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Items: 1 to 20 of 50

1.
Megan M. Shen, Christian Rummey, David R. Lynch
Ann Clin Transl Neurol. 2024 May; 11(5): 1110–1121. Published online 2024 Feb 23. doi: 10.1002/acn3.52027
PMCID:
PMC11093247
2.
Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun
Ann Clin Transl Neurol. 2024 Mar; 11(3): 540–553. Published online 2024 Feb 4. doi: 10.1002/acn3.51971
PMCID:
PMC10963286
3.
Cinthia Aguilera, Anna Esteve-Garcia, Carlos Casasnovas, Valentina Vélez-Santamaria, Laura Rausell, Pablo Gargallo, Javier Garcia-Planells, Pedro Alía, Núria Llecha, Ariadna Padró-Miquel
BMC Med Genomics. 2023; 16: 312. Published online 2023 Dec 1. doi: 10.1186/s12920-023-01743-0
PMCID:
PMC10693098
4.
Chiara Pane, Alberto Maria Marra, Ludovica Aliberti, Mario Campanile, Federica Coscetta, Giulia Crisci, Roberta D'Assante, Angela Marsili, Giorgia Puorro, Andrea Salzano, Antonio Cittadini, Francesco Saccà
Front Neurosci. 2023; 17: 1260977. Published online 2023 Sep 7. doi: 10.3389/fnins.2023.1260977
PMCID:
PMC10513368
5.
Bharathram Uppili, Pooja Sharma, Istaq Ahmad, Shweta Sahni, Vivekanand Asokachandran, Anil B Nagaraja, Achal K Srivastava, Mohammed Faruq
Brain Commun. 2023; 5(2): fcad020. Published online 2023 Mar 29. doi: 10.1093/braincomms/fcad020
PMCID:
PMC10053634
6.
Massimo Pandolfo, Kathrin Reetz, Alejandra Darling, Francisco Javier Rodriguez de Rivera, Pierre-Gilles Henry, James Joers, Christophe Lenglet, Isaac Adanyeguh, Dinesh Deelchand, Fanny Mochel, Françoise Pousset, Sílvia Pascual, Delphine Van den Eede, Itziar Martin-Ugarte, Anna Vilà-Brau, Adriana Mantilla, María Pascual, Marc Martinell, Uwe Meya, Alexandra Durr
Neurol Genet. 2022 Dec; 8(6): e200034. Published online 2022 Nov 1. doi: 10.1212/NXG.0000000000200034
PMCID:
PMC9747094
7.
Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, the Clinical Management Guidelines Writing Group
Orphanet J Rare Dis. 2022; 17: 415. Published online 2022 Nov 12. doi: 10.1186/s13023-022-02568-3
PMCID:
PMC9652828
8.
Christian Rummey, Louise A. Corben, Martin Delatycki, George Wilmot, Sub H. Subramony, Manuela Corti, Khalaf Bushara, Antoine Duquette, Christopher Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Neurology. 2022 Oct 4; 99(14): e1499–e1510. doi: 10.1212/WNL.0000000000200913
PMCID:
PMC9576299
9.
Gabriel Matos-Rodrigues, Niek van Wietmarschen, Wei Wu, Veenu Tripathi, Natasha Koussa, Raphael Pavani, William Nathan, Elsa Callen, Frida Belinky, Ashraf Mohammed, Marek Napierala, Karen Usdin, Aseem Z. Ansari, Sergei M. Mirkin, André Nussenzweig
Mol Cell.
Published in final edited form as: Mol Cell. 2022 Oct 6; 82(19): 3538–3552.e5. Published online 2022 Sep 7. doi: 10.1016/j.molcel.2022.08.007
PMCID:
PMC9547894
10.
Adam P. Vogel, Lisa H. Graf, Michelle Magee, Ludger Schöls, Natalie Rommel, Matthis Synofzik
Ann Clin Transl Neurol. 2022 Aug; 9(8): 1310–1315. Published online 2022 Jun 21. doi: 10.1002/acn3.51613
PMCID:
PMC9380135
11.
