Fabry heterozygote mimicking multiple sclerosis

von Yau, Wai Yan, Fabis-Pedrini, Marzena J, Kermode, Allan G
Veröffentlicht in BMJ Case Rep (2017)

Spinocerebellar ataxia: an update

von Sullivan, Roisin, Yau, Wai Yan, O’Connor, Emer, Houlden, Henry
Veröffentlicht in J Neurol (2018)

Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?

von Yau, Wai Yan, Chen, Zhongbo, Sullivan, Roisin, Vandrovcova, Jana, Houlden, Henry
Veröffentlicht in Ann Clin Transl Neurol (2021)

GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor

von Yau, Wai Yan, O’Connor, Emer, Chen, Zhongbo, Vandrovcova, Jana, Wood, Nicholas W, Houlden, Henry
Veröffentlicht in Brain (2020)

RFC1-related ataxia is a mimic of early multiple system atrophy

von Sullivan, Roisin, Yau, Wai Yan, Chelban, Viorica, Rossi, Salvatore, Dominik, Natalia, O'Connor, Emer, Hardy, John, Wood, Nicholas, Cortese, Andrea, Houlden, Henry
Veröffentlicht in J Neurol Neurosurg Psychiatry (2021)

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

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

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

von Beecroft, Sarah J, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dyer, Zoe, Wu, Teddy Y, Mulroy, Eoin, Pelosi, Luciana, Rodrigues, Miriam, Taylor, Rachael, Mossman, Stuart, Leadbetter, Ruth, Cleland, James, Anderson, Tim, Ravenscroft, Gianina, Laing, Nigel G, Houlden, Henry, Reilly, Mary M, Roxburgh, Richard H
Veröffentlicht in Brain (2020)

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

von Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina
Veröffentlicht in Brain (2020)

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

von Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, Ilyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry
Veröffentlicht in Nat Genet (2019)

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

von Cortese, Andrea, Simone, Roberto, Sullivan, Roisin, Vandrovcova, Jana, Tariq, Huma, Yau, Wai Yan, Humphrey, Jack, Jaunmuktane, Zane, Sivakumar, Prasanth, Polke, James, llyas, Muhammad, Tribollet, Eloise, Tomaselli, Pedro J., Devigili, Grazia, Callegari, Ilaria, Versino, Maurizio, Salpietro, Vincenzo, Efthymiou, Stephanie, Kaski, Diego, Wood, Nick W., Andrade, Nadja S., Buglo, Elena, Rebelo, Adriana, Rossor, Alexander M., Bronstein, Adolfo, Fratta, Pietro, Marques, Wilson J., Züchner, Stephan, Reilly, Mary M., Houlden, Henry
Veröffentlicht in Nat Genet (2019)

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

von Cortese, Andrea, Tozza, Stefano, Yau, Wai Yan, Rossi, Salvatore, Beecroft, Sarah J, Jaunmuktane, Zane, Dyer, Zoe, Ravenscroft, Gianina, Lamont, Phillipa J, Mossman, Stuart, Chancellor, Andrew, Maisonobe, Thierry, Pereon, Yann, Cauquil, Cecile, Colnaghi, Silvia, Mallucci, Giulia, Curro, Riccardo, Tomaselli, Pedro J, Thomas-Black, Gilbert, Sullivan, Roisin, Efthymiou, Stephanie, Rossor, Alexander M, Laurá, Matilde, Pipis, Menelaos, Horga, Alejandro, Polke, James, Kaski, Diego, Horvath, Rita, Chinnery, Patrick F, Marques, Wilson, Tassorelli, Cristina, Devigili, Grazia, Leonardis, Lea, Wood, Nick W, Bronstein, Adolfo, Giunti, Paola, Züchner, Stephan, Stojkovic, Tanya, Laing, Nigel, Roxburgh, Richard H, Houlden, Henry, Reilly, Mary M
Veröffentlicht in Brain (2020)