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Items: 15

1.
Matthias Christen, Rodrigo Gutierrez‐Quintana, Helene Vandenberghe, Adriana Kaczmarska, Jacques Penderis, Roberto José‐López, Angie Rupp, Ian R. Griffiths, Vidhya Jagannathan, Tosso Leeb
Anim Genet. 2022 Dec; 53(6): 814–820. Published online 2022 Sep 9. doi: 10.1111/age.13263
PMCID:
PMC9826423
2.
Sudhir Kshirsagar, Neha Sawant, Hallie Morton, Arubala P. Reddy, P. Hemachandra Reddy
Pharmacol Res.
Published in final edited form as: Pharmacol Res. 2021 Dec; 174: 105973. Published online 2021 Nov 8. doi: 10.1016/j.phrs.2021.105973
PMCID:
PMC8670983
3.
Andrea Coppa, Sanjib Guha, Stéphane Fourcade, Janani Parameswaran, Montserrat Ruiz, Ann Moser, Agatha Schlüter, Michael P. Murphy, Jose Miguel Lizcano, Antonio Miranda-Vizuete, Esther Dalfó, Aurora Pujol
Free Radic Biol Med.
Published in final edited form as: Free Radic Biol Med. 2020 May 20; 152: 797–809. Published online 2020 Feb 1. doi: 10.1016/j.freeradbiomed.2020.01.177
PMCID:
PMC7611262
4.
Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Baranano, Lauren C. Briere, Julie S. Cohen, William J. Craigen, Cheryl Cytrynbaum, Nina Ekhilevitch, Matthew J. Elrick, Ali Fatemi, Jamie L. Fraser, Renata C. Gallagher, Andrea Guerin, Devon Haynes, Frances A. High, Cara N. Inglese, Courtney Kiss, Mary Kay Koenig, Joel Krier, Kristin Lindstrom, Michael Marble, Hannah Meddaugh, Ellen S. Moran, Chantal F. Morel, Weiyi Mu, Eric A. Muller, II, Jessica Nance, Marvin R. Natowicz, Adam L. Numis, Bridget Ostrem, John Pappas, Carl E. Stafstrom, Haley Streff, David A. Sweetser, Marta Szybowska, Undiagnosed Diseases Network, Melissa A. Walker, Wei Wang, Karin Weiss, Rosanna Weksberg, Patricia G. Wheeler, Grace Yoon, Robert E. Kingston, Jane Juusola
Am J Hum Genet. 2020 Aug 6; 107(2): 352–363. Published online 2020 Jul 20. doi: 10.1016/j.ajhg.2020.06.013
PMCID:
PMC7413887
5.
Subodh Kumar, Arubala P Reddy, Xiangling Yin, P. Hemachandra Reddy
Biochim Biophys Acta Mol Basis Dis.
Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1; 1865(9): 2428–2440. Published online 2019 Jun 8. doi: 10.1016/j.bbadis.2019.06.006
PMCID:
PMC6688505
6.
Nurit Assia Batzir, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Christine M. Eng, Sarah H. Elsea, Laurie A. Robak, Fernando Scaglia, Alica M. Goldman, Shweta U. Dhar, Michael F. Wangler
Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003673. doi: 10.1101/mcs.a003673
PMCID:
PMC6549558
7.
Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini, Maria Adelaide Caligo
BMC Neurol. 2018; 18: 99. Published online 2018 Jul 20. doi: 10.1186/s12883-018-1103-7
PMCID:
PMC6054728
8.
Katalin Sas, Elza Szabó, László Vécsei
Molecules. 2018 Jan; 23(1): 191. Published online 2018 Jan 17. doi: 10.3390/molecules23010191
PMCID:
PMC6017505
9.
Alessia Nasca, Andrea Legati, Enrico Baruffini, Cecilia Nolli, Isabella Moroni, Anna Ardissone, Paola Goffrini, Daniele Ghezzi
Hum Mutat. 2016 Sep; 37(9): 898–903. Published online 2016 Jul 11. doi: 10.1002/humu.23033
PMCID:
PMC5108486
10.
Jason R Vanstone, Amanda M Smith, Skye McBride, Turaya Naas, Martin Holcik, Ghadi Antoun, Mary-Ellen Harper, Jean Michaud, Erick Sell, Pranesh Chakraborty, Martine Tetreault, Care4Rare Consortium, Jacek Majewski, Stephen Baird, Kym M Boycott, David A Dyment, Alex MacKenzie, Matthew A Lines
Eur J Hum Genet. 2016 Jul; 24(7): 1084–1088. Published online 2015 Nov 25. doi: 10.1038/ejhg.2015.243
PMCID:
PMC5070894
11.
Yu-Hsin Chao, Laurie A. Robak, Fan Xia, Mary K. Koenig, Adekunle Adesina, Carlos A. Bacino, Fernando Scaglia, Hugo J. Bellen, Michael F. Wangler
Hum Mol Genet. 2016 May 1; 25(9): 1846–1856. Published online 2016 Feb 29. doi: 10.1093/hmg/ddw059
PMCID:
PMC5007591
12.
Chiara La Morgia, Leonardo Caporali, Francesca Gandini, Anna Olivieri, Francesco Toni, Stefania Nassetti, Daniela Brunetto, Carlotta Stipa, Cristina Scaduto, Antonia Parmeggiani, Caterina Tonon, Raffaele Lodi, Antonio Torroni, Valerio Carelli
BMC Neurol. 2014; 14: 116. Published online 2014 May 28. doi: 10.1186/1471-2377-14-116
PMCID:
PMC4047257
13.
Jinho Kim, Jennifer P. Moody, Christina K. Edgerly, Olivia L. Bordiuk, Kerry Cormier, Karen Smith, M. Flint Beal, Robert J. Ferrante
Hum Mol Genet. 2010 Oct 15; 19(20): 3919–3935. Published online 2010 Jul 21. doi: 10.1093/hmg/ddq306
PMCID:
PMC2947400
14.
M J Blok, L Spruijt, I F M de Coo, K Schoonderwoerd, A Hendrickx, H J Smeets
J Med Genet. 2007 Apr; 44(4): e74. doi: 10.1136/jmg.2006.045716
PMCID:
PMC2598042
15.
R Horváth, A Abicht, E Holinski‐Feder, A Laner, K Gempel, H Prokisch, H Lochmüller, T Klopstock, M Jaksch
J Neurol Neurosurg Psychiatry. 2006 Jan; 77(1): 74–76. doi: 10.1136/jnnp.2005.067041
PMCID:
PMC2117401

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