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There are 3899258 results for: content related to: R521C mutation in the FUS/TLS gene presenting as juvenile onset flail leg syndrome

  1. Genotype–phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan

    Muscle & Nerve

    Tetsuya Akiyama, Hitoshi Warita, Masaaki Kato, Ayumi Nishiyama, Rumiko Izumi, Chikako Ikeda, Masaki Kamada, Naoki Suzuki and Masashi Aoki

    Version of Record online : 23 FEB 2016, DOI: 10.1002/mus.25061

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    Adenoviral expression of TDP-43 and FUS genes and shRNAs for protein degradation pathways in rodent motoneurons in vitro and in vivo

    Neuropathology

    Volume 34, Issue 1, February 2014, Pages: 83–98, Kazuhiko Watabe, Keiko Akiyama, Emiko Kawakami, Tomohiro Ishii, Kentaro Endo, Hiroko Yanagisawa, Kazunori Sango and Masami Tsukamoto

    Version of Record online : 12 AUG 2013, DOI: 10.1111/neup.12058

  3. FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis

    Annals of Neurology

    Volume 67, Issue 6, June 2010, Pages: 739–748, Han-Xiang Deng, Hong Zhai, Eileen H. Bigio, Jianhua Yan, Faisal Fecto, Kaouther Ajroud, Manjari Mishra, Senda Ajroud-Driss, Scott Heller, Robert Sufit, Nailah Siddique, Enrico Mugnaini and Teepu Siddique

    Version of Record online : 14 APR 2010, DOI: 10.1002/ana.22051

  4. Utility of whole exome sequencing in evaluation of juvenile motor neuron disease

    Muscle & Nerve

    Volume 53, Issue 4, April 2016, Pages: 648–652, Sonika Agarwal, Lorraine Potocki, Talia R. Collier, Suzanne L. Woodbury, Adekunle M. Adesina, Jeremy Jones and Timothy E. Lotze

    Version of Record online : 22 FEB 2016, DOI: 10.1002/mus.25030

  5. Transportin 1 colocalization with Fused in Sarcoma (FUS) inclusions is not characteristic for amyotrophic lateral sclerosis-FUS confirming disrupted nuclear import of mutant FUS and distinguishing it from frontotemporal lobar degeneration with FUS inclusions

    Neuropathology and Applied Neurobiology

    Volume 39, Issue 5, August 2013, Pages: 553–561, C. Troakes, T. Hortobágyi, C. Vance, S. Al-Sarraj, B. Rogelj and C. E. Shaw

    Version of Record online : 9 JUL 2013, DOI: 10.1111/j.1365-2990.2012.01300.x

  6. RNA quality control and protein aggregates in amyotrophic lateral sclerosis: A review

    Muscle & Nerve

    Volume 47, Issue 3, March 2013, Pages: 330–338, Ashok Verma and Rup Tandan

    Version of Record online : 4 FEB 2013, DOI: 10.1002/mus.23673

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    ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

    The EMBO Journal

    Volume 29, Issue 16, August 18, 2010, Pages: 2841–2857, Dorothee Dormann, Ramona Rodde, Dieter Edbauer, Eva Bentmann, Ingeborg Fischer, Alexander Hruscha, Manuel E Than, Ian R A Mackenzie, Anja Capell, Bettina Schmid, Manuela Neumann and Christian Haass

    Version of Record online : 6 JUL 2010, DOI: 10.1038/emboj.2010.143

  8. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319

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    Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS

    The EMBO Journal

    Volume 31, Issue 22, November 14, 2012, Pages: 4258–4275, Dorothee Dormann, Tobias Madl, Chiara F Valori, Eva Bentmann, Sabina Tahirovic, Claudia Abou-Ajram, Elisabeth Kremmer, Olaf Ansorge, Ian R A Mackenzie, Manuela Neumann and Christian Haass

    Version of Record online : 11 SEP 2012, DOI: 10.1038/emboj.2012.261

  10. You have full text access to this OnlineOpen article
    Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

    The EMBO Journal

    Volume 35, Issue 10, 17 May 2016, Pages: 1077–1097, Jelena Scekic-Zahirovic, Oliver Sendscheid, Hajer El Oussini, Mélanie Jambeau, Ying Sun, Sina Mersmann, Marina Wagner, Stéphane Dieterlé, Jérome Sinniger, Sylvie Dirrig-Grosch, Kevin Drenner, Marie-Christine Birling, Jinsong Qiu, Yu Zhou, Hairi Li, Xiang-Dong Fu, Caroline Rouaux, Tatyana Shelkovnikova, Anke Witting, Albert C Ludolph, Friedemann Kiefer, Erik Storkebaum, Clotilde Lagier-Tourenne and Luc Dupuis

