Sanfilippo syndrome: consensus guidelines for clinical care von Muschol, Nicole, Giugliani, Roberto, Jones, Simon A, Muenzer, Joseph, Smith, Nicholas J. C, Whitley, Chester B, Donnell, Megan, Drake, Elise, Elvidge, Kristina, Melton, Lisa, O'Neill, Cara

Volltext

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy von Eichler, Florian, Duncan, Christine, Musolino, Patricia L, Orchard, Paul J, De Oliveira, Satiro, Thrasher, Adrian J, Armant, Myriam, Dansereau, Colleen, Lund, Troy C, Miller, Weston P, Raymond, Gerald V, Sankar, Raman, Shah, Ami J, Sevin, Caroline, Gaspar, H. Bobby, Gissen, Paul, Amartino, Hernan, Bratkovic, Drago, Smith, Nicholas J.C, Paker, Asif M, Shamir, Esther, O’Meara, Tara, Davidson, David, Aubourg, Patrick, Williams, David A

Volltext

Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity von Pace, Rishika A., Peat, Rachel A., Baker, Naomi L., Zamurs, Laura, Mörgelin, Matthias, Irving, Melita, Adams, Naomi E., Bateman, John F., Mowat, David, Smith, Nicholas J. C., Lamont, Phillipa J., Moore, Steven A., Mathews, Katherine D., North, Kathryn N., Lamandé, Shireen R.

Volltext

Quantification of plasma sulfatides by mass spectrometry: Utility for metachromatic leukodystrophy von Saville, Jennifer T., Smith, Nicholas J.C., Fletcher, Janice M., Fuller, Maria

Volltext

Reduced cerebral vascularization in experimental neuronopathic Gaucher disease von Smith, Nicholas JC, Fuller, Maria, Saville, Jennifer T, Cox, Timothy M

Volltext

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations von Sue, Carolyn M., Balasubramaniam, Shanti, Bratkovic, Drago, Bonifant, Catherine, Christodoulou, John, Coman, David, Crawley, Karen, Edema‐Hildebrand, Fabienne, Ellaway, Carolyn, Ghaoui, Roula, Kava, Maina, Kearns, Lisa S., Lee, Joy, Liang, Christina, Mackey, David A., Murray, Sean, Needham, Merrilee, Rius, Rocio, Russell, Jacqui, Smith, Nicholas J.C., Thyagarajan, Dominic, Wools, Christine

Volltext

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder von Kumar, Raman, Corbett, Mark A., Smith, Nicholas J. C., Hock, Daniella H., Kikhtyak, Zoya, Semcesen, Liana N., Morimoto, Atsushi, Lee, Sangmoon, Stroud, David A., Gleeson, Joseph G., Haan, Eric A., Gecz, Jozef

Volltext

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder von Kumar, Raman, Corbett, Mark A, Smith, Nicholas J C, Jolly, Lachlan A, Tan, Chuan, Keating, Damien J, Duffield, Michael D, Utsumi, Toshihiko, Moriya, Koko, Smith, Katherine R, Hoischen, Alexander, Abbott, Kim, Harbord, Michael G, Compton, Alison G, Woenig, Joshua A, Arts, Peer, Kwint, Michael, Wieskamp, Nienke, Gijsen, Sabine, Veltman, Joris A, Bahlo, Melanie, Gleeson, Joseph G, Haan, Eric, Gecz, Jozef

Volltext

The collective burden of childhood dementia: a scoping review von Elvidge, Kristina L, Christodoulou, John, Farrar, Michelle A, Tilden, Dominic, Maack, Megan, Valeri, Madeline, Ellis, Magda, Smith, Nicholas J C

Volltext

Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients von Machaczka, Maciej, Paucar, Martin, Björkvall, Cecilia Kämpe, Smith, Nicholas J.C., Cox, Timothy M, Forsgren, Lars, Svenningsson, Per

Volltext

Childhood dementia: the collective impact and opportunities for intervention von Elvidge, Kristina L, Christodoulou, John, Farrar, Michelle A, Tilden, Dominic, Maack, Megan, Valeri, Madeline, Ellis, Magda, Smith, Nicholas JC

Volltext

RESPONSE TO ZHANG ETAL von Smith, Nicholas JC, Pereira, John, Grattan-Smith, Padraic

Volltext

RESPONSE TO ZHANG ET AL von Smith, Nicholas JC, Pereira, John, Grattan-Smith, Padraic

