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

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

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

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

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

Autor 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
Vydáno v Int J Mol Sci (2021)

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

Autor 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
Vydáno 2010

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

Autor 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.
Vydáno v Brain (2016)

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

Autor 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
Vydáno v J Neurol Neurosurg Psychiatry (2013)

The clinical and genetic heterogeneity of paroxysmal dyskinesias

Autor 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
Vydáno v Brain (2015)

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Autor 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
Vydáno v Front Cell Neurosci (2018)

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

Autor 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.
Vydáno 2011

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Autor 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
Vydáno v Mov Disord Clin Pract (2017)