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There are 3946 results for: content related to: Atypical Parkinsonism in distal myopathy with rimmed vacuoles

  1. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22583

  2. Novel GNE compound heterozygous mutations in a GNE myopathy patient

    Muscle & Nerve

    Volume 48, Issue 4, October 2013, Pages: 594–598, Huaying Cai, Ichiro Yabe, Shinichi Shirai, Hiroaki Nishimura, Makoto Hirotani, Takahiro Kano, Hideki Houzen, Kazuto Yoshida and Hidenao Sasaki

    Article first published online : 30 AUG 2013, DOI: 10.1002/mus.23862

  3. Hereditary inclusion-body myopathy: Clues on pathogenesis and possible therapy

    Muscle & Nerve

    Volume 40, Issue 3, September 2009, Pages: 340–349, Aldobrando Broccolini, Teresa Gidaro, Roberta Morosetti and Massimiliano Mirabella

    Article first published online : 17 JUL 2009, DOI: 10.1002/mus.21385

  4. Hereditary inclusion-body myopathy associated with cardiomyopathy: Report of two siblings

    Muscle & Nerve

    Volume 43, Issue 1, January 2011, Pages: 133–136, Yaohui Chai, Tulio E. Bertorini and Frank A. McGrew

    Article first published online : 16 NOV 2010, DOI: 10.1002/mus.21839

  5. Function and Mutations of the GNE Gene Leading to Distal Myopathy with Rimmed Vacuoles/Hereditary Inclusion-Body Myopathy, Animal Models, and Potential Treatment

    Muscle Aging, Inclusion-Body Myositis and Myopathies

    May Christine V. Malicdan, Satoru Noguchi, Ichizo Nishino, Pages: 175–190, 2011

    Published Online : 19 DEC 2011, DOI: 10.1002/9781444398311.ch11

  6. Hereditary inclusion body myopathy: single patient response to GNE gene Lipoplex therapy

    The Journal of Gene Medicine

    Volume 12, Issue 5, May 2010, Pages: 403–412, Gregory Nemunaitis, Phillip B. Maples, Chris Jay, William A. Gahl, Marjan Huizing, Justin Poling, Alex W. Tong, Anagha P. Phadke, Beena O. Pappen, Cynthia Bedell, Nancy S. Templeton, Joseph Kuhn, Neil Senzer and John Nemunaitis

    Article first published online : 30 MAR 2010, DOI: 10.1002/jgm.1450

  7. Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 589–592, H Khademian, E Mehravar, JA Urtizberea, S Sagoo, L Sandoval, R Carbajo, B Darvish, Y Valles-Ayoub and D Darvish

    Article first published online : 21 FEB 2013, DOI: 10.1111/cge.12086

  8. You have free access to this content
    Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps

    Human Mutation

    Volume 21, Issue 1, January 2003, Page: 99, Iris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, Mira Korner, Menachem Sadeh, Tulio Bertorini, Kate Bushby, Claudio Castellan, Kevin Felice, Jerry Mendell, Luciano Merlini, Christopher Shilling, Itshak Wirguin, Zohar Argov and Stella Mitrani-Rosenbaum

    Article first published online : 20 DEC 2002, DOI: 10.1002/humu.9100

  9. Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand

    Muscle & Nerve

    Volume 34, Issue 6, December 2006, Pages: 775–778, Teerin Liewluck, Theeraphong Pho-Iam, Chanin Limwongse, Wanna Thongnoppakhun, Kanokwan Boonyapisit, Natte Raksadawan, Kumiko Murayama, Yukiko K. Hayashi, Ichizo Nishino and Tumtip Sangruchi

    Article first published online : 29 JUN 2006, DOI: 10.1002/mus.20583

  10. Hereditary inclusion body myopathy in Persian Jews: a case report from Iran

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 595–597, M. Miryounesi, P. Soltanzadeh and M.H. Modarressi

    Article first published online : 10 JUL 2013, DOI: 10.1111/cge.12220

  11. You have free access to this content
    Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

    Human Mutation

    Volume 23, Issue 6, June 2004, Page: 632, Aldobrando Broccolini, Enzo Ricci, Denise Cassandrini, Carla Gliubizzi, Claudio Bruno, Emmanuel Tonoli, Gabriella Silvestri, Mario Pescatori, Carmelo Rodolico, Stefano Sinicropi, Serenella Servidei, Federico Zara, Carlo Minetti, Pietro A. Tonali and Massimiliano Mirabella

