Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies

por Stepien, Karolina M., Cufflin, Neve, Donald, Aimee, Jones, Simon, Church, Heather, Hargreaves, Iain P.
Publicado 2022

Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease

por Donald, Aimee, Cizer, Huseyin, Finnegan, Niamh, Collin-Histed, Tanya, Hughes, Derralynn A., Davies, Elin Haf
Publicado 2019

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

por Donald, Aimee, Björkvall, Cecilia Kämpe, Vellodi, Ashok, Cox, Timothy M., Hughes, Derralyn, Jones, Simon A., Wynn, Robert, Machaczka, Maciej
Publicado 2022

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

por Donald, Aimee, Tan, Chong Y., Chakrapani, Anupam, Hughes, Derralyn A., Sharma, Reena, Cole, Duncan, Bardins, Stanislav, Gorges, Martin, Jones, Simon A., Schneider, Erich
Publicado 2020

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

por Leija‐Salazar, Melissa, Sedlazeck, Fritz J., Toffoli, Marco, Mullin, Stephen, Mokretar, Katya, Athanasopoulou, Maria, Donald, Aimee, Sharma, Reena, Hughes, Derralynn, Schapira, Anthony H.V., Proukakis, Christos
Publicado 2019

In-depth phenotyping for clinical stratification of Gaucher disease

por D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M.
Publicado 2021

The definition of neuronopathic Gaucher disease

por Schiffmann, Raphael, Sevigny, Jeff, Rolfs, Arndt, Davies, Elin Haf, Goker‐Alpan, Ozlem, Abdelwahab, Magy, Vellodi, Ashok, Mengel, Eugen, Lukina, Elena, Yoo, Han‐Wook, Collin‐Histed, Tanya, Narita, Aya, Dinur, Tama, Revel‐Vilk, Shoshana, Arkadir, David, Szer, Jeff, Wajnrajch, Michael, Ramaswami, Uma, Sidransky, Ellen, Donald, Aimee, Zimran, Ari
Publicado 2020