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Items: 1 to 20 of 119

1.
Michael J Rigby, Nicola Salvatore Orefice, Alexis J Lawton, Min Ma, Samantha L Shapiro, Sue Y Yi, Inca A Dieterich, Alyssa Frelka, Hannah N Miles, Robert A Pearce, John Paul J Yu, Lingjun Li, John M Denu, Luigi Puglielli
Brain. 2022 Feb; 145(2): 500–516. Published online 2022 Feb 25. doi: 10.1093/brain/awab295
PMCID:
PMC9014753
2.
Luc Rochette, Alexandre Meloux, Marianne Zeller, Gabriel Malka, Yves Cottin, Catherine Vergely
Molecules. 2020 May; 25(10): 2417. Published online 2020 May 22. doi: 10.3390/molecules25102417
PMCID:
PMC7288124
3.
Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A. Barbosa, Charu Deshpande, Robert W. Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller
Eur J Hum Genet. 2020 Mar; 28(3): 373–377. Published online 2019 Sep 16. doi: 10.1038/s41431-019-0506-2
PMCID:
PMC7029005
4.
Harvey R. Fernandez, Shreyas M. Gadre, Mingjun Tan, Garrett T. Graham, Rami Mosaoa, Martin S. Ongkeko, Kyu Ah Kim, Rebecca B. Riggins, Erika Parasido, Iacopo Petrini, Simone Pacini, Amrita Cheema, Rency Varghese, Habtom W Ressom, Yuwen Zhang, Christopher Albanese, Aykut Üren, Mikell Paige, Giuseppe Giaccone, Maria Laura Avantaggiati
Cell Death Differ. 2018 Jul; 25(7): 1239–1258. Published online 2018 Apr 12. doi: 10.1038/s41418-018-0101-z
PMCID:
PMC6030199
5.
Fa Qiong Xu, Ang Li, Jing Jing Lan, Yue Ming Wang, Mei Jiao Yan, Sen Yang Lian, Xu Wu
PLoS One. 2018; 13(1): e0191564. Published online 2018 Jan 29. doi: 10.1371/journal.pone.0191564
PMCID:
PMC5788541
6.
Vittoria Infantino, Vito Iacobazzi, Alessio Menga, Maria Laura Avantaggiati, Ferdinando Palmieri
Biochim Biophys Acta.
Published in final edited form as: Biochim Biophys Acta. 2014 Nov; 1839(11): 1217–1225. Published online 2014 Jul 27. doi: 10.1016/j.bbagrm.2014.07.013
PMCID:
PMC4346166
7.
Maciej P Mazurek, Puttur D Prasad, Elangovan Gopal, Scott P Fraser, Leszek Bolt, Nahit Rizaner, Christopher P Palmer, Christopher S Foster, Ferdinando Palmieri, Vadivel Ganapathy, Walter Stühmer, Mustafa B A Djamgoz, Maria E Mycielska
EMBO Rep. 2010 Jun; 11(6): 431–437. Published online 2010 May 7. doi: 10.1038/embor.2010.51
PMCID:
PMC2892322
8.
Gonzalo Fernandez-Fuente, Katherine A. Overmyer, Alexis J. Lawton, Ildiko Kasza, Samantha L. Shapiro, Patricia Gallego-Muñoz, Joshua J. Coon, John M. Denu, Caroline M. Alexander, Luigi Puglielli
Commun Biol. 2023; 6: 926. Published online 2023 Sep 9. doi: 10.1038/s42003-023-05311-1
PMCID:
PMC10492862
9.
Anna Santarsiero, Pietro Leccese, Paolo Convertini, Angela Padula, Paolo Abriola, Salvatore D'Angelo, Faustino Bisaccia, Vittoria Infantino
Mediators Inflamm. 2018; 2018: 1419352. Published online 2018 Jun 28. doi: 10.1155/2018/1419352
PMCID:
PMC6046129
10.
Eleonora Napoli, Flora Tassone, Sarah Wong, Kathleen Angkustsiri, Tony J. Simon, Gyu Song, Cecilia Giulivi
J Biol Chem. 2015 Sep 18; 290(38): 23240–23253. Published online 2015 Jul 28. doi: 10.1074/jbc.M115.672360
PMCID:
PMC4645608
11.
Benjamin Nota, Eduard A. Struys, Ana Pop, Erwin E. Jansen, Matilde R. Fernandez Ojeda, Warsha A. Kanhai, Martijn Kranendijk, Silvy J.M. van Dooren, Marianna R. Bevova, Erik A. Sistermans, Aggie W.M. Nieuwint, Magalie Barth, Tawfeg Ben-Omran, Georg F. Hoffmann, Pascale de Lonlay, Marie T. McDonald, Alf Meberg, Ania C. Muntau, Jean-Marc Nuoffer, Rossella Parini, Marie-Hélène Read, Axel Renneberg, René Santer, Thomas Strahleck, Emile van Schaftingen, Marjo S. van der Knaap, Cornelis Jakobs, Gajja S. Salomons
Am J Hum Genet. 2013 Apr 4; 92(4): 627–631. doi: 10.1016/j.ajhg.2013.03.009
PMCID:
PMC3617390
12.
Paolo Convertini, Alessio Menga, Generoso Andria, Iris Scala, Anna Santarsiero, Maria A. Castiglione Morelli, Vito Iacobazzi, Vittoria Infantino
Immunology. 2016 Dec; 149(4): 423–431. Published online 2016 Oct 3. doi: 10.1111/imm.12659
PMCID:
PMC5095497
13.
