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Links from MedGen

Items: 1 to 20 of 32

1.
Atılım Atilgan, Mustafa Yuksel, Ayca Ciprut
Medeni Med J. 2019; 34(3): 318–323. Published online 2019 Sep 27. doi: 10.5222/MMJ.2019.53503
PMCID:
PMC7433731
2.
Ida Stenshorne, Magnhild Rasmussen, Panagiotis Salvanos, Chantal M. E. Tallaksen, Laurence A. Bindoff, Jeanette Koht
Cerebellum Ataxias. 2019; 6: 2. Published online 2019 Feb 8. doi: 10.1186/s40673-019-0096-3
PMCID:
PMC6368810
3.
Irene J. Chang, Margaret P. Adam, Suman Jayadev, Thomas D. Bird, Niranjana Natarajan, Ian A. Glass
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2018 Jan; 176(1): 235–240. Published online 2017 Nov 1. doi: 10.1002/ajmg.a.38502
PMCID:
PMC5726903
4.
Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, Shelin Adam, Yaoqing Shen, Shing Hei Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan Fryer, Steven JM Jones, Jan M Friedman
Orphanet J Rare Dis. 2014; 9: 15. Published online 2014 Jan 28. doi: 10.1186/1750-1172-9-15
PMCID:
PMC3937150
5.
Christian P. Roenn, Melody Li, Vivien R. Schack, Ian C. Forster, Rikke Holm, Mads S. Toustrup-Jensen, Jens P. Andersen, Steven Petrou, Bente Vilsen
J Biol Chem. 2019 Jan 4; 294(1): 269–280. Published online 2018 Nov 8. doi: 10.1074/jbc.RA118.004591
PMCID:
PMC6322875
6.
Matthew T. Sweney, Tara M. Newcomb, Kathryn J. Swoboda
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2015 Jan; 52(1): 56–64. Published online 2014 Oct 13. doi: 10.1016/j.pediatrneurol.2014.09.015
PMCID:
PMC4352574
7.
P Nicolaides, R E Appleton, A Fryer
J Med Genet. 1996 May; 33(5): 419–421. doi: 10.1136/jmg.33.5.419
PMCID:
PMC1050615
8.
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Brain. 2023 Aug; 146(8): 3162–3171. Published online 2023 Apr 12. doi: 10.1093/brain/awad124
PMCID:
PMC10393399
9.
Anhar Hassan
Tremor Other Hyperkinet Mov (N Y) 2023; 13: 9. Published online 2023 Mar 28. doi: 10.5334/tohm.747
PMCID:
PMC10064912
10.
Aikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, Saskia Koene, Catherine A. Brownstein, Muriel Holder-Espinasse, Andrew E. Fry, Andrea H. Németh, George K. Tofaris, Eleanor Hay, Imelda Hughes, Sahar Mansour, Santosh R. Mordekar, Miranda Splitt, Peter D. Turnpenny, Demetria Demetriou, Tamara T. Koopmann, Claudia A.L. Ruivenkamp, Pankaj B. Agrawal, Lucinda Carr, Virginia Clowes, Neeti Ghali, Susan Elizabeth Holder, Jessica Radley, Alison Male, Sanjay M. Sisodiya, Manju A. Kurian, J. Helen Cross, Meena Balasubramanian
Neurology. 2022 Oct 4; 99(14): e1511–e1526. doi: 10.1212/WNL.0000000000200927
PMCID:
PMC9576304
11.
Hannah W. Y. Ng, Jennifer A. Ogbeta, Steven J. Clapcote
Dis Model Mech. 2021 Oct 1; 14(10): dmm048938. Published online 2021 Oct 6. doi: 10.1242/dmm.048938
PMCID:
PMC8503543
12.
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska‐Smiech, Aleksandra Lewandowicz‐Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior‐Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel
Mol Genet Genomic Med. 2021 Sep; 9(9): e1772. Published online 2021 Aug 2. doi: 10.1002/mgg3.1772
PMCID:
PMC8457706
13.
Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya
Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794
PMCID:
PMC7734736
14.
Kyu-Hee Han, Doo-Yi Oh, Seungmin Lee, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Moo Kyun Park, Nayoung K. D. Kim, Jaekwang Lee, Eunyoung Yi, Jong-Min Kim, Jeong-Whun Kim, Jong-Hee Chae, Seung Ha Oh, Woong-Yang Park, Byung Yoon Choi
Sci Rep. 2017; 7: 16504. Published online 2017 Nov 28. doi: 10.1038/s41598-017-16676-9
PMCID:
PMC5705773
15.
Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara
BMC Neurol. 2016; 16: 174. Published online 2016 Sep 15. doi: 10.1186/s12883-016-0680-6
PMCID:
PMC5025569
16.
Anne Xuan-Lan Nguyen, Golnaz Zahedi-Niaki, Leonardo Lando, Cindy ML Hutnik, Albert Y Wu
Womens Health (Lond) 2023; 19: 17455057231219613. Published online 2023 Dec 21. doi: 10.1177/17455057231219613
PMCID:
PMC10748528
17.
Yinchao Li, Xianyue Liu, Chengzhe Wang, Zhengwei Su, Ke Zhao, Man Yang, Shuda Chen, Liemin Zhou
Front Neurol. 2022; 13: 924788. Published online 2022 Jul 26. doi: 10.3389/fneur.2022.924788
PMCID:
PMC9373902
18.
Saja Tahir, Nidheesh Chencheri, Abdalla A Abdalla, Mohamed O E Babiker
Cureus. 2021 Dec; 13(12): e20438. Published online 2021 Dec 15. doi: 10.7759/cureus.20438
PMCID:
PMC8759976
19.
Jelena De Vrieze, Ingrid M.B.H. van de Laar, Johanneke F. de Rijk-van Andel, Erik-Jan Kamsteeg, Irene A.W. Kotsopoulos, Stella A. de Man
Child Neurol Open. 2021 Jan-Dec; 8: 2329048X211048068. Published online 2021 Nov 3. doi: 10.1177/2329048X211048068
PMCID:
PMC8573619
20.
Alicia Wang, A. Eliot Shearer, Guang Wei Zhou, Margaret Kenna, Dennis Poe, Greg R. Licameli, Jacob R. Brodsky
Front Neurol. 2021; 12: 714543. Published online 2021 Oct 21. doi: 10.3389/fneur.2021.714543
PMCID:
PMC8567025

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