Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?

por Fryer, Michael David, Kaye, Gerald, Tomlinson, Susan
Publicado 2015

A mitochondrial cytopathy presenting with persistent troponin elevation: case report

por Krishnan, Anish, Wu, Kathy, Girgis, Laila, Pamphlett, Roger, Tomlinson, Susan, Muthiah, Kavitha
Publicado 2023

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2

por Tomlinson, Susan E., Tan, S. Veronica, Burke, David, Labrum, Robyn W., Haworth, Andrea, Gibbons, Vaneesha S., Sweeney, Mary G., Griggs, Robert C., Kullmann, Dimitri M., Bostock, Hugh, Hanna, Michael G.
Publicado 2016

Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1

por Tomlinson, Susan Elizabeth, Rajakulendran, Sanjeev, Tan, Stella Veronica, Graves, Tracey Dawn, Bamiou, Doris-Eva, Labrum, Robyn W, Burke, David, Sue, Carolyn M, Giunti, Paola, Schorge, Stephanie, Kullmann, Dimitri M, Hanna, Michael G
Publicado 2013

A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing

por Grosz, Bianca R., Tisch, Stephen, Tchan, Michel C., Fung, Victor S. C., Darveniza, Paul, Fellner, Avi, Kurian, Manju A., McLean, Alison, Tomlinson, Susan E., Smyth, Renee, Devery, Sophie, Wu, Kathy H. C., Kennerson, Marina L., Kumar, Kishore R.
Publicado 2022