The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

por Rodrigues, Miriam J., O’Grady, Gina L., Hammond-Tooke, Graeme, Kidd, Alexa, Love, Donald O., Baker, Ronelle K., Roxburgh, Richard H.
Publicado 2017

Cerebrospinal fluid cannot be used to distinguish inflammatory myelitis from congestive myelopathy due to spinal dural arteriovenous fistula: case series

por Vivekanandam, Vinojini, Li, Vivien, Wu, Teddy, Dowling, Richard, Roxburgh, Richard H, McGuiness, Ben J, Kilfoyle, Dean H, Manji, Hadi, Quaegebeur, Annelies, Thom, Maria, Robertson, Fergus, Thevathasan, Wesley, Evans, Andrew, Brew, Stefan, Mitchell, Peter
Publicado 2019

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

por Dashnow, Harriet, Pedersen, Brent S., Hiatt, Laurel, Brown, Joe, Beecroft, Sarah J., Ravenscroft, Gianina, LaCroix, Amy J., Lamont, Phillipa, Roxburgh, Richard H., Rodrigues, Miriam J., Davis, Mark, Mefford, Heather C., Laing, Nigel G., Quinlan, Aaron R.
Publicado 2022

RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics

por Scriba, Carolin K, Stevanovski, Igor, Chintalaphani, Sanjog R, Gamaarachchi, Hasindu, Ghaoui, Roula, Ghia, Darshan, Henderson, Robert D, Jordan, Nerissa, Winkel, Antony, Lamont, Phillipa J, Rodrigues, Miriam J, Roxburgh, Richard H, Weisburd, Ben, Laing, Nigel G, Deveson, Ira W, Davis, Mark R, Ravenscroft, Gianina
Publicado 2023

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias

por Traschütz, Andreas, Reich, Selina, Adarmes, Astrid D., Anheim, Mathieu, Ashrafi, Mahmoud Reza, Baets, Jonathan, Basak, A. Nazli, Bertini, Enrico, Brais, Bernard, Gagnon, Cynthia, Gburek-Augustat, Janina, Hanagasi, Hasmet A., Heinzmann, Anna, Horvath, Rita, de Jonghe, Peter, Kamm, Christoph, Klivenyi, Peter, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Renaud, Mathilde, Roxburgh, Richard H., Santorelli, Filippo M., Schirinzi, Tommaso, Sival, Deborah A., Timmann, Dagmar, Vielhaber, Stefan, Wallner, Michael, van de Warrenburg, Bart P., Zanni, Ginevra, Zuchner, Stephan, Klockgether, Thomas, Schüle, Rebecca, Schöls, Ludger, Synofzik, Matthis
Publicado 2021

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

por 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
Publicado 2020