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Pilotto, Federica; Diab, Rim; Al Qassab, Zahraa; Saxena, Smita (2024). Generation and enrichment of cerebellar GABAergic interneurons from human induced pluripotent stem cells and intracellular calcium measurements. STAR protocols, 5(2), p. 102936. Elsevier 10.1016/j.xpro.2024.102936
Ferini-Strambi, Luigi; Liguori, Claudio; Lucey, Brendan P; Mander, Bryce A; Spira, Adam P; Videnovic, Aleksandar; Baumann, Christian; Franco, Oscar; Fernandes, Mariana; Gnarra, Oriella; Krack, Paul; Manconi, Mauro; Noain, Daniela; Saxena, Smita; Kallweit, Ulf; Randerath, Winfried; Trenkwalder, C; Rosenzweig, Ivana; Iranzo, Alex; Bradicich, Matteo; ... (2024). Correction to: Role of sleep in neurodegeneration: the consensus report of the 5th Think Tank World Sleep Forum. Neurological sciences, 45(4), p. 1813. Springer 10.1007/s10072-024-07391-1
Ferini-Strambi, Luigi; Liguori, Claudio; Lucey, Brendan P; Mander, Bryce A; Spira, Adam P; Videnovic, Aleksandar; Baumann, Christian; Franco, Oscar; Fernandes, Mariana; Gnarra, Oriella; Krack, Paul; Manconi, Mauro; Noain, Daniela; Saxena, Smita; Kallweit, Ulf; Randerath, Winfried; Trenkwalder, C; Rosenzweig, Ivana; Iranzo, Alex and Bassetti, Claudio (2024). Role of sleep in neurodegeneration: the consensus report of the 5th Think Tank World Sleep Forum. Neurological sciences, 45(2), pp. 749-767. Springer 10.1007/s10072-023-07232-7
De Lorenzo, Francesca; Lüningschrör, Patrick; Nam, Jinhan; Beckett, Liam; Pilotto, Federica; Galli, Emilia; Lindholm, Päivi; Rüdt von Collenberg, Cora; Tii Mungwa, Simon; Jablonka, Sibylle; Kauder, Julia; Thau-Habermann, Nadine; Petri, Susanne; Lindholm, Dan; Saxena, Smita; Sendtner, Michael; Saarma, Mart; Voutilainen, Merja H (2023). CDNF rescues motor neurons in models of amyotrophic lateral sclerosis by targeting endoplasmic reticulum stress. Brain : a journal of neurology, 146(9), pp. 3783-3799. Oxford University Press 10.1093/brain/awad087
Pilotto, Federica; Douthwaite, Christopher; Diab, Rim; Ye, XiaoQian; Al Qassab, Zahraa; Tietje, Christoph; Mounassir, Meriem; Odriozola, Adolfo; Thapa, Aishwarya; Buijsen, Ronald A M; Lagache, Sophie; Uldry, Anne-Christine; Heller, Manfred; Müller, Stefan; van Roon-Mom, Willeke M C; Zuber, Benoît; Liebscher, Sabine; Saxena, Smita (2023). Early molecular layer interneuron hyperactivity triggers Purkinje neuron degeneration in SCA1. Neuron, 111(16), 2523-2543.e10. Elsevier 10.1016/j.neuron.2023.05.016
Diab, Rim; Pilotto, Federica; Saxena, Smita (2023). Autophagy and neurodegeneration: Unraveling the role of C9ORF72 in the regulation of autophagy and its relationship to ALS-FTD pathology. Frontiers in cellular neuroscience, 17(1086895), p. 1086895. Frontiers Research Foundation 10.3389/fncel.2023.1086895
Gomez Limia, Cintia; Baird, Megan; Schwartz, Maura; Saxena, Smita; Meyer, Kathrin; Wein, Nicolas (2022). Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders. Journal of personalized medicine, 12(12) MDPI 10.3390/jpm12121979
Pilotto, Federica; Schmitz, Alexander; Maharjan, Niran; Diab, Rim; Odriozola, Adolfo; Tripathi, Priyanka; Yamoah, Alfred; Scheidegger, Olivier; Oestmann, Angelina; Dennys, Cassandra N; Sinha Ray, Shrestha; Rodrigo, Rochelle; Kolb, Stephen; Aronica, Eleonora; Di Santo, Stefano; Widmer, Hans Rudolf; Charlet-Berguerand, Nicolas; Selvaraj, Bhuvaneish T; Chandran, Siddharthan; Meyer, Kathrin; ... (2022). PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD. Acta neuropathologica, 144(5), pp. 939-966. Springer-Verlag 10.1007/s00401-022-02494-5
