The multicellular interplay of microglia in health and disease: lessons from leukodystrophy

por Berdowski, Woutje M., Sanderson, Leslie E., van Ham, Tjakko J.
Publicado 2021

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

por Sofou, Kalliopi, Meier, Kolja, Sanderson, Leslie E, Kaminski, Debora, Montoliu‐Gaya, Laia, Samuelsson, Emma, Blomqvist, Maria, Agholme, Lotta, Gärtner, Jutta, Mühlhausen, Chris, Darin, Niklas, Barakat, Tahsin Stefan, Schlotawa, Lars, van Ham, Tjakko, Asin Cayuela, Jorge, Sterky, Fredrik H
Publicado 2021

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

por Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan
Publicado 2023

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

por Sanderson, Leslie E, Lanko, Kristina, Alsagob, Maysoon, Almass, Rawan, Al-Ahmadi, Nada, Najafi, Maryam, Al-Muhaizea, Mohammad A, Alzaidan, Hamad, AlDhalaan, Hesham, Perenthaler, Elena, van der Linde, Herma C, Nikoncuk, Anita, Kühn, Nikolas A, Antony, Dinu, Owaidah, Tarek Mustafa, Raskin, Salmo, Vieira, Luana Gabriela Dalla Rosa, Mombach, Romulo, Ahangari, Najmeh, Silveira, Tainá Regina Damaceno, Ameziane, Najim, Rolfs, Arndt, Alharbi, Aljohara, Sabbagh, Raghda M, AlAhmadi, Khalid, Alawam, Bashayer, Ghebeh, Hazem, AlHargan, Aljouhra, Albader, Anoud A, Binhumaid, Faisal S, Goljan, Ewa, Monies, Dorota, Mustafa, Osama M, Aldosary, Mazhor, AlBakheet, Albandary, Alyounes, Banan, Almutairi, Faten, Al-Odaib, Ali, Aksoy, Durdane Bekar, Basak, A Nazli, Palvadeau, Robin, Trabzuni, Daniah, Rosenfeld, Jill A, Karimiani, Ehsan Ghayoor, Meyer, Brian F, Karakas, Bedri, Al-Mohanna, Futwan, Arold, Stefan T, Colak, Dilek, Maroofian, Reza, Houlden, Henry, Bertoli-Avella, Aida M, Schmidts, Miriam, Barakat, Tahsin Stefan, van Ham, Tjakko J, Kaya, Namik
Publicado 2021