    Version of Record online : 8 MAR 2016, DOI: 10.15252/embj.201592559

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    An unusual presentation for SOD1-ALS: Isolated facial diplegia

    Muscle & Nerve

    Volume 48, Issue 6, December 2013, Pages: 994–995, Pietro Fratta, Michael G. Hanna, Elizabeth M.C. Fisher and Katie Sidle

    Version of Record online : 22 NOV 2013, DOI: 10.1002/mus.23958

  12. Genetic heterogeneity of amyotrophic lateral sclerosis: Implications for clinical practice and research

    Muscle & Nerve

    Volume 49, Issue 6, June 2014, Pages: 786–803, Xiaowei W. Su, James R. Broach, James R. Connor, Glenn S. Gerhard and Zachary Simmons

    Version of Record online : 8 APR 2014, DOI: 10.1002/mus.24198

  13. CANADIAN DIORITE GNEISS SY-4: PREPARATION AND CERTIFICATION BY EIGHTY-NINE INTERNATIONAL LABORATORIES

    Geostandards Newsletter

    Volume 19, Issue 2, October 1995, Pages: 101–124, W.S. BOWMAN

    Version of Record online : 31 MAY 2007, DOI: 10.1111/j.1751-908X.1995.tb00156.x

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    FUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitment

    The EMBO Journal

    Volume 31, Issue 24, December 12, 2012, Pages: 4502–4510, Mariangela Morlando, Stefano Dini Modigliani, Giulia Torrelli, Alessandro Rosa, Valerio Di Carlo, Elisa Caffarelli and Irene Bozzoni

    Version of Record online : 12 DEC 2012, DOI: 10.1038/emboj.2012.319

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    Myxoid liposarcoma FUS-DDIT3 fusion oncogene induces C/EBP β-mediated interleukin 6 expression

    International Journal of Cancer

    Volume 115, Issue 4, 1 July 2005, Pages: 556–560, Melker Göransson, Erik Elias, Anders Ståhlberg, Anita Olofsson, Carola Andersson and Pierre Åman

    Version of Record online : 1 FEB 2005, DOI: 10.1002/ijc.20893

  16. Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

    Muscle & Nerve

    Volume 42, Issue 2, August 2010, Pages: 170–176, Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, Charles Krieger, Neill Graff-Radford, Marife Fabros, Hannah Briemberg, Neil Cashman, Andrew Eisen and Ian R.A. Mackenzie

    Version of Record online : 16 APR 2010, DOI: 10.1002/mus.21665

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    Stress granules in neurodegeneration – lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma

    The FEBS Journal

    Volume 280, Issue 18, September 2013, Pages: 4348–4370, Eva Bentmann, Christian Haass and Dorothee Dormann

    Version of Record online : 9 MAY 2013, DOI: 10.1111/febs.12287

  18. A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state

    Neuropathology

    Volume 34, Issue 5, October 2014, Pages: 504–509, Yoko Mochizuki, Akihiro Kawata, Hirofumi Maruyama, Taku Homma, Kazuhiko Watabe, Hideshi Kawakami, Takashi Komori, Toshio Mizutani and Shiro Matsubara

    Version of Record online : 19 MAY 2014, DOI: 10.1111/neup.12130

  19. Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis

    European Journal of Neurology

    Volume 22, Issue 11, November 2015, Pages: 1474–1481, C. Tarlarini, C. Lunetta, L. Mosca, F. Avemaria, N. Riva, V. Mantero, E. Maestri, A. Quattrini, M. Corbo, M. G. Melazzini and S. Penco

    Version of Record online : 15 JUL 2015, DOI: 10.1111/ene.12772

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    A mechanistic study on the metastasis inducing function of FUS-CHOP fusion protein in liposarcoma

    International Journal of Cancer

    Volume 134, Issue 12, 15 June 2014, Pages: 2808–2819, Nitin Patil, Suhail Ahmed Kabeer Rasheed, Mohammed Abba, Jörg Hendrik Leupold, Matthias Schwarzbach and Heike Allgayer

    Version of Record online : 7 DEC 2013, DOI: 10.1002/ijc.28638