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Links from MedGen

Items: 18

1.
Bo Hu, Sezgi Arpag, Stephan Zuchner, Jun Li
Ann Neurol.
Published in final edited form as: Ann Neurol. 2016 Dec; 80(6): 834–845. Published online 2016 Sep 27. doi: 10.1002/ana.24776
PMCID:
PMC5177458
2.
Daniel Moiseev, Zafar Wazir, Donghao Liu, Jun Li, Bo Hu
Sci Rep. 2022; 12: 12160. Published online 2022 Jul 16. doi: 10.1038/s41598-022-15902-3
PMCID:
PMC9288509
3.
Paulius Palaima, José Berciano, Kristien Peeters, Albena Jordanova
Orphanet J Rare Dis. 2021; 16: 74. Published online 2021 Feb 10. doi: 10.1186/s13023-020-01654-8
PMCID:
PMC7874611
4.
Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
PLoS One. 2019; 14(2): e0211814. Published online 2019 Feb 6. doi: 10.1371/journal.pone.0211814
PMCID:
PMC6364939
5.
Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice, Antonella Casella, Marzia Mearini, Fabrizio Gaudiello, José L. Pedroso, Chiara Terracciano, Carlo Caltagirone, Roberto Massa, Peter H. St George-Hyslop, Orlando G. P. Barsottini, Toshitaka Kawarai, Antonio Orlacchio
Brain. 2016 Jan; 139(1): 73–85. Published online 2015 Nov 10. doi: 10.1093/brain/awv320
PMCID:
PMC5839554
6.
Anna Minaidou, Paschalis Nicolaou, Kyproula Christodoulou
Cell J. 2018 Autumn; 20(3): 340–347. Published online 2018 May 28. doi: 10.22074/cellj.2018.5352
PMCID:
PMC6004992
7.
Leema Reddy Peddareddygari, Kinsi Oberoi, Jaasrini Reddy Vellore, Raji P. Grewal
Case Rep Neurol. 2016 May-Aug; 8(2): 120–126. Published online 2016 Jun 6. doi: 10.1159/000446872
PMCID:
PMC4939679
8.
Ribhav Mishra, Arun Upadhyay, Vijay Kumar Prajapati, Rohan Dhiman, Krishna Mohan Poluri, Nihar Ranjan Jana, Amit Mishra
Cell Mol Life Sci. 2019 Jun; 76(11): 2093–2110. Published online 2019 Mar 2. doi: 10.1007/s00018-019-03055-y
PMCID:
PMC11105512
9.
Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali
Int J Mol Sci. 2023 Jun; 24(12): 9786. Published online 2023 Jun 6. doi: 10.3390/ijms24129786
PMCID:
PMC10298462
10.
Shogo Ouchi, Kazuhiro Ishii, Kenjiro Kosaki, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Akira Tamaoka
BMC Neurol. 2023; 23: 211. Published online 2023 Jun 1. doi: 10.1186/s12883-023-03202-w
PMCID:
PMC10234071
11.
Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea
J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652
PMCID:
PMC8842757
12.
Andrea Cortese, Janel E. Wilcox, James M. Polke, Roy Poh, Mariola Skorupinska, Alexander M. Rossor, Matilde Laura, Pedro J. Tomaselli, Henry Houlden, Michael E. Shy, Mary M. Reilly
Neurology. 2020 Jan 7; 94(1): e51–e61. doi: 10.1212/WNL.0000000000008672
Correction in:
Neurology. 2020 Aug 11
Correction in:
Neurology. 2022 Apr 4
PMCID:
PMC7011687
13.
Alessia Peretti, Maud Perie, Didier Vincent, Françoise Bouhour, Klaus Dieterich, Martial Mallaret, Fanny Duval, Cyril Goizet, Raul Juntas-Morales, Laurent Magy, Guilhem Solé, Sylvain Nollet, Adeline Not, Sarah Léonard-Louis, Bruno Francou, Eric Leguern, Anne-Sophie Lia, Corinne Magdelaine, Philippe Latour, Tanya Stojkovic
Eur J Hum Genet. 2019 Sep; 27(9): 1406–1418. Published online 2019 Apr 17. doi: 10.1038/s41431-019-0403-8
PMCID:
PMC6777460
14.
Maik Engeholm, Julia Sekler, David C Schöndorf, Vineet Arora, Jens Schittenhelm, Saskia Biskup, Caroline Schell, Thomas Gasser
BMC Neurol. 2014; 14: 118. Published online 2014 Jun 3. doi: 10.1186/1471-2377-14-118
PMCID:
PMC4060843
15.
Laurent P. Bogdanik, James N. Sleigh, Cong Tian, Mark E. Samuels, Karen Bedard, Kevin L. Seburn, Robert W. Burgess
Dis Model Mech. 2013 May; 6(3): 780–792. Published online 2013 Mar 8. doi: 10.1242/dmm.010942
PMCID:
PMC3634660
16.
Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou
Eur J Hum Genet. 2013 Feb; 21(2): 190–194. Published online 2012 Jul 11. doi: 10.1038/ejhg.2012.146
PMCID:
PMC3548253
17.
Marian A.J. Weterman, Vincenzo Sorrentino, Paul R. Kasher, Marja E. Jakobs, Baziel G.M. van Engelen, Kees Fluiter, Marit B. de Wissel, Aleksander Sizarov, Gudrun Nürnberg, Peter Nürnberg, Noam Zelcer, H. Jurgen Schelhaas, Frank Baas
Hum Mol Genet. 2012 Jan 15; 21(2): 358–370. Published online 2011 Oct 19. doi: 10.1093/hmg/ddr471
PMCID:
PMC3276280
18.
Duane L. Guernsey, Haiyan Jiang, Karen Bedard, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L. Rideout, Andrew Orr, Mark Ludman, David L. Skidmore, Timothy Benstead, Mark E. Samuels
PLoS Genet. 2010 Aug; 6(8): e1001081. Published online 2010 Aug 26. doi: 10.1371/journal.pgen.1001081
PMCID:
PMC2928813

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