Ian H. Harding, Sidhant Chopra, Filippo Arrigoni, Sylvia Boesch, Arturo Brunetti, Sirio Cocozza, Louise A. Corben, Andreas Deistung, Martin Delatycki, Stefano Diciotti, Imis Dogan, Stefania Evangelisti, Marcondes C. França, Jr, Sophia L. Göricke, Nellie Georgiou‐Karistianis, Laura L. Gramegna, Pierre‐Gilles Henry, Carlos R. Hernandez‐Castillo, Diane Hutter, Neda Jahanshad, James M. Joers, Christophe Lenglet, Raffaele Lodi, David N. Manners, Alberto R. M. Martinez, Andrea Martinuzzi, Chiara Marzi, Mario Mascalchi, Wolfgang Nachbauer, Chiara Pane, Denis Peruzzo, Pramod K. Pisharady, Giuseppe Pontillo, Kathrin Reetz, Thiago J. R. Rezende, Sandro Romanzetti, Francesco Saccà, Christoph Scherfler, Jörg B. Schulz, Ambra Stefani, Claudia Testa, Sophia I. Thomopoulos, Dagmar Timmann, Stefania Tirelli, Caterina Tonon, Marinela Vavla, Gary F. Egan, Paul M. Thompson
Ann Neurol. 2021 Oct; 90(4): 570–583. Published online 2021 Sep 17. doi: 10.1002/ana.26200
PMCID:
PMC9292360
12.
Layne N. Rodden, Christian Rummey, Yi Na Dong, David R. Lynch
Neurol Genet. 2022 Jun; 8(3): e683. Published online 2022 May 17. doi: 10.1212/NXG.0000000000000683
PMCID:
PMC9128033
13.
Jaclyn Tamaroff, Anna DeDio, Kristin Wade, McKenzie Wells, Courtney Park, Karla Leavens, Christian Rummey, Andrea Kelly, David R. Lynch, Shana E. McCormack
Diabetes Res Clin Pract.
Published in final edited form as: Diabetes Res Clin Pract. 2022 Apr; 186: 109828. Published online 2022 Mar 14. doi: 10.1016/j.diabres.2022.109828
PMCID:
PMC9075677
14.
Gilles Naeije, Jörg B Schulz, Louise A Corben
BMC Neurol. 2022; 22: 97. Published online 2022 Mar 17. doi: 10.1186/s12883-022-02615-3
PMCID:
PMC8928653
15.
Beata Monfort, Kristian Want, Sylvain Gervason, Benoit D’Autréaux
Front Neurosci. 2022; 16: 838335. Published online 2022 Mar 2. doi: 10.3389/fnins.2022.838335
PMCID:
PMC8924461
16.
Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, WGS for Neurological Diseases Group, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, Genomics England Research Consortium
Lancet Neurol. 2022 Mar; 21(3): 234–245. doi: 10.1016/S1474-4422(21)00462-2
PMCID:
PMC8850201
17.
Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti
Int J Mol Sci. 2021 Jul; 22(14): 7507. Published online 2021 Jul 13. doi: 10.3390/ijms22147507
PMCID:
PMC8307455
18.
Erika Mejia, Abigail Lynch, Patrick Hearle, Oluwatimilehin Okunowo, Heather Griffis, Maully Shah, David Lynch, Kimberly Y. Lin
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2021 Apr; 117: 29–33. Published online 2021 Jan 23. doi: 10.1016/j.pediatrneurol.2021.01.004
PMCID:
PMC8085807
19.
Sarah C Milne, Louise A Corben, Melissa Roberts, David Szmulewicz, J Burns, Anneke C Grobler, Shannon Williams, Jillian Chua, Christina Liang, Phillipa J Lamont, Alison C Grootendorst, Libby Massey, Carolyn Sue, Kim Dalziel, Desiree LaGrappe, Liz Willis, Aleka Freijah, Paul Gerken, Martin B Delatycki
BMJ Open. 2020; 10(12): e040230. Published online 2020 Dec 17. doi: 10.1136/bmjopen-2020-040230
PMCID:
PMC7747606
20.
Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Durr, Thomas Klopstock, Ludger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch, on behalf of the EFACTS (European Friedreich’s Ataxia Consortium for Translational Studies)
Orphanet J Rare Dis. 2020; 15: 198. Published online 2020 Aug 3. doi: 10.1186/s13023-020-01475-9
PMCID:
PMC7397644

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