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There are 205647 results for: content related to: Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

  1. DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation

    Movement Disorders

    Volume 25, Issue 14, 30 October 2010, Pages: 2420–2427, Justus L. Groen, Katja Ritz, Maria Fiorella Contarino, Bart P. van de Warrenburg, Majid Aramideh, Elisabeth M. Foncke, Jacobus J. van Hilten, P. Richard Schuurman, Johannes D. Speelman, Johannes H. Koelman, Rob M.A. de Bie, Frank Baas and Marina A. Tijssen

    Version of Record online : 4 AUG 2010, DOI: 10.1002/mds.23285

  2. You have free access to this content
    Two-Year Safety and Efficacy of Biodegradable Polymer Drug-Eluting Stent Versus Second-Generation Durable Polymer Drug-Eluting Stent in Patients With Acute Myocardial Infarction: Data from the Korea Acute Myocardial Infarction Registry (KAMIR)

    Clinical Cardiology

    Volume 39, Issue 5, May 2016, Pages: 276–284, Seung-Ho Hur, In-Cheol Kim, Ki-Bum Won, Yun-Kyeong Cho, Hyuck-Jun Yoon, Chang-Wook Nam, Kwon-Bae Kim, Min-Seok Kim, Jincheol Park, Seung-Woon Rha, Shung-Chull Chae, Young-Jo Kim, Chong-Jin Kim, Myeong-Chan Cho, Myung-Ho Jeong, Young-Keun Ahn, Hyo-Soo Kim, Tae-Hoon Ahn, Ki-Bae Seung, Yangsoo Jang, Jung-Han Yoon, In-Whan Seong, Taek-Jong Hong, Jang-Ho Bae, Seung-Jung Park and for the KAMIR (Korea Acute Myocardial Infarction Registry) Investigators

    Version of Record online : 30 MAR 2016, DOI: 10.1002/clc.22525

  3. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity

    Movement Disorders

    Volume 28, Issue 6, June 2013, Pages: 795–803, Maja Kojovic, Isabel Pareés, Tania Lampreia, Karolina Pienczk-Reclawowicz, Georgia Xiromerisiou, Ignacio Rubio-Agusti, Milica Kramberger, Miryam Carecchio, Anas M. Alazami, Francesco Brancati, Jaroslaw Slawek, Zvezdan Pirtosek, Enza Maria Valente, Fowzan S. Alkuraya, Mark J. Edwards and Kailash P. Bhatia

    Version of Record online : 15 FEB 2013, DOI: 10.1002/mds.25394

  4. Delayed-onset Friedreich's ataxia revisited

    Movement Disorders

    Volume 31, Issue 1, January 2016, Pages: 62–69, Claire Lecocq, Perrine Charles, Jean-Philippe Azulay, Wassilios Meissner, Myriam Rai, Karine N'Guyen, Yann Péréon, Nelly Fabre, Elsa Robin, Sylvie Courtois, Lucie Guyant-Maréchal, Fabien Zagnoli, Gabrielle Rudolf, Mathilde Renaud, Mathieu Sévin-Allouet, Fabien Lesne, Nick Alaerts, Cyril Goizet, Patrick Calvas, Alexandre Eusebio, Claire Guissart, Pascal Derkinderen, Francois Tison, Alexis Brice, Michel Koenig, Massimo Pandolfo, Christine Tranchant, Alexandra Dürr and Mathieu Anheim

    Version of Record online : 21 SEP 2015, DOI: 10.1002/mds.26382

  5. Reduced intensity conditioning in allogeneic stem cell transplantation for AML with Down syndrome

    Pediatric Blood & Cancer

    Volume 61, Issue 5, May 2014, Pages: 925–927, Hideki Muramatsu, Hirotoshi Sakaguchi, Takashi Taga, Ken Tabuchi, Souichi Adachi, Masami Inoue, Toshiyuki Kitoh, Aiko Suminoe, Hiromasa Yabe, Eichi Azuma, Yoko Shioda, Atsushi Ogawa, Akitoshi Kinoshita, Hisato Kigasawa, Yuko Osugi, Kazutoshi Koike, Keisei Kawa, Koji Kato, Yoshiko Atsuta and Kazuko Kudo

