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Richard H Roxburgh
Richard H Roxburgh
Associate Professor, University of Auckland. Neurologist, Auckland City hospital
在 adhb.govt.nz 的电子邮件经过验证
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Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity
R Roxburgh, SR Seaman, T Masterman, AE Hensiek, SJ Sawcer, ...
Neurology 64 (7), 1144-1151, 2005
10872005
The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ...
Human mutation 36 (4), 395-402, 2015
7462015
Prevalence of muscular dystrophies: a systematic literature review
A Theadom, M Rodrigues, R Roxburgh, S Balalla, C Higgins, ...
Neuroepidemiology 43 (3-4), 259-268, 2015
3452015
HLA-DR 15 is associated with female sex and younger age at diagnosis in multiple sclerosis
AE Hensiek, SJ Sawcer, R Feakes, J Deans, A Mander, E Akesson, ...
Journal of Neurology, Neurosurgery & Psychiatry 72 (2), 184-187, 2002
2062002
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
A Cortese, S Tozza, WY Yau, S Rossi, SJ Beecroft, Z Jaunmuktane, ...
Brain 143 (2), 480-490, 2020
1952020
Clinical outcomes in Duchenne muscular dystrophy: a study of 5345 patients from the TREAT-NMD DMD global database
Z Koeks, CL Bladen, D Salgado, E Van Zwet, O Pogoryelova, ...
Journal of neuromuscular diseases 4 (4), 293-306, 2017
1692017
Haplotypes and gene expression implicate the MAPT region for Parkinson disease: The GenePD Study
JE Tobin, JC Latourelle, MF Lew, C Klein, O Suchowersky, HA Shill, ...
Neurology 71 (1), 28-34, 2008
1502008
A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility
S Sawcer, M Maranian, E Setakis, V Curwen, E Akesson, A Hensiek, ...
Brain 125 (6), 1337-1347, 2002
1472002
A retrospective study of the impact of lifestyle on age at onset of Huntington disease
MK Trembath, ZA Horton, L Tippett, V Hogg, VR Collins, A Churchyard, ...
Movement Disorders 25 (10), 1444-1450, 2010
1252010
The Gly2019Ser mutation in LRRK2is not fully penetrant in familial Parkinson's disease: the GenePD study
JC Latourelle, M Sun, MF Lew, O Suchowersky, C Klein, LI Golbe, ...
BMC medicine 6, 1-7, 2008
1222008
Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia
A Reiner, E Shelby, H Wang, Z DeMarch, Y Deng, NH Guley, V Hogg, ...
Movement Disorders 28 (12), 1691-1699, 2013
1152013
The TREAT‐NMD D uchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
CL Bladen, K Rafferty, V Straub, S Monges, A Moresco, H Dawkins, A Roy, ...
Human mutation 34 (11), 1449-1457, 2013
1112013
Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
CL Bladen, R Thompson, JM Jackson, C Garland, C Wegel, A Ambrosini, ...
Journal of neurology 261, 152-163, 2014
1092014
A genome screen for multiple sclerosis in Italian families
S Broadley, S Sawcer, S D’Alfonso, A Hensiek, F Coraddu, J Gray, ...
Genes & Immunity 2 (4), 205-210, 2001
942001
Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia ‘CANVAS’syndrome
TY Wu, JM Taylor, DH Kilfoyle, AD Smith, BJ McGuinness, MP Simpson, ...
Brain 137 (10), 2649-2656, 2014
892014
Optical coherence tomography findings in Huntington’s disease: a potential biomarker of disease progression
HM Kersten, HV Danesh-Meyer, DH Kilfoyle, RH Roxburgh
Journal of neurology 262, 2457-2465, 2015
862015
Widespread heterogeneous neuronal loss across the cerebral cortex in Huntington's disease
AL Nana, EH Kim, DCV Thu, DE Oorschot, LJ Tippett, VM Hogg, BJ Synek, ...
Journal of Huntington's disease 3 (1), 45-64, 2014
832014
Cortical interneuron loss and symptom heterogeneity in Huntington disease
EH Kim, DCV Thu, LJ Tippett, DE Oorschot, VM Hogg, R Roxburgh, ...
Annals of neurology 75 (5), 717-727, 2014
822014
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double …
B Schoser, M Roberts, BJ Byrne, S Sitaraman, H Jiang, P Laforêt, ...
The Lancet Neurology 20 (12), 1027-1037, 2021
792021
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
CK Scriba, SJ Beecroft, JS Clayton, A Cortese, R Sullivan, WY Yau, ...
Brain 143 (10), 2904-2910, 2020
762020
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