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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
By:
- Currò, Riccardo;
- Dominik, Natalia;
- Facchini, Stefano;
- Vegezzi, Elisa;
- Sullivan, Roisin;
- Deforie, Valentina Galassi;
- Fernández-Eulate, Gorka;
- Traschütz, Andreas;
- Rossi, Salvatore;
- Garibaldi, Matteo;
- Kwarciany, Mariusz;
- Taroni, Franco;
- Brusco, Alfredo;
- Good, Jean-Marc;
- Cavalcanti, Francesca;
- Hammans, Simon;
- Ravenscroft, Gianina;
- Roxburgh, Richard H;
- group, RFC1 repeat expansion study;
- Schnekenberg, Ricardo Parolin
Publication type:
Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Published in:
2020
By:
- 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
Publication type:
journal article
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
Published in:
2020
By:
- 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
Publication type:
journal article
Redefining the Multiple Sclerosis Severity Score (MSSS): The effect of sex and onset phenotype.
Published in:
Multiple Sclerosis Journal, 2020, v. 26, n. 13, p. 1765, doi. 10.1177/1352458519881994
By:
- Zhou, Yuan;
- Claflin, Suzi B;
- Stankovich, Jim;
- van der Mei, Ingrid;
- Simpson Jr, Steve;
- Roxburgh, Richard H;
- Kalincik, Tomas;
- Blizzard, Leigh;
- Lugaresi, Alessandra;
- Alroughani, Raed;
- Sajedi, Seyed Aidin;
- Butzkueven, Helmut;
- Pucci, Eugenio;
- Spitaleri, Daniele LA;
- Granella, Franco;
- Cristiano, Edgardo;
- Yamout, Bassem;
- Hughes, Stella;
- Gouider, Riadh;
- Sánchez Menoyo, José Luis
Publication type:
Article
Nitrous oxide myelopathy: a case series.
Published in:
New Zealand Medical Journal, 2024, v. 137, n. 1599, p. 49, doi. 10.26635/6965.6477
By:
- Patel, Shilpan G.;
- Zhang, Tony;
- Liem, Bernard;
- Sundram, Frederick;
- Roxburgh, Richard H.;
- Barber, P. Alan
Publication type:
Article
Successful cerebral intravascular thrombectomy stops the heart stopping.
Published in:
Internal Medicine Journal, 2022, v. 52, n. 8, p. 1419, doi. 10.1111/imj.15871
By:
- Yong, Vivien T. Y.;
- Caldwell, James;
- Ershad, Shakiya;
- Roxburgh, Richard H.
Publication type:
Article
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia ‘CANVAS’ syndrome.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. 2649, doi. 10.1093/brain/awu196
By:
- Wu, Teddy Y.;
- Taylor, Jennifer M.;
- Kilfoyle, Dean H.;
- Smith, Andrew D.;
- McGuinness, Ben J.;
- Simpson, Mark P.;
- Walker, Elizabeth B.;
- Bergin, Peter S.;
- Cleland, James C.;
- Hutchinson, David O.;
- Anderson, Neil E.;
- Snow, Barry J.;
- Anderson, Tim J.;
- Paermentier, Laura A. F.;
- Cutfield, Nick J.;
- Chancellor, Andrew M.;
- Mossman, Stuart S.;
- Roxburgh, Richard H.
Publication type:
Article
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.
Published in:
2014
By:
- Wu, Teddy Y;
- Taylor, Jennifer M;
- Kilfoyle, Dean H;
- Smith, Andrew D;
- McGuinness, Ben J;
- Simpson, Mark P;
- Walker, Elizabeth B;
- Bergin, Peter S;
- Cleland, James C;
- Hutchinson, David O;
- Anderson, Neil E;
- Snow, Barry J;
- Anderson, Tim J;
- Paermentier, Laura A F;
- Cutfield, Nick J;
- Chancellor, Andrew M;
- Mossman, Stuart S;
- Roxburgh, Richard H
Publication type:
Journal Article
Coping in Children and Adolescents with a Genetic Muscle Disorder - Findings from a Population-Based Study.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 1069, doi. 10.3233/JND-200564
By:
- Jones, Kelly M.;
- Anand, Aaron;
- Bright, Charmaine;
- O'Grady, Gina;
- Rodrigues, Miriam J.;
- Ranta, Annemare;
- Roxburgh, Richard H.;
- Theadom, Alice
Publication type:
Article
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci.
Published in:
Genome Biology, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s13059-022-02826-4
By:
- 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.
Publication type:
Article
Globus pallidus degeneration and clinicopathological features of Huntington disease.
Published in:
2016
By:
- Singh‐Bains, Malvindar K.;
- Tippett, Lynette J.;
- Hogg, Virginia M.;
- Synek, Beth J.;
- Roxburgh, Richard H.;
- Waldvogel, Henry J.;
- Faull, Richard L. M.;
- Singh-Bains, Malvindar K
Publication type:
journal article
Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report.
Published in:
Journal of Neurology, 2023, v. 270, n. 2, p. 1154, doi. 10.1007/s00415-022-11422-2
By:
- Taylor, Rachael L.;
- Antunovich, Tonci;
- Chang, Thomas Ming Hong;
- Rodrigues, Miriam;
- Baker, Ashleigh;
- Bergin, Peter;
- McGuinness, Ben;
- Roxburgh, Richard H.
Publication type:
Article
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Published in:
Brain Communications, 2023, v. 5, n. 4, p. 1, doi. 10.1093/braincomms/fcad208
By:
- 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
Publication type:
Article
Potential PINK1 Founder Effect in Polynesia Causing Early‐Onset Parkinson's Disease.
Published in:
Movement Disorders, 2021, v. 36, n. 9, p. 2199, doi. 10.1002/mds.28665
By:
- Patel, Shilpan G.;
- Buchanan, Christina M.;
- Mulroy, Eoin;
- Simpson, Mark;
- Reid, Hannah A.;
- Drake, Kylie M.;
- Merriman, Marilyn E.;
- Phipps‐Green, Amanda;
- Cadzow, Murray;
- Merriman, Tony R.;
- Anderson, Neil E.;
- Child, Nicholas;
- Barber, P. Alan;
- Roxburgh, Richard H.
Publication type:
Article

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