    Version of Record online : 2 DEC 2013, DOI: 10.1002/pbc.24883

  6. Mutation screening of the DYT6/THAP1 gene in Italy

    Movement Disorders

    Volume 24, Issue 16, 15 December 2009, Pages: 2424–2427, Monica Bonetti, Chiara Barzaghi, Francesco Brancati, Alessandro Ferraris, Emanuele Bellacchio, Alessandro Giovanetti, Tamara Ialongo, Giovanna Zorzi, Carla Piano, Martina Petracca, Alberto Albanese, Nardo Nardocci, Bruno Dallapiccola, Anna Rita Bentivoglio, Barbara Garavaglia and Enza Maria Valente

    Version of Record online : 11 NOV 2009, DOI: 10.1002/mds.22861

  7. Effect of cytochrome P4502C19 genotypic differences on cure rates for gastroesophageal reflux disease by lansoprazole

    Clinical Pharmacology & Therapeutics

    Volume 72, Issue 4, October 2002, Pages: 453–460, Takahisa Furuta, Naohito Shirai, Fumitoshi Watanabe, Satoru Honda, Ken Takeuchi, Takayuki Iida, Yoshihiko Sato, Masayoshi Kajimura, Hajime Futami, Shigekazu Takayanagi, Masami Yamada, Kyoichi Ohashi, Takashi Ishizaki and Hiroyuki Hanai

    Version of Record online : 22 OCT 2002, DOI: 10.1067/mcp.2002.127637

  8. Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

    Annals of Neurology

    Volume 73, Issue 1, January 2013, Pages: 48–57, Yuriko Yoneda, Kazuhiro Haginoya, Mitsuhiro Kato, Hitoshi Osaka, Kenji Yokochi, Hiroshi Arai, Akiyoshi Kakita, Takamichi Yamamoto, Yoshiro Otsuki, Shin-ichi Shimizu, Takahito Wada, Norihisa Koyama, Yoichi Mino, Noriko Kondo, Satoru Takahashi, Shinichi Hirabayashi, Jun-ichi Takanashi, Akihisa Okumura, Toshiyuki Kumagai, Satori Hirai, Makoto Nabetani, Shinji Saitoh, Ayako Hattori, Mami Yamasaki, Akira Kumakura, Yoshinobu Sugo, Kiyomi Nishiyama, Satoko Miyatake, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Naomichi Matsumoto and Hirotomo Saitsu

    Version of Record online : 7 DEC 2012, DOI: 10.1002/ana.23736

  9. Preoperative assessment of lymph node metastasis in endometrial cancer: A Korean Gynecologic Oncology Group study

    Cancer

    Volume 123, Issue 2, January 15, 2017, Pages: 263–272, Sokbom Kang, Joo-Hyun Nam, Duk-Soo Bae, Jae-Weon Kim, Moon-Hong Kim, Xiaojun Chen, Jae-Hong No, Jong-Min Lee, Jae-Hoon Kim, Hidemich Watari, Seok Mo Kim, Sung Hoon Kim, Seok Ju Seong, Ki Tae Kim, Seung Cheol Kim, Jong-Hyeok Kim, Myung-Cheol Lim, Jung-Yun Lee, Sang-Young Ryu, Bingyi Yang and Byoung-Gie Kim

    Version of Record online : 7 NOV 2016, DOI: 10.1002/cncr.30349

  10. Additional genetic risk factor for death in children with acute lymphoblastic leukemia: A common polymorphism of the MTHFR gene

    Pediatric Blood & Cancer

    Volume 52, Issue 3, March 2009, Pages: 364–368, Jacek J. Pietrzyk, Miroslaw Bik-Multanowski, Walentyna Balwierz, Szymon Skoczen, Dorota Wojcik, Alicja Chybicka, Barbara Sikorska-Fic, Michal Matysiak, Tomasz Szczepanski, Danuta Sonta-Jakimczyk, Anna Ploszynska, Anna Balcerska, Katarzyna Mycko, Jerzy Bodalski, Maryna Krawczuk-Rybak, Jerzy Kowalczyk, Andrzej Koltan, Grazyna Sobol, Katarzyna Derwich and Przemko Kwinta

    Version of Record online : 6 NOV 2008, DOI: 10.1002/pbc.21815

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    Replication of enhanced carbonyl stress in a subpopulation of schizophrenia

