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  1. 1
    How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

    How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia by Marka van Blitterswijk, Mariely DeJesus‐Hernandez, Rosa Rademakers

    Published 2012
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  2. 2
    Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65

    Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65 by Xin Sun, Pan P. Li, Shanshan Zhu, Rachael Cohen, Leonard O. Marque, Christopher A. Ross, Stefan M. Pulst, Ho Yin Edwin Chan, Russell L. Margolis, Dobrila D. Rudnicki

    Published 2015
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  3. 3
    Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease

    Suppression of Somatic Expansion Delays the Onset of Pathophysiology in a Mouse Model of Huntington’s Disease by Helen Budworth, Faye R. Harris, Paul D. Williams, Do Yup Lee, Amy Holt, Jens Pahnke, Bartosz Szczesny, Karina Acevedo‐Torres, Sylvette Ayala‐Peña, Cynthia T. McMurray

    Published 2015
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  4. 4
    Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

    Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS by Ana Jovičić, Jérôme Mertens, Steven Boeynaems, Elke Bogaert, Noori Chai, Shizuka Yamada, Joseph W. Paul, Shuying Sun, Joseph R. Herdy, Gregor Bieri, Nicholas J. Kramer, Fred H. Gage, Ludo Van Den Bosch, Wim Robberecht, Aaron D. Gitler

    Published 2015
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  5. 5
    Identification and Characterization of Modified Antisense Oligonucleotides Targeting <i>DMPK</i> in Mice and Nonhuman Primates for the Treatment of Myotonic Dystrophy Type 1

    Identification and Characterization of Modified Antisense Oligonucleotides Targeting <i>DMPK</i> in Mice and Nonhuman Primates for the Treatment of Myotonic Dystrophy Type 1 by Sanjay K. Pandey, Thurman M. Wheeler, Samantha L. Justice, Aneeza Kim, Husam S. Younis, Danielle Gattis, Dominic Jauvin, Jack Puymirat, Eric E. Swayze, Susan M. Freier, C. Frank Bennett, Charles A. Thornton, A. Robert MacLeod

    Published 2015
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  6. 6
    A Brief History of Triplet Repeat Diseases

    A Brief History of Triplet Repeat Diseases by Helen Budworth, Cynthia T. McMurray

    Published 2013
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  7. 7
    Cortical Function in Asymptomatic Carriers and Patients With<i>C9orf72</i>Amyotrophic Lateral Sclerosis

    Cortical Function in Asymptomatic Carriers and Patients With<i>C9orf72</i>Amyotrophic Lateral Sclerosis by Nimeshan Geevasinga, Parvathi Menon, Garth A. Nicholson, Karl Ng, James Howells, Jillian J. Kril, Con Yiannikas, Matthew C. Kiernan, Steve Vucic

    Published 2015
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  8. 8
    GGA·TCC-interrupted Triplets in Long GAA·TTC Repeats Inhibit the Formation of Triplex and Sticky DNA Structures, Alleviate Transcription Inhibition, and Reduce Genetic Instabilities

    GGA·TCC-interrupted Triplets in Long GAA·TTC Repeats Inhibit the Formation of Triplex and Sticky DNA Structures, Alleviate Transcription Inhibition, and Reduce Genetic Instabilitie... by Naoaki Sakamoto, Jacquelynn E. Larson, Ravi R. Iyer, Laura Montermini, Massimo Pandolfo, Robert D. Wells

    Published 2001
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  9. 9
    Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

    Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes by Virginia B. Mattis, Soshana Svendsen, Allison D. Ebert, Clive N. Svendsen, Alvin R. King, Malcolm Casale, Sara T. Winokur, Gayani Batugedara, Marquis P. Vawter, Peter J. Donovan, Leslie F. Lock, Leslie M. Thompson, Yu Zhu, Elisa Fossale, Ranjit Singh Atwal, Tammy Gillis, Jayalakshmi Srinidhi Mysore, Jianhong Li, Ihnsik Seong, Yiping Shen, Xiaoli Chen, Vanessa C. Wheeler, Marcy E. MacDonald, James F. Gusella, Sergey Akimov, Nicolas Arbez, Tarja Juopperi, Tamara Ratovitski, Jason Chiang, Woon Roung Kim, Eka Chighladze, Erin E. Watkin, Chun Zhong, Georgia Makri, Robert N. Cole, Russell L. Margolis, Hongjun Song, Guo‐li Ming, Christopher A. Ross, Julia Kaye, Aaron Daub, Punita Sharma, Amanda R. Mason, Steven Finkbeiner, Junying Yu, J. Allan Thomson, David J. Rushton, Stephen P. Brazier, Alysia Battersby, Amanda Redfern, Hsui Er Tseng, Alexander W. Harrison, Paul J. Kemp, Nicholas D. Allen, Marco Onorati, Valentina Castiglioni, Elena Cattaneo, Jamshid Arjomand

    Published 2012
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  10. 10
    Machado–Joseph disease/spinocerebellar ataxia type 3

    Machado–Joseph disease/spinocerebellar ataxia type 3 by Henry L. Paulson

    Published 2011
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  11. 11
    <i>C9ORF72</i> repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

