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Items: 1 to 20 of 27

1.
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia
Roberto Cilia, Chiara Reale, Anna Castagna, Alessia Nasca, Marco Muzi-Falconi, Chiara Barzaghi, Alberto Marzegan, Magda Granata, Giorgio Marotta, Giorgio Sacilotto, Davide Vallauri, Gianni Pezzoli, Stefano Goldwurm, Barbara Garavaglia
Neurology. 2014 Sep 23; 83(13): 1155–1162. doi: 10.1212/WNL.0000000000000821
PMCID:
PMC10695665
AbstractArticlePDF–710K
2.
SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1
Ting Qiu, Lei Hou, Lina Zhao, Xinye Wang, Zhongmei Zhou, Chuanyu Yang, Huifeng Zhang, Dewei Jiang, Baowei Jiao, Ceshi Chen
J Biol Chem. 2023 Nov; 299(11): 105351. Published online 2023 Oct 12. doi: 10.1016/j.jbc.2023.105351
PMCID:
PMC10641673
AbstractArticlePDF–4.2M
3.
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia
Alessandra Sperandeo, Claudia Tamburini, Zoe Noakes, Daniel Cabezas de la Fuente, Francesca Keefe, Olena Petter, William Plumbly, Nicholas E Clifton, Meng Li, Kathryn J Peall
Brain. 2023 Apr; 146(4): 1523–1541. Published online 2022 Oct 7. doi: 10.1093/brain/awac365
PMCID:
PMC10115238
AbstractArticlePDF–2.1M
4.
Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child
Mohammed F. Aljabri, Naglaa M. Kamal, Abdulrhman Alghamdi, Hamdan Alghamdi, Naif Alomairi
Ital J Pediatr. 2021; 47: 33. Published online 2021 Feb 15. doi: 10.1186/s13052-021-00986-w
PMCID:
PMC7885206
AbstractArticlePDF–766K
5.
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia
Karen Grütz, Philip Seibler, Anne Weissbach, Katja Lohmann, Francesca A. Carlisle, Derek J. Blake, Ana Westenberger, Christine Klein, Anne Grünewald
Sci Rep. 2017; 7: 41156. Published online 2017 Feb 3. doi: 10.1038/srep41156
PMCID:
PMC5290732
AbstractArticlePDF–1.5M
6.
Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study
Rodi Zutt, Joke M. Dijk, Kathryn J. Peall, Hans Speelman, Yasmine E. M. Dreissen, Maria Fiorella Contarino, Marina A. J. Tijssen
Front Neurol. 2016; 7: 72. Published online 2016 May 13. doi: 10.3389/fneur.2016.00072
PMCID:
PMC4865489
AbstractArticlePDF–143K
7.
Psychiatric disorders, myoclonus dystonia and SGCE: an international study
Kathryn J. Peall, Joke M. Dijk, Rachel Saunders‐Pullman, Yasmine E. M. Dreissen, Ilke van Loon, Danielle Cath, Manju A. Kurian, Michael J. Owen, Elisabeth M. J. Foncke, Huw R. Morris, Thomas Gasser, Susan Bressman, Friedrich Asmus, Marina A. J. Tijssen
Ann Clin Transl Neurol. 2016 Jan; 3(1): 4–11. Published online 2015 Nov 20. doi: 10.1002/acn3.263
PMCID:
PMC4704478
AbstractArticlePDF–150K
8.
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
Kathryn J. Peall, Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean-Pierre Lin, Martin Smith, Alan Whone, Hardev Pall, Cathy White, Andrew Lux, Philip E. Jardine, Bryan Lynch, George Kirov, Sean O’Riordan, Michael Samuel, Timothy Lynch, Mary D. King, Patrick F. Chinnery, Thomas T. Warner, Derek J. Blake, Michael J. Owen, Huw R. Morris
J Neurol. Author manuscript; available in PMC 2015 Jul 8.
Published in final edited form as: J Neurol. 2014 Dec; 261(12): 2296–2304. Published online 2014 Sep 11. doi: 10.1007/s00415-014-7488-3
PMCID:
PMC4495322
AbstractArticlePDF–636K
9.
SGCE mutations cause psychiatric disorders: clinical and genetic characterization
Kathryn J. Peall, Daniel J. Smith, Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean-Pierre Lin, Martin Smith, Alan Whone, Hardev Pall, Cathy White, Andrew Lux, Philip Jardine, Narinder Bajaj, Bryan Lynch, George Kirov, Sean O’Riordan, Michael Samuel, Timothy Lynch, Mary D. King, Patrick F. Chinnery, Thomas T. Warner, Derek J. Blake, Michael J. Owen, Huw R. Morris
Brain. Author manuscript; available in PMC 2014 Jun 11.