Volltext

GREENHOUSE GAS AND AMMONIA EMISSION MITIGATION PRIORITIES FOR UK POLICY TARGETS von BUCKINGHAM, Sarah, TOPP, Cairistiona F. E., SMITH, Pete, EORY, Vera, CHADWICK, David R., BAXTER, Christina K., CLOY, Joanna M., CONNOLLY, Shaun, COOLEDGE, Emily C., COWAN, Nicholas J., DREWER, Julia, DUFFY, Colm, FOX, Naomi J., JEBARI, Asma, JENKINS, Becky, KROL, Dominika J., MARSDEN, Karina A., MCAULIFFE, Graham A., MORRISON, Steven J., O'FLAHERTY, Vincent, RAMSEY, Rachael, RICHARDS, Karl G., ROEHE, Rainer, SMITH, Jo, SMITH, Kate, TAKAHASHI, Taro, THORMAN, Rachel E., WILLIAMS, John, WILTSHIRE, Jeremy, REES, Robert M.

Volltext

Sustainable reference points for multispecies coral reef fisheries von Zamborain-Mason, Jessica, Cinner, Joshua E., MacNeil, M. Aaron, Graham, Nicholas A. J., Hoey, Andrew S., Beger, Maria, Brooks, Andrew J., Booth, David J., Edgar, Graham J., Feary, David A., Ferse, Sebastian C. A., Friedlander, Alan M., Gough, Charlotte L. A., Green, Alison L., Mouillot, David, Polunin, Nicholas V. C., Stuart-Smith, Rick D., Wantiez, Laurent, Williams, Ivor D., Wilson, Shaun K., Connolly, Sean R.

Volltext

Patterns of genome evolution that have accompanied host adaptation in Salmonella von Langridge, Gemma C, Fookes, Maria, Connor, Thomas R, Feltwell, Theresa, Feasey, Nicholas, Parsons, Bryony N, Seth-Smith, Helena M B, Barquist, Lars, Stedman, Anna, Humphrey, Tom, Wigley, Paul, Peters, Sarah E, Maskell, Duncan J, Corander, Jukka, Chabalgoity, Jose A, Barrow, Paul, Parkhill, Julian, Dougan, Gordon, Thomson, Nicholas R

Volltext

Anti-SARS-CoV-2 antibody responses are attenuated in patients with IBD treated with infliximab von Kennedy, Nicholas A, Goodhand, James R, Bewshea, Claire, Nice, Rachel, Chee, Desmond, Lin, Simeng, Chanchlani, Neil, Butterworth, Jeffrey, Cooney, Rachel, Croft, Nicholas M, Hart, Ailsa L, Irving, Peter M, Kok, Klaartje B, Lamb, Christopher A, Limdi, Jimmy K, Macdonald, Jonathan, McGovern, Dermot PB, Mehta, Shameer J, Murray, Charles D, Patel, Kamal V, Pollok, Richard CG, Raine, Timothy, Russell, Richard K, Selinger, Christian P, Smith, Philip J, Bowden, Jack, McDonald, Timothy J, Lees, Charlie W, Sebastian, Shaji, Powell, Nicholas, Ahmad, Tariq

Volltext

The coding of valence and identity in the mammalian taste system von Wang, Li, Gillis-Smith, Sarah, Peng, Yueqing, Zhang, Juen, Chen, Xiaoke, Salzman, C. Daniel, Ryba, Nicholas J. P., Zuker, Charles S.

Volltext

Neural stem cells traffic functional mitochondria via extracellular vesicles von Peruzzotti-Jametti, Luca, Bernstock, Joshua D., Willis, Cory M., Manferrari, Giulia, Rogall, Rebecca, Fernandez-Vizarra, Erika, Williamson, James C., Braga, Alice, van den Bosch, Aletta, Leonardi, Tommaso, Krzak, Grzegorz, Kittel, Agnes, Beninca, Cristiane, Vicario, Nunzio, Tan, Sisareuth, Bastos, Carlos, Bicci, Iacopo, Iraci, Nunzio, Smith, Jayden A., Peacock, Ben, Muller, Karin H., Lehner, Paul J., Buzas, Edit Iren, Faria, Nuno, Zeviani, Massimo, Frezza, Christian, Brisson, Alain, Matheson, Nicholas J., Viscomi, Carlo, Pluchino, Stefano

Volltext

Assessing causality in the association between child adiposity and physical activity levels: a Mendelian randomization analysis von Richmond, Rebecca C, Davey Smith, George, Ness, Andy R, den Hoed, Marcel, McMahon, George, Timpson, Nicholas J

Volltext