Search Results - "ROXBURGH, Richard H"

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

“…Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative disease with onset in mid- to…”
Get full text

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

“…Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive late-onset, neurological disease. Recently, a pentanucleotide…”
Get full text

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

“…Expansions of short tandem repeats (STRs) cause many rare diseases. Expansion detection is challenging with short-read DNA sequencing data since supporting…”
Get full text

Ophthalmic manifestations of inherited neurodegenerative disorders by Kersten, Hannah M., Roxburgh, Richard H., Danesh-Meyer, Helen V.

“…Key Points Inherited neurodegenerative diseases are associated with a wide range of ocular abnormalities, which can cause substantial disability Ophthalmic…”
Get full text

Thrombo-embolic cerebral infarction secondary to giant Lambl’s excrescence by Wu, Teddy Y, Gerber, Ivor L, Roxburgh, Richard H

“…Abstract Lambl’s excrescences are common fibrinous strands found at the contact margin of cardiac valves. They are referred to as “giant” when multiple strands…”
Get full text

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

“…Patients with congestive myelopathy due to spinal dural arteriovenous fistula (SDAVF) typically present with progressive sensory and motor disturbance in…”
Get full text

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients by Rodrigues, Miriam J, O'Grady, Gina L, Hammond-Tooke, Graeme, Kidd, Alexa, Love, Donald O, Baker, Ronelle K, Roxburgh, Richard H

“…The New Zealand Neuromuscular Disease Patient Registry has been recruiting for five years. Its primary aim is to enable people with neuromuscular disease to…”
Get more information

Optical coherence tomography findings in Huntington’s disease: a potential biomarker of disease progression by Kersten, Hannah M., Danesh-Meyer, Helen V., Kilfoyle, Dean H., Roxburgh, Richard H.

“…Previous reports of ocular abnormalities in Huntington’s disease (HD) have detailed eye movement disorders. The objective of this case–control study was to…”
Get full text

Hyperactive vestibular and visually enhanced vestibulo-ocular reflexes in autosomal recessive cerebellar ataxia type 3: a case report by Taylor, Rachael L., Antunovich, Tonci, Chang, Thomas Ming Hong, Rodrigues, Miriam, Baker, Ashleigh, Bergin, Peter, McGuinness, Ben, Roxburgh, Richard H.

Get full text

Neuronopathy and neuropathy in autosomal dominant spino-cerebellar ataxia (SCA): A preliminary peripheral nerve ultrasound study by Pelosi, Luciana, Mulroy, Eoin, Rodrigues, Miriam J., Roxburgh, Richard H.

Get full text

Neuronal intranuclear inclusion disease in New Zealand: A novel discovery by Zhang, Tony, Chancellor, Andrew, Liem, Bernard, Turner, Clinton, Hutchinson, David, Wong, Edward, Glamuzina, Emma, Hong, Jae Beom, Cleland, James, Child, Nicholas, Roxburgh, Richard H., Patel, Shilpan, Lee, Yi-Chung, Liao, Yi-Chu, Anderson, Neil E.

“…Neuronal intranuclear inclusion disease, caused by a GGC repeat expansion in the 5′-untranslated region of NOTCH2NLC, is a rare neurodegenerative condition…”
Get full text

Successful cerebral intravascular thrombectomy stops the heart stopping by Yong, Vivien T. Y., Caldwell, James, Ershad, Shakiya, Roxburgh, Richard H.

“…A 65‐year‐old man presented with an acute ischaemic stroke due to right posterior cerebral artery occlusion, complicated by episodes of sinus arrest in the…”
Get full text

Corneal nerve microstructure in Parkinson’s disease by Misra, Stuti L, Kersten, Hannah M, Roxburgh, Richard H, Danesh-Meyer, Helen V, McGhee, Charles N.J

“…Highlights • This original research article provides further evidence to support the involvement of the peripheral nervous system in Parkinson’s disease,…”
Get full text

Nitrous oxide myelopathy: a case series by Patel, Shilpan G, Zhang, Tony, Liem, Bernard, Sundram, Frederick, Roxburgh, Richard H, Barber, P Alan

“…To describe the clinical features and outcomes of patients with myelopathy and neuropathy due to recreationally inhaled nitrous oxide. We identified patients…”
Get full text

Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1 by Kersten, Hannah M., Roxburgh, Richard H., Child, Nicholas, Polkinghorne, Philip J., Frampton, Chris, Danesh-Meyer, Helen V.

Get full text

Potential PINK1 Founder Effect in Polynesia Causing Early‐Onset Parkinson's Disease 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.

Get full text

3158 Nitrous oxide myelopathy: a case series by Patel, Shilpan, Zhang, Tony, Liem, Bernard, Roxburgh, Richard H, Sundram, Frederick, Barber, Alan

“…Background/ObjectivesTo describe the clinical features and outcomes of patients with myelopathy and neuropathy due to recreationally inhaled nitrous…”
Get full text

Ophthalmic findings in myotonic dystrophy type 2: a case series by Kersten, Hannah M., Danesh-Meyer, Helen V., Roxburgh, Richard H.

Get full text

Globus pallidus degeneration and clinicopathological features of Huntington disease by Singh-Bains, Malvindar K., Tippett, Lynette J., Hogg, Virginia M., Synek, Beth J., Roxburgh, Richard H., Waldvogel, Henry J., Faull, Richard L. M.

“…Objective Numerous studies have focused on striatal neurodegeneration in Huntington disease (HD). In comparison, the globus pallidus (GP), a main striatal…”
Get full text

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome by WU, Teddy Y, TAYLOR, Jennifer M, 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, KILFOYLE, Dean H, SMITH, Andrew D, MCGUINNESS, Ben J, SIMPSON, Mark P, WALKER, Elizabeth B, BERGIN, Peter S, CLELAND, James C, HUTCHINSON, David O

“…Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a recently recognized neurodegenerative ganglionopathy. Prompted by the presence of…”
Get full text