Published in final edited form as: Brain. 2013 Jan; 136(0 1): 294–303. doi: 10.1093/brain/aws308
PMCID:
PMC4052887
AbstractArticlePDF–300K
10.
Metabolic changes in DYT11 myoclonus-dystonia
Maren Carbon, Deborah Raymond, Laurie Ozelius, Rachel Saunders-Pullman, Steven Frucht, Vijay Dhawan, Susan Bressman, David Eidelberg
Neurology. 2013 Jan 22; 80(4): 385–391. doi: 10.1212/WNL.0b013e31827f0798
PMCID:
PMC3589244
AbstractArticlePDF–388K
11.
SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?
Katja Ritz, Barbera DC van Schaik, Marja E Jakobs, Antoine H van Kampen, Eleonora Aronica, Marina A Tijssen, Frank Baas
Eur J Hum Genet. 2011 Apr; 19(4): 438–444. Published online 2010 Dec 15. doi: 10.1038/ejhg.2010.206
PMCID:
PMC3060322
AbstractArticlePDF–573K
12.
Clinical and Neurophysiological Improvement of SGCE Myoclonus-Dystonia with GPi Deep Brain Stimulation
Monica M Kurtis, Marta San Luciano, Qiping Yu, Robert R Goodman, Blair Ford, Deborah Raymond, Seth Pullman, Rachel Saunders-Pullman
Clin Neurol Neurosurg. Author manuscript; available in PMC 2011 Feb 1.
Published in final edited form as: Clin Neurol Neurosurg. 2010 Feb; 112(2): 149. Published online 2009 Nov 5. doi: 10.1016/j.clineuro.2009.10.001
PMCID:
PMC2815107
AbstractArticlePDF–282K
13.
Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia
Birgitt Müller, Katja Hedrich, Norman Kock, Natasa Dragasevic, Marina Svetel, Jennifer Garrels, Olfert Landt, Matthias Nitschke, Peter P. Pramstaller, Wolf Reik, Eberhard Schwinger, Jürgen Sperner, Laurie Ozelius, Vladimir Kostic, Christine Klein
Am J Hum Genet. 2002 Dec; 71(6): 1303–1311. Published online 2002 Nov 20. doi: 10.1086/344531
PMCID:
PMC378568
AbstractArticlePDF–313K
14.
SGCE Promotes Breast Cancer Stem Cells by Stabilizing EGFR
Lina Zhao, Ting Qiu, Dewei Jiang, Haibo Xu, Li Zou, Qin Yang, Ceshi Chen, Baowei Jiao
Adv Sci (Weinh) 2020 Jul; 7(14): 1903700. Published online 2020 Jun 8. doi: 10.1002/advs.201903700
PMCID:
PMC7375232
AbstractArticlePDF–4.4M
15.
Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma
Hui Dong, Hongyi Zhang, Jianping Liang, Huadong Yan, Yangyi Chen, Yan Shen, Yalin Kong, Shengyue Wang, Guoping Zhao, Weirong Jin
BMC Med Genomics. 2011; 4: 60. Published online 2011 Jul 19. doi: 10.1186/1755-8794-4-60
PMCID:
PMC3152898
AbstractArticlePDF–461K
16.
Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma
Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn
Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255
PMCID:
PMC10916866
AbstractArticlePDF–4.7M
17.
Proteome‐scale mapping of binding sites in the unstructured regions of the human proteome
Caroline Benz, Muhammad Ali, Izabella Krystkowiak, Leandro Simonetti, Ahmed Sayadi, Filip Mihalic, Johanna Kliche, Eva Andersson, Per Jemth, Norman E Davey, Ylva Ivarsson
Mol Syst Biol. 2022 Jan; 18(1): e10584. Published online 2022 Jan 19. doi: 10.15252/msb.202110584
PMCID:
PMC8769072
AbstractArticlePDF–2.9M
18.
Widespread expansion of protein interaction capabilities by alternative splicing
Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal
Cell. Author manuscript; available in PMC 2017 Feb 11.
Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029
PMCID:
PMC4882190
AbstractArticlePDF–1.9M
19.
The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment
Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski
Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003
Correction in:
Genome Res. 2003 Dec; 13(12): 2759.
PMCID:
PMC403697
AbstractArticlePDF–120K
20.
High-throughput analyses of hnRNP H1 dissects its multi-functional aspect
Philip J. Uren, Emad Bahrami-Samani, Patricia Rosa de Araujo, Christine Vogel, Mei Qiao, Suzanne C. Burns, Andrew D. Smith, Luiz O. F. Penalva
RNA Biol. 2016 Apr; 13(4): 400–411. Published online 2016 Jan 13. doi: 10.1080/15476286.2015.1138030
PMCID:
PMC4841607
AbstractArticlePDF–1.6M

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