The collective burden of childhood dementia: a scoping review

por Elvidge, Kristina L, Christodoulou, John, Farrar, Michelle A, Tilden, Dominic, Maack, Megan, Valeri, Madeline, Ellis, Magda, Smith, Nicholas J C
Publicado 2023

Sanfilippo syndrome: consensus guidelines for clinical care

por 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
Publicado 2022

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

por 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
Publicado 2022

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

por 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
Publicado 2021