    Psychiatry and Clinical Neurosciences

    Volume 68, Issue 1, January 2014, Pages: 83–84, Mitsuhiro Miyashita, Makoto Arai, Hiroko Yuzawa, Kazuhiro Niizato, Kenichi Oshima, Itaru Kushima, Ryota Hashimoto, Motoyuki Fukumoto, Shinsuke Koike, Tomoko Toyota, Hiroshi Ujike, Tadao Arinami, Kiyoto Kasai, Masatoshi Takeda, Norio Ozaki, Yuji Okazaki, Takeo Yoshikawa, Naoji Amano, Toshio Miyata and Masanari Itokawa

    Version of Record online : 28 OCT 2013, DOI: 10.1111/pcn.12081

  12. The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia

    Movement Disorders

    Volume 26, Issue 3, 15 February 2011, Pages: 549–553, Jianfeng Xiao, Yu Zhao, Robert W. Bastian, Joel S. Perlmutter, Brad A. Racette, Samer D. Tabbal, Morvarid Karimi, Randal C. Paniello, Zbigniew K. Wszolek, Ryan J. Uitti, Jay A. Van Gerpen, David K. Simon, Daniel Tarsy, Peter Hedera, Daniel D. Truong, Karen P. Frei, Andrew Blitzer, Monika Rudzińska, Ronald F. Pfeiffer, Carrie Le and Mark S. LeDoux

    Version of Record online : 2 MAR 2011, DOI: 10.1002/mds.23551

  13. Unhealthy substance-use behaviors as symptom-related self-care in persons with HIV/AIDS

    Nursing & Health Sciences

    Volume 13, Issue 1, March 2011, Pages: 16–26, John M. Brion, Carol Dawson Rose, Patrice K. Nicholas, Rick Sloane, Joachim G. Voss, Inge B. Corless, Teri G. Lindgren, Dean J. Wantland, Jeanne K. Kemppainen, Elizabeth F. Sefcik, Kathleen M. Nokes, Kenn M. Kirksey, Lucille Sanzero Eller, Mary Jane Hamilton, William L. Holzemer, Carmen J. Portillo, Marta Rivero Mendez, Linda M. Robinson, Shahnaz Moezzi, Maria Rosa, Sarie Human, Mary Maryland, John Arudo, Ana Viamonte Ros, Thomas P. Nicholas, Yvette Cuca, Emily Huang, Catherine Bain, Lynda Tyer-Viola, Sheryl M. Zang, Maureen Shannon, Angelleen Peters-Lewis and Suzanne Willard

    Version of Record online : 19 JAN 2011, DOI: 10.1111/j.1442-2018.2010.00572.x

  14. DYT 6—A novel THAP1 mutation with excellent effect on pallidal DBS

    Movement Disorders

    Volume 26, Issue 5, April 2011, Pages: 924–925, Robert Jech, Martin Bareš, Anna Křepelová, Dušan Urgošík, Petra Havránková and Evžen Růžička

    Version of Record online : 21 MAR 2011, DOI: 10.1002/mds.23599

  15. C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome-wide meta-analysis

    Annals of Neurology

    Volume 76, Issue 1, July 2014, Pages: 120–133, Frank P. Diekstra, Vivianna M. Van Deerlin, John C. van Swieten, Ammar Al-Chalabi, Albert C. Ludolph, Jochen H. Weishaupt, Orla Hardiman, John E. Landers, Robert H. Brown Jr, Michael A. van Es, R. Jeroen Pasterkamp, Max Koppers, Peter M. Andersen, Karol Estrada, Fernando Rivadeneira, Albert Hofman, André G. Uitterlinden, Philip van Damme, Judith Melki, Vincent Meininger, Aleksey Shatunov, Christopher E. Shaw, P. Nigel Leigh, Pamela J. Shaw, Karen E. Morrison, Isabella Fogh, Adriano Chiò, Bryan J. Traynor, David Czell, Markus Weber, Peter Heutink, Paul I. W. de Bakker, Vincenzo Silani, Wim Robberecht, Leonard H. van den Berg and Jan H. Veldink

    Version of Record online : 27 JUN 2014, DOI: 10.1002/ana.24198

  16. You have full text access to this OnlineOpen article
    The phenotypic spectrum of DYT24 due to ANO3 mutations

    Movement Disorders

    Volume 29, Issue 7, June 2014, Pages: 928–934, Maria Stamelou, Gavin Charlesworth, Carla Cordivari, Susanne A. Schneider, Georg Kägi, Una-Marie Sheerin, Ignacio Rubio-Agusti, Amit Batla, Henry Houlden, Nicholas W. Wood and Kailash P. Bhatia

