D
- Barmada, Sami J
- Scarborough, Emily A
- Diaz, Zamia
- Fang, Xiaodong
- Shorter, James
- Krogan, Nevan J
- Finkbeiner, Steven
- Farese, Robert V
- Gitler, Aaron D
Producer: 20130213
In:
Nature genetics vol. 44
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89.
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The Parkinson's disease protein alpha-synuclein disrupts cellular Rab homeostasis. [electronic resource] by
- Gitler, Aaron D
- Bevis, Brooke J
- Shorter, James
- Strathearn, Katherine E
- Hamamichi, Shusei
- Su, Linhui Julie
- Caldwell, Kim A
- Caldwell, Guy A
- Rochet, Jean-Christophe
- McCaffery, J Michael
- Barlowe, Charles
- Lindquist, Susan
Producer: 20080205
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 105
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90.
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ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency. [electronic resource] by
- Joly, Philippe
- Vignaud, Hélène
- Di Martino, Julie
- Ruiz, Mathias
- Garin, Roman
- Restier, Lioara
- Belmalih, Abdelouahed
- Marchal, Christelle
- Cullin, Christophe
- Arveiler, Benoit
- Fergelot, Patricia
- Gitler, Aaron D
- Lachaux, Alain
- Couthouis, Julien
- Bouchecareilh, Marion
Producer: 20170913
In:
PloS one vol. 12
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91.
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The modulation of Amyotrophic Lateral Sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. [electronic resource] by
- Gispert, Suzana
- Kurz, Alexander
- Waibel, Stefan
- Bauer, Peter
- Liepelt, Inga
- Geisen, Christof
- Gitler, Aaron D
- Becker, Tim
- Weber, Markus
- Berg, Daniela
- Andersen, Peter M
- Krüger, Rejko
- Riess, Olaf
- Ludolph, Albert C
- Auburger, Georg
Producer: 20120723
In:
Neurobiology of disease vol. 45
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92.
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Bridging high-throughput genetic and transcriptional data reveals cellular responses to alpha-synuclein toxicity. [electronic resource] by
- Yeger-Lotem, Esti
- Riva, Laura
- Su, Linhui Julie
- Gitler, Aaron D
- Cashikar, Anil G
- King, Oliver D
- Auluck, Pavan K
- Geddie, Melissa L
- Valastyan, Julie S
- Karger, David R
- Lindquist, Susan
- Fraenkel, Ernest
Producer: 20090402
In:
Nature genetics vol. 41
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93.
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Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. [electronic resource] by
- Lee, Teresa
- Li, Yun R
- Ingre, Caroline
- Weber, Markus
- Grehl, Torsten
- Gredal, Ole
- de Carvalho, Mamede
- Meyer, Thomas
- Tysnes, Ole-Björn
- Auburger, Georg
- Gispert, Suzana
- Bonini, Nancy M
- Andersen, Peter M
- Gitler, Aaron D
Producer: 20110815
In:
Human molecular genetics vol. 20
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94.
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PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. [electronic resource] by
- Yu, Zhenming
- Zhu, Yongqing
- Chen-Plotkin, Alice S
- Clay-Falcone, Dana
- McCluskey, Leo
- Elman, Lauren
- Kalb, Robert G
- Trojanowski, John Q
- Lee, Virginia M-Y
- Van Deerlin, Vivianna M
- Gitler, Aaron D
- Bonini, Nancy M
Producer: 20110726
In:
PloS one vol. 6
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95.
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Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice. [electronic resource] by
- Becker, Lindsay A
- Huang, Brenda
- Bieri, Gregor
- Ma, Rosanna
- Knowles, David A
- Jafar-Nejad, Paymaan
- Messing, James
- Kim, Hong Joo
- Soriano, Armand
- Auburger, Georg
- Pulst, Stefan M
- Taylor, J Paul
- Rigo, Frank
- Gitler, Aaron D
Producer: 20170822
In:
Nature vol. 544
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96.
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Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on α-synuclein. [electronic resource] by
- Dhungel, Nripesh
- Eleuteri, Simona
- Li, Ling-Bo
- Kramer, Nicholas J
- Chartron, Justin W
- Spencer, Brian
- Kosberg, Kori
- Fields, Jerel Adam
- Stafa, Klodjan
- Adame, Anthony
- Lashuel, Hilal
- Frydman, Judith
- Shen, Kang
- Masliah, Eliezer
- Gitler, Aaron D
Producer: 20150501
In:
Neuron vol. 85
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97.
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Stress Granule Assembly Disrupts Nucleocytoplasmic Transport. [electronic resource] by
- Zhang, Ke
- Daigle, J Gavin
- Cunningham, Kathleen M
- Coyne, Alyssa N
- Ruan, Kai
- Grima, Jonathan C
- Bowen, Kelly E
- Wadhwa, Harsh
- Yang, Peiguo
- Rigo, Frank
- Taylor, J Paul
- Gitler, Aaron D
- Rothstein, Jeffrey D
- Lloyd, Thomas E
Producer: 20190220
In:
Cell vol. 173
Availability: No items available.
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98.
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Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD. [electronic resource] by
- Goodman, Lindsey D
- Prudencio, Mercedes
- Kramer, Nicholas J
- Martinez-Ramirez, Luis F
- Srinivasan, Ananth R
- Lan, Matthews
- Parisi, Michael J
- Zhu, Yongqing
- Chew, Jeannie
- Cook, Casey N
- Berson, Amit
- Gitler, Aaron D
- Petrucelli, Leonard
- Bonini, Nancy M
Producer: 20190705
In:
Nature neuroscience vol. 22
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99.
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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. [electronic resource] by
- Jovičić, Ana
- Mertens, Jerome
- Boeynaems, Steven
- Bogaert, Elke
- Chai, Noori
- Yamada, Shizuka B
- Paul, Joseph W
- Sun, Shuying
- Herdy, Joseph R
- Bieri, Gregor
- Kramer, Nicholas J
- Gage, Fred H
- Van Den Bosch, Ludo
- Robberecht, Wim
- Gitler, Aaron D
Producer: 20151116
In:
Nature neuroscience vol. 18
Availability: No items available.
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100.
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Glycolytic Enzymes Coalesce in G Bodies under Hypoxic Stress. [electronic resource] by
- Jin, Meiyan
- Fuller, Gregory G
- Han, Ting
- Yao, Yao
- Alessi, Amelia F
- Freeberg, Mallory A
- Roach, Nathan P
- Moresco, James J
- Karnovsky, Alla
- Baba, Misuzu
- Yates, John R
- Gitler, Aaron D
- Inoki, Ken
- Klionsky, Daniel J
- Kim, John K
Producer: 20180507
In:
Cell reports vol. 20
Availability: No items available.
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