    Article first published online : 5 MAY 2004, DOI: 10.1002/humu.9252

  12. You have free access to this content
    Purification and Properties of N-Acetylmannosamine Kinase from Salmonella typhimurium

    European Journal of Biochemistry

    Volume 8, Issue 2, March 1969, Pages: 200–206, S. Banerjee and S. Ghosh

    Article first published online : 3 MAR 2005, DOI: 10.1111/j.1432-1033.1969.tb00515.x

  13. Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of N-acetylmannosamine kinase from methicillin-resistant Staphylococcus aureus

    Acta Crystallographica Section F

    Volume 70, Issue 5, May 2014, Pages: 643–649, Rachel A. North, Simona Seizova, Anja Stampfli, Sarah A. Kessans, Hironori Suzuki, Michael D. W. Griffin, Marc Kvansakul and Renwick C. J. Dobson

    DOI: 10.1107/S2053230X14007250

  14. Characterization of the Asian myopathy patients with VCP mutations

    European Journal of Neurology

    Volume 19, Issue 3, March 2012, Pages: 501–509, Z. Shi, Y. K. Hayashi, S. Mitsuhashi, K. Goto, D. Kaneda, Y.-C. Choi, C. Toyoda, S. Hieda, T. Kamiyama, H. Sato, M. Wada, S. Noguchi, I. Nonaka and I. Nishino

    Article first published online : 31 OCT 2011, DOI: 10.1111/j.1468-1331.2011.03575.x

  15. A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees

    Annals of Neurology

    Volume 52, Issue 4, October 2002, Pages: 516–519, Aki Arai, Keiko Tanaka, Takeshi Ikeuchi, Shuichi Igarashi, Hisashi Kobayashi, Tomoya Asaka, Hidetoshi Date, Masaaki Saito, Hajime Tanaka, Sari Kawasaki, Eiichiro Uyama, Hidehiro Mizusawa, Nobuyoshi Fukuhara and Shoji Tsuji

    Article first published online : 25 AUG 2002, DOI: 10.1002/ana.10341

  16. Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy

    European Journal of Neurology

    Volume 14, Issue 9, September 2007, Pages: e14–e15, Y. Motozaki, K. Komai, M. Hirohata, T. Asaka, K. Ono and M. Yamada

    Article first published online : 20 AUG 2007, DOI: 10.1111/j.1468-1331.2007.01905.x

  17. Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes

    Muscle & Nerve

    Volume 32, Issue 6, December 2005, Pages: 812–814, Naoki Suzuki, Masashi Aoki, Hideki Mizuno, Yoshiaki Onodera, Toshiaki Takahashi, Tetsuya Nagata, Maki Tateyama and Yasuto Itoyama

    Article first published online : 22 AUG 2005, DOI: 10.1002/mus.20417

  18. Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of N-acetylmannosamine-6-phosphate 2-epimerase from methicillin-resistant Staphylococcus aureus

    Acta Crystallographica Section F

    Volume 70, Issue 5, May 2014, Pages: 650–655, Rachel A. North, Sarah A. Kessans, Michael D. W. Griffin, Andrew J. A. Watson, Antony J. Fairbanks and Renwick C. J. Dobson

    DOI: 10.1107/S2053230X14007171

  19. GNE Myopathy (Hereditary Inclusion-Body Myopathy/Distal Myopathy with Rimmed Vacuoles): Clinical Features and Epidemiology

    Muscle Aging, Inclusion-Body Myositis and Myopathies

    Zohar Argov, Ichizo Nishino, Ikuya Nonaka, Pages: 191–198, 2011

    Published Online : 19 DEC 2011, DOI: 10.1002/9781444398311.ch12

  20. Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy

    Muscle & Nerve

    Volume 28, Issue 1, July 2003, Pages: 113–117, Roberto Del Bo, Pierluigi Baron, Alessandro Prelle, Massimo Serafini, Maurizio Moggio, Alessio Di Fonzo, Marina Castagni, Nereo Bresolin and Giacomo Pietro Comi

    Article first published online : 11 APR 2003, DOI: 10.1002/mus.10391