PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

מאת Nethisinghe, Suran, Pigazzini, Maria Lucia, Pemble, Sally, Sweeney, Mary G., Labrum, Robyn, Manso, Katarina, Moore, David, Warner, Jon, Davis, Mary B., Giunti, Paola
הוצא לאור ב Front Cell Neurosci (2018)

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia

מאת Yau, Wai Yan, Raposo, Mafalda, Bettencourt, Conceição, Labrum, Robyn, Vasconcelos, João, Parkinson, Michael H, Giunti, Paola, Wood, Nicholas W, Lima, Manuela, Houlden, Henry
הוצא לאור ב Brain (2020)

Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

מאת Nethisinghe, Suran, Kesavan, Maheswaran, Ging, Heather, Labrum, Robyn, Polke, James M., Islam, Saiful, Garcia-Moreno, Hector, Callaghan, Martina F., Cavalcanti, Francesca, Pook, Mark A., Giunti, Paola
הוצא לאור ב Int J Mol Sci (2021)

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

מאת Rajakulendran, Sanjeev, Graves, Tracey D, Labrum, Robyn W, Kotzadimitriou, Dimitrios, Eunson, Louise, Davis, Mary B, Davies, Rosalyn, Wood, Nicholas W, Kullmann, Dimitri M, Hanna, Michael G, Schorge, Stephanie
יצא לאור 2010

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

מאת 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.
הוצא לאור ב Brain (2016)

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

מאת 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
הוצא לאור ב J Neurol Neurosurg Psychiatry (2013)

The clinical and genetic heterogeneity of paroxysmal dyskinesias

מאת Gardiner, Alice R., Jaffer, Fatima, Dale, Russell C., Labrum, Robyn, Erro, Roberto, Meyer, Esther, Xiromerisiou, Georgia, Stamelou, Maria, Walker, Matthew, Kullmann, Dimitri, Warner, Tom, Jarman, Paul, Hanna, Mike, Kurian, Manju A., Bhatia, Kailash P., Houlden, Henry
הוצא לאור ב Brain (2015)

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

מאת Nethisinghe, Suran, Lim, Wei N., Ging, Heather, Zeitlberger, Anna, Abeti, Rosella, Pemble, Sally, Sweeney, Mary G., Labrum, Robyn, Cervera, Charisse, Houlden, Henry, Rosser, Elisabeth, Limousin, Patricia, Kennedy, Angus, Lunn, Michael P., Bhatia, Kailash P., Wood, Nicholas W., Hardy, John, Polke, James M., Veneziano, Liana, Brusco, Alfredo, Davis, Mary B., Giunti, Paola
הוצא לאור ב Front Cell Neurosci (2018)

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

מאת Catarino, Claudia B., Liu, Joan Y.W., Liagkouras, Ioannis, Gibbons, Vaneesha S., Labrum, Robyn W., Ellis, Rachael, Woodward, Cathy, Davis, Mary B., Smith, Shelagh J., Cross, J. Helen, Appleton, Richard E., Yendle, Simone C., McMahon, Jacinta M., Bellows, Susannah T., Jacques, Thomas S., Zuberi, Sameer M., Koepp, Matthias J., Martinian, Lillian, Scheffer, Ingrid E., Thom, Maria, Sisodiya, Sanjay M.
יצא לאור 2011

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

מאת Diallo, Alhassane, Jacobi, Heike, Schmitz‐Hübsch, Tanja, Cook, Arron, Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sobanska, Anna, Sulek, Anna, Schöls, Ludger, Hengel, Holger, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P., Timmann, Dagmar, Boesch, Sylvia, Pandolfo, Massimo, Schulz, Jörg B., Bauer, Peter, Giunti, Paola, Baliko, Laszlo, Parkinson, Michael H., Kang, Jun‐Suk, Klockgether, Thomas, Tezenas du Montcel, Sophie
הוצא לאור ב Mov Disord Clin Pract (2017)