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Links from MedGen

Items: 7

1.
Yi Shiau Ng, Nichola Z Lax, Alasdair P Blain, Daniel Erskine, Mark R Baker, Tuomo Polvikoski, Rhys H Thomas, Christopher M Morris, Ming Lai, Roger G Whittaker, Alasdair Gebbels, Amy Winder, Julie Hall, Catherine Feeney, Maria Elena Farrugia, Claire Hirst, Mark Roberts, Charlotte Lawthom, Alexia Chrysostomou, Kevin Murphy, Tracey Baird, Paul Maddison, Callum Duncan, Joanna Poulton, Victoria Nesbitt, Michael G Hanna, Robert D S Pitceathly, Robert W Taylor, Emma L Blakely, Andrew M Schaefer, Doug M Turnbull, Robert McFarland, Gráinne S Gorman
Brain. 2022 Feb; 145(2): 542–554. Published online 2021 Dec 20. doi: 10.1093/brain/awab353
PMCID:
PMC9014738
2.
Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulou
Brain. 2020 Jan; 143(1): 112–130. Published online 2019 Dec 3. doi: 10.1093/brain/awz374
PMCID:
PMC6935753
3.
Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu
BMC Med Genet. 2019; 20: 77. Published online 2019 May 7. doi: 10.1186/s12881-019-0798-7
PMCID:
PMC6505124
4.
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brain. 2017 Nov; 140(11): 2820–2837. Published online 2017 Sep 26. doi: 10.1093/brain/awx231
PMCID:
PMC5808726
5.
David C. Schorling, Simone Rost, Dirk J. Lefeber, Lauren Brady, Clemens R. Müller, Rudolf Korinthenberg, Mark Tarnopolsky, Carsten G. Bönnemann, Richard J. Rodenburg, Marianna Bugiani, Maria Beytia, Marcus Krüger, Marjo van der Knaap, Jan Kirschner
Neurology. 2017 Aug 15; 89(7): 657–664. doi: 10.1212/WNL.0000000000004234
PMCID:
PMC5562963
6.
Viorica Chelban, Nisha Patel, Jana Vandrovcova, M. Natalia Zanetti, David S. Lynch, Mina Ryten, Juan A. Botía, Oscar Bello, Eloise Tribollet, Stephanie Efthymiou, Indran Davagnanam, SYNAPSE Study Group, Fahad A. Bashiri, Nicholas W. Wood, James E. Rothman, Fowzan S. Alkuraya, Henry Houlden
Am J Hum Genet. 2017 Jun 1; 100(6): 969–977. Published online 2017 Jun 1. doi: 10.1016/j.ajhg.2017.05.009
PMCID:
PMC5473715
7.
Tuomas Komulainen, Reetta Hinttala, Mikko Kärppä, Leila Pajunen, Saara Finnilä, Hannu Tuominen, Heikki Rantala, Ilmo Hassinen, Kari Majamaa, Johanna Uusimaa
BMC Neurol. 2010; 10: 29. Published online 2010 May 3. doi: 10.1186/1471-2377-10-29
PMCID:
PMC2873323

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