Amina Chaouch, Vito Porcelli, Daniel Cox, Shimon Edvardson, Pasquale Scarcia, Anna De Grassi, Ciro L. Pierri, Judith Cossins, Steven H. Laval, Helen Griffin, Juliane S. Müller, Teresinha Evangelista, Ana Töpf, Angela Abicht, Angela Huebner, Maja von der Hagen, Kate Bushby, Volker Straub, Rita Horvath, Orly Elpeleg, Jacqueline Palace, Jan Senderek, David Beeson, Luigi Palmieri, Hanns Lochmüller
J Neuromuscul Dis.
Published in final edited form as: J Neuromuscul Dis. 2014; 1(1): 75–90. doi: 10.3233/JND-140021
PMCID:
PMC4746751
14.
Weiming Xu, Lizhi Liu, David Hornby
Molecules. 2012 Oct; 17(10): 12086–12101. Published online 2012 Oct 15. doi: 10.3390/molecules171012086
PMCID:
PMC6268524
15.
Taner Dogan, Florian Gnad, Jocelyn Chan, Lilian Phu, Amy Young, Mark J. Chen, Sophia Doll, Matthew P. Stokes, Marcia Belvin, Lori S. Friedman, Donald S. Kirkpatrick, Klaus P. Hoeflich, Georgia Hatzivassiliou
J Biol Chem. 2017 Sep 1; 292(35): 14311–14324. Published online 2017 Jun 27. doi: 10.1074/jbc.M117.792754
PMCID:
PMC5582827
16.
Johannes Kettunen, Taru Tukiainen, Antti-Pekka Sarin, Alfredo Ortega-Alonso, Emmi Tikkanen, Leo-Pekka Lyytikäinen, Antti J Kangas, Pasi Soininen, Peter Würtz, Kaisa Silander, Danielle M Dick, Richard J Rose, Markku J Savolainen, Jorma Viikari, Mika Kähönen, Terho Lehtimäki, Kirsi H Pietiläinen, Michael Inouye, Mark I McCarthy, Antti Jula, Johan Eriksson, Olli T Raitakari, Veikko Salomaa, Jaakko Kaprio, Marjo-Riitta Järvelin, Leena Peltonen, Markus Perola, Nelson B Freimer, Mika Ala-Korpela, Aarno Palotie, Samuli Ripatti
Nat Genet.
Published in final edited form as: Nat Genet. 2012 Jan 29; 44(3): 269–276. Published online 2012 Jan 29. doi: 10.1038/ng.1073
PMCID:
PMC3605033
17.
Sylvie M. Noordermeer, Salomé Adam, Dheva Setiaputra, Marco Barazas, Stephen J. Pettitt, Alexanda K. Ling, Michele Olivieri, Alejandro Álvarez-Quilón, Nathalie Moatti, Michal Zimmermann, Stefano Annunziato, Dragomir B. Krastev, Feifei Song, Inger Brandsma, Jessica Frankum, Rachel Brough, Alana Sherker, Sébastien Landry, Rachel K. Szilard, Meagan M. Munro, Andrea McEwan, Théo Goullet de Rugy, Zhen-Yuan Lin, Traver Hart, Jason Moffat, Anne-Claude Gingras, Alberto Martin, Haico van Attikum, Jos Jonkers, Christopher J. Lord, Sven Rottenberg, Daniel Durocher
Nature.
Published in final edited form as: Nature. 2018 Aug; 560(7716): 117–121. Published online 2018 Jul 18. doi: 10.1038/s41586-018-0340-7
PMCID:
PMC6141009
18.
Michael Inouye, Samuli Ripatti, Johannes Kettunen, Leo-Pekka Lyytikäinen, Niku Oksala, Pirkka-Pekka Laurila, Antti J. Kangas, Pasi Soininen, Markku J. Savolainen, Jorma Viikari, Mika Kähönen, Markus Perola, Veikko Salomaa, Olli Raitakari, Terho Lehtimäki, Marja-Riitta Taskinen, Marjo-Riitta Järvelin, Mika Ala-Korpela, Aarno Palotie, Paul I. W. de Bakker
PLoS Genet. 2012 Aug; 8(8): e1002907. Published online 2012 Aug 16. doi: 10.1371/journal.pgen.1002907
PMCID:
PMC3420921
19.
Mansour Haidar, Bob Asselbergh, Elias Adriaenssens, Vicky De Winter, Jean-Pierre Timmermans, Michaela Auer-Grumbach, Manisha Juneja, Vincent Timmerman
Autophagy. 2019; 15(6): 1051–1068. Published online 2019 Jan 31. doi: 10.1080/15548627.2019.1569930
PMCID:
PMC6526868
20.
Si‐Han Chen, Gwendolyn M Jang, Ruth Hüttenhain, David E Gordon, Dan Du, Billy W Newton, Jeffrey R Johnson, Joseph Hiatt, Judd F Hultquist, Tasha L Johnson, Yi‐Liang Liu, Lily A Burton, Jordan Ye, Kurt M Reichermeier, Robert M Stroud, Alexander Marson, Jayanta Debnath, John D Gross, Nevan J Krogan
EMBO J. 2018 Sep 14; 37(18): e97508. Published online 2018 Aug 30. doi: 10.15252/embj.201797508
PMCID:
PMC6138441

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