    <i>C9ORF72</i> repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits by Jeannie Chew, Tania F. Gendron, Mercedes Prudencio, Hiroki Sasaguri, Yong‐Jie Zhang, Monica Castanedes‐Casey, Chris W. Lee, Karen Jansen‐West, Aishe Kurti, Melissa E. Murray, Kevin F. Bieniek, Peter Bauer, Ena C. Whitelaw, Linda Rousseau, Jeannette N. Stankowski, Caroline Stetler, Lillian M. Daughrity, Emilie A. Perkerson, Pamela Desaro, Amelia Johnston, Karen Overstreet, Dieter Edbauer, Rosa Rademakers, Khrista Boylan, Dennis W. Dickson, John Denis Fryer, Leonard Petrucelli

    Published 2015
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  12. 12
    Ubiquitin–proteasome system involvement in Huntington’s disease

    Ubiquitin–proteasome system involvement in Huntington’s disease by Zaira Ortega, José J. Lucas

    Published 2014
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  13. 13
    Jump from Pre-mutation to Pathologic Expansion in C9orf72

    Jump from Pre-mutation to Pathologic Expansion in C9orf72 by Zhengrui Xi, Marka van Blitterswijk, Ming Zhang, Philip McGoldrick, Jesse R. McLean, Yana Yunusova, Erin Knock, Danielle Moreno, Christine Sato, Paul M. McKeever, Raphaël Schneider, Julia Keith, Nicolae Petrescu, Paul E. Fraser, Maria Carmela Tartaglia, Matthew Baker, Neill R. Graff‐Radford, Khrista Boylan, Dennis W. Dickson, Ian R. Mackenzie, Rosa Rademakers, Janice Robertson, Lorne Zinman, Ekaterina Rogaeva

    Published 2015
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  14. 14
    Personalized gene silencing therapeutics for Huntington disease

    Personalized gene silencing therapeutics for Huntington disease by Chris Kay, Niels H. Skotte, Amber L. Southwell, Michael R. Hayden

    Published 2014
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  15. 15
    Neuropathology and <scp>C</scp>ellular <scp>P</scp>athogenesis of <scp>S</scp>pinocerebellar <scp>A</scp>taxia <scp>T</scp>ype 12

    Neuropathology and <scp>C</scp>ellular <scp>P</scp>athogenesis of <scp>S</scp>pinocerebellar <scp>A</scp>taxia <scp>T</scp>ype 12 by Elizabeth O’Hearn, Hyon S. Hwang, Susan E. Holmes, Dobrila D. Rudnicki, Daniel W. Chung, Ana I. Seixas, Rachael Cohen, Christopher A. Ross, John Q. Trojanowski, Olga Pletniková, Juan C. Troncoso, Russell L. Margolis

    Published 2015
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  16. 16
    Muscle wasting in myotonic dystrophies: a model of premature aging

    Muscle wasting in myotonic dystrophies: a model of premature aging by Alba Judith Mateos-Aierdi, María Goicoechea, Ana Aiastui, Roberto Fernández‐Torrón, Mikel García-Puga, Ander Matheu, Adolfo López de Munaín

    Published 2015
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  17. 17
    CAG Repeat Expansion in the Androgen Receptor Gene Is Not Associated With Male Infertility in Indian Populations

    CAG Repeat Expansion in the Androgen Receptor Gene Is Not Associated With Male Infertility in Indian Populations by Kumarasamy Thangaraj, Manjunath B. Joshi, Alla G. Reddy, Nalini Gupta, Baidyanath Chakravarty, Lalji Singh

    Published 2002
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  18. 18
    Huntington’s disease cerebrospinal fluid seeds aggregation of mutant huntingtin

    Huntington’s disease cerebrospinal fluid seeds aggregation of mutant huntingtin by Zhiqun Tan, Wei Dai, Theo G.M. van Erp, Julia Overman, Angelo Demuro, Michelle A. Digman, Asa Hatami, Ricardo Albay, Emily M. Sontag, Katya T Potkin, Shuo‐Chien Ling, Fabìo Macciardi, W.E. Bunney, Jeffrey D. Long, Jane S. Paulsen, John M. Ringman, Ian Parker, Charles Glabe, Leslie M. Thompson, Wah Chiu, Steven G. Potkin

    Published 2015
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  19. 19
    Larger Trinucleotide Repeat Size in the Androgen Receptor Gene of Infertile Men With Extremely Severe Oligozoospermia

    Larger Trinucleotide Repeat Size in the Androgen Receptor Gene of Infertile Men With Extremely Severe Oligozoospermia by Pasquale Patrizio, Debra G. B. Leonard, Ke‐Lian Chen, S. Hernández-Ayup, Alan Trounson

    Published 2001
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  20. 20
    Corticostriatal synaptic function in mouse models of Huntington's disease: early effects of huntingtin repeat length and protein load

    Corticostriatal synaptic function in mouse models of Huntington's disease: early effects of huntingtin repeat length and protein load by Austen J. Milnerwood, Lynn A. Raymond

    Published 2007
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