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Richard H Roxburgh

Showing results (21-30 of 39) with videos related to

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Journal of Neurology|December 28, 2012
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestryRichard H Roxburgh, Renate Marquis-Nicholson, Fern Ashton, et al.
BMJ Neurology Open|March 8, 2021
Cerebrospinal fluid cannot be used to distinguish inflammatory myelitis from congestive myelopathy due to spinal dural arteriovenous fistula: case seriesVinojini Vivekanandam, Vivien Li, Teddy Wu, et al.
Journal of the Neurological Sciences|April 5, 2024
Neuronal intranuclear inclusion disease in New Zealand: A novel discoveryTony Zhang, Andrew Chancellor, Bernard Liem, et al.
Genome Biology|December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel lociHarriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Brain Communications|August 25, 2023
<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnosticsCarolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, et al.
Brain : a Journal of Neurology|August 28, 2020
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder alleleSarah J Beecroft, Andrea Cortese, Roisin Sullivan, et al.
BMJ Neurology Open|April 1, 2026
Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxiaChristian Rummey, Ian A Blair, Clementina Mesaros, et al.
Brain : a Journal of Neurology|October 26, 2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesCarolin K Scriba, Sarah J Beecroft, Joshua S Clayton, et al.
Journal of the Neurological Sciences|May 27, 2025
The genetics of motor neuron disease in New ZealandMiran Mrkela, Miriam Rodrigues, Serey Naidoo, et al.
Brain : a Journal of Neurology|July 30, 2014
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndromeTeddy Y Wu, Jennifer M Taylor, Dean H Kilfoyle, et al.
Pageof 4

Showing results (21-30 of 39) with videos related to

Sort By:
Pageof 4
Journal of Neurology|December 28, 2012
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestryRichard H Roxburgh, Renate Marquis-Nicholson, Fern Ashton, et al.
BMJ Neurology Open|March 8, 2021
Cerebrospinal fluid cannot be used to distinguish inflammatory myelitis from congestive myelopathy due to spinal dural arteriovenous fistula: case seriesVinojini Vivekanandam, Vivien Li, Teddy Wu, et al.
Journal of the Neurological Sciences|April 5, 2024
Neuronal intranuclear inclusion disease in New Zealand: A novel discoveryTony Zhang, Andrew Chancellor, Bernard Liem, et al.
Genome Biology|December 14, 2022
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel lociHarriet Dashnow, Brent S Pedersen, Laurel Hiatt, et al.
Brain Communications|August 25, 2023
<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnosticsCarolin K Scriba, Igor Stevanovski, Sanjog R Chintalaphani, et al.
Brain : a Journal of Neurology|August 28, 2020
A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder alleleSarah J Beecroft, Andrea Cortese, Roisin Sullivan, et al.
BMJ Neurology Open|April 1, 2026
Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxiaChristian Rummey, Ian A Blair, Clementina Mesaros, et al.
Brain : a Journal of Neurology|October 26, 2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesCarolin K Scriba, Sarah J Beecroft, Joshua S Clayton, et al.
Journal of the Neurological Sciences|May 27, 2025
The genetics of motor neuron disease in New ZealandMiran Mrkela, Miriam Rodrigues, Serey Naidoo, et al.
Brain : a Journal of Neurology|July 30, 2014
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndromeTeddy Y Wu, Jennifer M Taylor, Dean H Kilfoyle, et al.
Pageof 4