    Version of Record online : 17 JAN 2014, DOI: 10.1002/mds.25802

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    Mutations in MME cause an autosomal-recessive Charcot–Marie–Tooth disease type 2

    Annals of Neurology

    Volume 79, Issue 4, April 2016, Pages: 659–672, Yujiro Higuchi, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Jun Mitsui, Hiroyuki Ishiura, Masaki Tanaka, Satoshi Ishihara, Hajime Tanabe, Satoshi Nozuma, Yuji Okamoto, Eiji Matsuura, Ryuichi Ohkubo, Saeko Inamizu, Wataru Shiraishi, Ryo Yamasaki, Yasumasa Ohyagi, Jun-ichi Kira, Yasushi Oya, Hayato Yabe, Noriko Nishikawa, Shinsuke Tobisawa, Nozomu Matsuda, Masayuki Masuda, Chiharu Kugimoto, Kazuhiro Fukushima, Satoshi Yano, Jun Yoshimura, Koichiro Doi, Masanori Nakagawa, Shinichi Morishita, Shoji Tsuji and Hiroshi Takashima

    Version of Record online : 17 MAR 2016, DOI: 10.1002/ana.24612

  18. Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

    Movement Disorders

    Volume 28, Issue 12, October 2013, Pages: 1740–1744, Michael G. Heckman, Alexandra I. Soto-Ortolaza, Jan O. Aasly, Nadine Abahuni, Grazia Annesi, Justin A. Bacon, Soraya Bardien, Maria Bozi, Alexis Brice, Laura Brighina, Jonathan Carr, Marie-Christine Chartier-Harlin, Efthimios Dardiotis, Dennis W. Dickson, Nancy N. Diehl, Alexis Elbaz, Carlo Ferrarese, Brian Fiske, J. Mark Gibson, Rachel Gibson, Georgios M. Hadjigeorgiou, Nobutaka Hattori, John P.A. Ioannidis, Magdalena Boczarska-Jedynak, Barbara Jasinska-Myga, Beom S. Jeon, Yun Joong Kim, Christine Klein, Rejko Kruger, Elli Kyratzi, Suzanne Lesage, Chin-Hsien Lin, Timothy Lynch, Demetrius M. Maraganore, George D. Mellick, Eugénie Mutez, Christer Nilsson, Grzegorz Opala, Sung Sup Park, Simona Petrucci, Andreas Puschmann, Aldo Quattrone, Manu Sharma, Peter A. Silburn, Young Ho Sohn, Leonidas Stefanis, Vera Tadic, Jessie Theuns, Hiroyuki Tomiyama, Ryan J. Uitti, Enza Maria Valente, Christine Van Broeckhoven, Simone van de Loo, Demetrios K. Vassilatis, Carles Vilariño-Güell, Linda R. White, Karin Wirdefeldt, Zbigniew K. Wszolek, Ruey-Meei Wu, Faycal Hentati, Matthew J. Farrer, Owen A. Ross and on behalf of the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

    Version of Record online : 2 AUG 2013, DOI: 10.1002/mds.25600

  19. More Stable and Reliable Pharmacokinetics with Preprandial Administration of Cyclosporine Compared with Postprandial Administration in Patients with Refractory Nephrotic Syndrome

    Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy

    Volume 25, Issue 1, January 2005, Pages: 52–58, Tetsuro Kusaba, Yusuke Konno, Shigeo Hatta, Tomoya Fujino, Takashi Yasuda, Hiroshi Miura, Hiroyo Sasaki, Jun Okabayashi, Mei Murao, Tsutomu Sakurada, Goro Imai, Sayuri Shirai, Shingo Kuboshima, Yoshinori Shima, Goichi Ogimoto, Takeo Sato, Keisou Masuhara and Kenjiro Kimura

    Version of Record online : 16 JAN 2012, DOI: 10.1592/phco.25.1.52.55617

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    The outcome of surgical treatment for elderly patients with gastric carcinoma

    Journal of Surgical Oncology

    Volume 111, Issue 7, June 1, 2015, Pages: 848–854, Katsunobu Sakurai, Kazuya Muguruma, Hisashi Nagahara, Kenjiro Kimura, Takahiro Toyokawa, Ryosuke Amano, Naoshi Kubo, Hiroaki Tanaka, Hiroshi Ohtani, Masakazu Yashiro, Kiyoshi Maeda, Masaichi Ohira and Kosei Hirakawa

    Version of Record online : 8 MAR 2015, DOI: 10.1002/jso.23896