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Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration Liu, Wenfei; Geard, Amy F.; Massaro, Giulia; Hughes, Michael P.; Aristorena, Mikel; Coombe-Tennant, Oliver; Xu, Liangyuan; Semenyuk, Olha; Bush, Reuben; Te Vruchte, Danielle; Priestman, David; Laban, Rhiannon; Veleva, Elena; Heslegrave, Amanda J.; Zetterberg, Henrik; Platt, Frances M.; Smith, Alexander J.; Mole, Sara E.; Ali, Robin R.; Rahim, Ahad A. Share Save
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A Phase 1, Randomized, Open-Label, Parallel Group Study to Evaluate the Relative Bioavailability and Safety of Subcutaneous Bepirovirsen when Delivered from a Vial or Prefilled Syringe Fitted with a Safety Syringe Device in Healthy Adult Participants Youssef, Amir S.; Shah, Poonam; Hu, Maxwell; Plein, Helene; Roy, Abhishek; Sharma, Ravi; Mole, Sarah; Blazejczyk, Magdalena; Cross, Wendy; Spears, Brian; Pak, Samuel; Kaur, Rejbinder; Elston, Robert; Theodore, Dickens; Hezareh, Marjan; Nader, Ahmed Share Save
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Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom Mole, Sara E.; Gissen, Paul; Nordstrom, Shannon; Wait, Suzanne; Allen, Louise; Antonini, Mathilda; Brownnutt, Liz; Brown, Richard; Cole, Barbara; Gibbon, Frances; Henderson, Robert H.; Kenrick, Sarah; Sisic, Zlatko; Thompson, Bob; Nightingale, Joanna Share Save
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The Batten disease protein CLN3 is important for stress granules dynamics and translational activity Relton, Emily L.; Roth, Nicolas J.; Yasa, Seda; Kaleem, Abuzar; Hermey, Guido; Minnis, Christopher J.; Mole, Sara E.; Shelkovnikova, Tatyana; Lefrancois, Stephane; McCormick, Peter J.; Locker, Nicolas Share Save
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis Lopez-Fabuel, Irene; Garcia-Macia, Marina; Buondelmonte, Costantina; Burmistrova, Olga; Bonora, Nicolo; Alonso-Batan, Paula; Morant-Ferrando, Brenda; Vicente-Gutierrez, Carlos; Jimenez-Blasco, Daniel; Quintana-Cabrera, Ruben; Fernandez, Emilio; Llop, Jordi; Ramos-Cabrer, Pedro; Sharaireh, Aseel; Guevara-Ferrer, Marta; Fitzpatrick, Lorna; Thompton, Christopher D.; McKay, Tristan R.; Storch, Stephan; Medina, Diego L.; Mole, Sara E.; Fedichev, Peter O.; Almeida, Angeles; Bolanos, Juan P. Share Save
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype Soldati, Chiara; Lopez-Fabuel, Irene; Wanderlingh, Luca G.; Garcia-Macia, Marina; Monfregola, Jlenia; Esposito, Alessandra; Napolitano, Gennaro; Guevara-Ferrer, Marta; Scotto Rosato, Anna; Krogsaeter, Einar K.; Paquet, Dominik; Grimm, Christian M.; Montefusco, Sandro; Braulke, Thomas; Storch, Stephan; Mole, Sara E.; De Matteis, Maria A.; Ballabio, Andrea; Sampaio, Julio L.; McKay, Tristan; Johannes, Ludger; Bolanos, Juan P.; Medina, Diego L. Share Save
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Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients Mole, Sara E.; Schulz, Angela; Badoe, Eben; Berkovic, Samuel F.; de Los Reyes, Emily C.; Dulz, Simon; Gissen, Paul; Guelbert, Norberto; Lourenco, Charles M.; Mason, Heather L.; Mink, Jonathan W.; Murphy, Noreen; Nickel, Miriam; Olaya, Joffre E.; Scarpa, Maurizio; Scheffer, Ingrid E.; Simonati, Alessandro; Specchio, Nicola; Von Loebbecke, Ina; Wang, Raymond Y.; Williams, Ruth E. Share Save
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Mitochondrial ROS contribute to neuronal ceroid lipofuscinosis pathogenesis Garcia-Macia, Marina; Lopez-Fabuel, Irene; Buondelmonte, Constantina; Bonora, Nicolo; Morant-Ferrando, Brenda; Alonso-Batan, Paula; Vicente-Gutierrez, Carlos; Jimenez-Blasco, Daniel; Quintana-Cabrera, Ruben; Fernandez, Emilio; Storch, Stephan; Mole, Sara E.; Almeida, Angeles; Bolanos, Juan P. Share Save
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Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease Holthaus, Sophia-Martha Kleine; Herranz-Martin, Saul; Massaro, Giulia; Aristorena, Mikel; Hoke, Justin; Hughes, Michael; Maswood, Ryea; Semenyuk, Olha; Basche, Mark; Shah, Amna Z.; Klaska, Izabela P.; Smith, Alexander J.; Mole, Sara E.; Rahim, Ahad; Ali, Robin R. Share Save
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Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features Berkovic, Samuel F.; Oliver, Karen L.; Canafoglia, Laura; Krieger, Penina; Damiano, John A.; Hildebrand, Michael S.; Morbin, Michela; Vears, Danya F.; Sofia, Vito; Giuliano, Loretta; Garavaglia, Barbara; Simonati, Alessandro; Santorelli, Filippo M.; Gambardella, Antonio; Labate, Angelo; Belcastro, Vincenzo; Castellotti, Barbara; Ozkara, Cigdem; Zeman, Adam; Rankin, Julia; Mole, Sara E.; Aguglia, Umberto; Farrell, Michael; Rajagopalan, Sulekha; McDougall, Alan; Brammah, Susan; Andermann, Frederick; Andermann, Eva; Dahl, Hans-Henrik M.; Franceschetti, Silvana; Carpenter, Stirling Share Save
Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells Holthaus, Sophia-Martha Kleine; Ribeiro, Joana; Abelleira-Hervas, Laura; Pearson, Rachael A.; Duran, Yanai; Georgiadis, Anastasios; Sampson, Robert D.; Rizzi, Matteo; Hoke, Justin; Maswood, Ryea; Azam, Selina; Luhmann, Ulrich F. O.; Smith, Alexander J.; Mole, Sara E.; Ali, Robin R. Share Save
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