Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid

por Messina, Martina, Manea, Emanuela, Cullup, Thomas, Tuschl, Karin, Batzios, Spyros
Publicado 2022

Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

por Stamelou, Maria, Tuschl, Karin, Chong, W K, Burroughs, Andrew K, Mills, Philippa B, Bhatia, Kailash P, Clayton, Peter T
Publicado 2012

Imaging of changes in copper trafficking and redistribution in a mouse model of Niemann-Pick C disease using positron emission tomography

por Baguña Torres, Julia, Yu, Zilin, Bordoloi, Jayanta, Sunassee, Kavitha, Smith, David, Smith, Claire, Chen, Oscar, Purchase, Rupert, Tuschl, Karin, Spencer, John, Platt, Frances, Blower, Philip J.
Publicado 2019

TLR7 ligation augments hematopoiesis in Rps14 (uS11) deficiency via paradoxical suppression of inflammatory signaling

por Peña, Oscar A., Lubin, Alexandra, Hockings, Catherine, Rowell, Jasmine, Jung, Youngrock, Hoade, Yvette, Dace, Phoebe, Valdivia, Leonardo E., Tuschl, Karin, Böiers, Charlotta, Virgilio, Maria C., Richardson, Simon, Payne, Elspeth M.
Publicado 2021

Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish

por Tuschl, Karin, White, Richard J., Trivedi, Chintan, Valdivia, Leonardo E., Niklaus, Stephanie, Bianco, Isaac H., Dadswell, Chris, González-Méndez, Ramón, Sealy, Ian M., Neuhauss, Stephan C. F., Houart, Corinne, Rihel, Jason, Wilson, Stephen W., Busch-Nentwich, Elisabeth M.
Publicado 2022

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

por Tuschl, Karin, Clayton, Peter T., Gospe, Sidney M., Gulab, Shamshad, Ibrahim, Shahnaz, Singhi, Pratibha, Aulakh, Roosy, Ribeiro, Reinaldo T., Barsottini, Orlando G., Zaki, Maha S., Del Rosario, Maria Luz, Dyack, Sarah, Price, Victoria, Rideout, Andrea, Gordon, Kevin, Wevers, Ron A., Chong, W.K. ‘‘Kling’’, Mills, Philippa B.
Publicado 2016

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

por Mills, Philippa B., Footitt, Emma J., Mills, Kevin A., Tuschl, Karin, Aylett, Sarah, Varadkar, Sophia, Hemingway, Cheryl, Marlow, Neil, Rennie, Janet, Baxter, Peter, Dulac, Olivier, Nabbout, Rima, Craigen, William J., Schmitt, Bernhard, Feillet, François, Christensen, Ernst, De Lonlay, Pascale, Pike, Mike G., Hughes, M. Imelda, Struys, Eduard A., Jakobs, Cornelis, Zuberi, Sameer M., Clayton, Peter T.
Publicado 2010

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

por Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E., Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y., Simpson, Michael A., Chong, W. K., Jacques, Thomas S., Woltjer, Randy L., Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M., Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R., Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A. M., Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S., Yoganathan, Sangeetha, Dale, Russell C., Thomas, Maya, Rihel, Jason, Bodamer, Olaf A., Enns, Caroline A., Hayflick, Susan J., Clayton, Peter T., Mills, Philippa B., Kurian, Manju A., Wilson, Stephen W.
Publicado 2016