Schmitz, Alexander; Pinheiro Marques, João; Oertig, Irina; Maharjan, Niran; Saxena, Smita (2021). Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD. Frontiers in cellular neuroscience, 15, p. 637548. Frontiers Research Foundation 10.3389/fncel.2021.637548
Nguyen, Lien; Laboissonniere, Lauren A; Guo, Shu; Pilotto, Federica; Scheidegger, Olivier; Oestmann, Angelina; Hammond, Jennetta W; Li, Herman; Hyysalo, Anu; Peltola, Roosa; Pattamatta, Amrutha; Zu, Tao; Voutilainen, Merja H; Gelbard, Harris A; Saxena, Smita; Ranum, Laura P W (2020). Survival and Motor Phenotypes in FVB C9-500 ALS/FTD BAC Transgenic Mice Reproduced by Multiple Labs. Neuron, 108(4), 784-796.e3. Cell Press 10.1016/j.neuron.2020.09.009
Facchin, Laura; Schöne, Cornelia; Mensen, Armand; Bandarabadi, Mojtaba; Pilotto, Federica; Saxena, Smita; Libourel, Paul Antoine; Bassetti, Claudio L. A.; Adamantidis, Antoine R. (2020). Slow waves promote sleep-dependent plasticity and functional recovery after stroke. Journal of neuroscience, 40(45), pp. 8637-8651. Society for Neuroscience 10.1523/JNEUROSCI.0373-20.2020
Maharjan, Niran; Saxena, Smita (2020). It Takes Two to Tango: DPRs in ALS and SCA36. Neuron, 107(2), pp. 202-204. Cell Press 10.1016/j.neuron.2020.06.025
Binda, Francesca; Pernaci, Carla; Saxena, Smita (2020). Cerebellar Development and Circuit Maturation: A Common Framework for Spinocerebellar Ataxias. Frontiers in neuroscience, 14(293), p. 293. Frontiers Research Foundation 10.3389/fnins.2020.00293
Saxena, Smita; Liebscher, Sabine (2020). Editorial: Circuit Mechanisms of Neurodegenerative Diseases. Frontiers in neuroscience, 14, p. 593329. Frontiers Research Foundation 10.3389/fnins.2020.593329
Reichenstein, Irit; Eitan, Chen; Diaz-Garcia, Sandra; Haim, Guy; Magen, Iddo; Siany, Aviad; Hoye, Mariah L; Rivkin, Natali; Olender, Tsviya; Toth, Beata; Ravid, Revital; Mandelbaum, Amitai D; Yanowski, Eran; Liang, Jing; Rymer, Jeffrey K; Levy, Rivka; Beck, Gilad; Ainbinder, Elena; Farhan, Sali M K; Lennox, Kimberly A; ... (2019). Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology. Science translational medicine, 11(523) American Association for the Advancement of Science 10.1126/scitranslmed.aav5264
Pilotto, Federica; Saxena, Smita (2018). Epidemiology of inherited cerebellar ataxias and challenges in clinical research. Clinical and translational neuroscience, 2(2), 2514183X1878525. Sage Publications 10.1177/2514183x18785258
Hetz, Claudio; Saxena Seidel, Smita (2017). ER stress and the unfolded protein response in neurodegeneration. Nature reviews. Neurology, 13(8), pp. 477-491. Nature Publishing Group 10.1038/nrneurol.2017.99
Maharjan, Niran; Künzli, Christina; Buthey, Kilian; Saxena, Smita (2017). C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress. Molecular neurobiology, 54(4), pp. 3062-3077. Springer 10.1007/s12035-016-9850-1
Stucki, David; Ruegsegger, Céline; Steiner, Silvio; Radecke, Julika; Murphy, MP; Zuber, Benoît; Saxena, Smita (2016). Mitochondrial impairments contribute to Spinocerebellar ataxia type 1 progression and can be ameliorated by the mitochondria-targeted antioxidant MitoQ. Free radical biology & medicine, 97, pp. 427-440. Elsevier 0.1016/j.freeradbiomed.2016.07.005
Ruegsegger, Céline; Saxena, Smita (2016). Proteostasis impairment in ALS. Brain research, 1648(Pt B), pp. 571-579. Elsevier 10.1016/j.brainres.2016.03.032
