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Pilot Study of Fingolimod Treatment in Neuronal Ceroid Lipofuscinosis Type 1 Messina, Martina; Whiteley, Rebecca; Gan, Chin; Heywood, Wendy E.; Heslegrave, Amanda J.; Keating, Megan; Taylor, Sophie; Footitt, Emma; Mills, Philippa; Hemingway, Cheryl; Gissen, Paul; Vecchiato, Katy Share Save
From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series Diaz-Moreno, U.; Brothwell, S. L. C.; Darling, A.; Baide-Mairena, H.; Lemonde, H.; Turon-Vinas, E.; Korenev, S.; Ibanez, S.; Beesley, C.; Gissen, P.; Parida, A.; Santra, S.; Wassmer, E.; Batzios, S. Share Save
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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Long-term findings of N-acetyl-L-leucine for Niemann-Pick disease type C Bremova-Ertl, Tatiana; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Mengel, Eugen; Arash-Kaps, Laila; Mendoz, Grecia; Park, Julien H.; Ramaswami, Uma; Martakis, Kyriakos; Brands, Marion Share Save
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders Wahedi, Azizia; Sudhakar, Sniya; Lam, Amanda; Ciancio, Jose Ignacio Rodriguez; Mills, Philippa; Gissen, Paul; Gardham, Alice; Kapadia, Jogesh; Hassell, Jane; Heales, Simon; Rahman, Shamima Share Save
Macrophage Inhibitor Clodronate Enhances Liver Transduction of Lentiviral but Not Adeno-Associated Viral Vectors or mRNA Lipid Nanoparticles in Neonatal and Juvenile Mice Touramanidou, Loukia; Gurung, Sonam; Cozmescu, Claudiu A.; Perocheau, Dany; Moulding, Dale; Finn, Patrick F.; Frassetto, Andrea; Waddington, Simon N.; Gissen, Paul; Baruteau, Julien Share Save
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy Eichler, Florian; Duncan, Christine N.; Musolino, Patricia L.; Lund, Troy C.; Gupta, Ashish O.; De Oliveira, Satiro; Thrasher, Adrian J.; Aubourg, Patrick; Kuehl, Joern-Sven; Loes, Daniel J.; Amartino, Hernan; Smith, Nicholas; Fernandes, Juliana Folloni; Sevin, Caroline; Sankar, Raman; Hussain, Shaun A.; Gissen, Paul; Dalle, Jean-Hugues; Platzbecker, Uwe; Downey, Gerald F.; McNeil, Elizabeth; Demopoulos, Laura; Dietz, Andrew C.; Thakar, Himal L.; Orchard, Paul J.; Williams, David A. Share Save
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Enzyme Replacement Therapy for CLN2 Disease: MRI Volumetry Shows Significantly Slower Volume Loss Compared with a Natural History Cohort Gaur, Pritika; Gissen, Paul; Biswas, Asthik; Mankad, Kshitij; Sudhakar, Sniya; D'Arco, Felice; Schulz, Angela; Fiehler, Jens; Sedlacik, Jan; Lobel, Ulrike Share Save
Trial of N-Acetyl-L-Leucine in Niemann-Pick Disease Type C Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H.; Reichmannova, Stella; Schneider, Susanne A.; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos Share Save
RGX-381: Interim results from the first-in-human clinical trial of an investigational gene therapy for the treatment of ocular manifestations of CLN2 Batten disease Ohnsman, Christina; Bailey, Alexander M.; Huang, Wei; Buss, Nicholas; Kim, Kwi Hye; Chan, Gary; Burke, Jenna; Phillips, Dawn; Higgins, Mikayla; Henderson, Robert H.; Gissen, Paul; Schulz, Angela; Pakola, Stephen; Falabella, Paulo Share Save
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Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C Fields, Taylor; Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Kolnikova, Miriam; Arash-Karps, Laila; Mengel, Eugen; Park, Julien; Reichmannova, Stella; Schneider, Susanne; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos Share Save
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria Gurung, Sonam; Timmermand, Oskar Vilhelmsson; Perocheau, Dany; Gil-Martinez, Ana Luisa; Minnion, Magdalena; Touramanidou, Loukia; Fang, Sherry; Messina, Martina; Khalil, Youssef; Spiewak, Justyna; Barber, Abigail R.; Edwards, Richard S.; Pinto, Patricia Lipari; Finn, Patrick F.; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G. V.; Ridout, Deborah; Heywood, Wendy; Hargreaves, Ian; Heales, Simon; Mills, Philippa B.; Waddington, Simon N.; Gissen, Paul; Eaton, Simon; Ryten, Mina; Feelisch, Martin; Frassetto, Andrea; Witney, Timothy H.; Baruteau, Julien Share Save
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