Maharjan, Niran; Saxena, Smita (2016). ER strikes again: Proteostasis Dysfunction In ALS. EMBO journal, 35(8), pp. 798-800. Nature Publishing Group 10.15252/embj.201694117
Ruegsegger, Céline; Maharjan, Niran; Goswami, Anand; Filézac de l’Etang, Audrey; Weis, Joachim; Troost, Dirk; Heller, Manfred; Gut, Heinz; Saxena, Smita (2016). Aberrant association of misfolded SOD1 with Na+/K+ATPase-α3 impairs its activity and contributes to motor neuron vulnerability in ALS. Acta neuropathologica, 131(3), pp. 427-451. Springer 10.1007/s00401-015-1510-4
Kudira, Ramesh; Malinka, Thomas; Kohler, Andreas; Dosch, Michel; Gomez de Agüero Tamargo, Maria de la Mercedes; Melin, Nicolas; Haegele, S; Starlinger, P; Maharjan, Niran; Saxena, Smita; Keogh, Adrian; Keogh-Stroka, Deborah M.; Candinas, Daniel; Beldi, Guido (2016). P2X1 regulated IL-22 secretion by innate lymphoid cells is required for efficient liver regeneration. Hepatology, 63(6), pp. 2004-2017. Wiley Interscience 10.1002/hep.28492
Ruegsegger, Céline; Stucki, David; Steiner, Silvio; Angliker, Nico; Radecke, Julika; Keller, Eva; Zuber, Benoît; Rüegg, Markus A; Saxena, Smita (2016). Impaired mTORC1-Dependent Expression of Homer-3 Influences SCA1 Pathophysiology. Neuron, 89(1), pp. 129-146. Cell Press 10.1016/j.neuron.2015.11.033
Neve, Anuja Vilas; Trüb, Judith; Saxena, Smita; Schümperli, Daniel (2016). Central and peripheral defects in motor units of the diaphragm of spinal muscular atrophy mice. Molecular and cellular neuroscience, 70, pp. 30-41. Elsevier 10.1016/j.mcn.2015.11.007
Filézac de L'Etang, Audrey; Maharjan, Niran; Cordeiro Braña, Marisa; Ruegsegger, Céline; Rehmann, Ruth; Goswami, Anand; Roos, Andreas; Troost, Dirk; Schneider, Bernard L; Weis, Joachim; Saxena, Smita (2015). Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS. Nature neuroscience, 18(2), pp. 227-238. Nature America 10.1038/nn.3903
Huo, Qing; Kayikci, Melis; Odermatt, Philipp; Meyer, Kathrin; Michels, Olivia; Saxena, Smita; Ule, Jernej; Schümperli, Daniel (2014). Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: evidence for involvement of splicing regulatory proteins. RNA biology, 11(11), pp. 1430-1446. Landes Bioscience 10.1080/15476286.2014.996494
Saxena, Smita; Roselli, Francesco; Singh, Katyayani; Leptien, Kerstin; Julien, Jean-Pierre; Gros-Louis, Francois; Caroni, Pico (2013). Neuroprotection through excitability and mTOR required in ALS motoneurons to delay disease and extend survival. Neuron, 80(1), pp. 80-96. Cell Press 10.1016/j.neuron.2013.07.027
Saxena, Smita; Caroni, Pico (2011). Selective neuronal vulnerability in neurodegenerative diseases: from stressor thresholds to degeneration. Neuron, 71(1), pp. 35-48. Cambridge, Mass.: Cell Press 10.1016/j.neuron.2011.06.031
Kudira, Ramesh; Malinka, Thomas; Kohler, Andreas; Dosch, Michel; Gomez de Agüero Tamargo, Maria de la Mercedes; Melin, Nicolas; Haegele, S; Starlinger, P; Maharjan, Niran; Saxena, Smita; Keogh, Adrian; Keogh-Stroka, Deborah M.; Candinas, Daniel; Beldi, Guido (2016). P2X1 regulated IL-22 secretion by innate lymphoid cells is required for efficient liver regeneration (Unpublished). In: Keystone Symposium. Vancouver. 29.01.2016.
Odriozola, Adolfo; Llodrá, Jaime; Radecke, Julika; Ruegsegger, Céline; Tschanz, Stefan; Saxena, Smita; Rohr, Stephan; Zuber, Benoît (2017). High contrast staining for serial block face scanning electron microscopy without uranyl acetate (bioRxiv). Cold Spring Harbor Laboratory 10.1101/207472
