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Results: 1 to 20 of 65

1.

Congestive myeloradiculopathy in a patient with Cowden syndrome.

Wu TY, Willoughby E, Hutchinson DO, Brew S, McGuinness B, Lopes R, Love DR, Roxburgh RH.

J Clin Neurosci. 2014 Oct 7. pii: S0967-5868(14)00548-7. doi: 10.1016/j.jocn.2014.07.023. [Epub ahead of print]

PMID:
25304432
[PubMed - as supplied by publisher]
2.

Mystery Case: Cutaneous lesions in KRIT1-associated cerebral cavernous malformations.

Brownlee WJ, Roxburgh R.

Neurology. 2014 Sep 30;83(14):e133-4. doi: 10.1212/WNL.0000000000000849. No abstract available.

PMID:
25267988
[PubMed - in process]
3.

Autonomic dysfunction is a major feature of cerebellar ataxia, neuropathy, vestibular areflexia 'CANVAS' syndrome.

Wu TY, Taylor JM, Kilfoyle DH, Smith AD, McGuinness BJ, Simpson MP, Walker EB, Bergin PS, Cleland JC, Hutchinson DO, Anderson NE, Snow BJ, Anderson TJ, Paermentier LA, Cutfield NJ, Chancellor AM, Mossman SS, Roxburgh RH.

Brain. 2014 Oct;137(Pt 10):2649-56. doi: 10.1093/brain/awu196. Epub 2014 Jul 28.

PMID:
25070514
[PubMed - indexed for MEDLINE]
4.

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.

Nalls MA, Pankratz N, Lill CM, Do CB, Hernandez DG, Saad M, DeStefano AL, Kara E, Bras J, Sharma M, Schulte C, Keller MF, Arepalli S, Letson C, Edsall C, Stefansson H, Liu X, Pliner H, Lee JH, Cheng R; International Parkinson's Disease Genomics Consortium (IPDGC); Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI); 23andMe; GenePD; NeuroGenetics Research Consortium (NGRC); Hussman Institute of Human Genomics (HIHG); Ashkenazi Jewish Dataset Investigator; Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE); North American Brain Expression Consortium (NABEC); United Kingdom Brain Expression Consortium (UKBEC); Greek Parkinson's Disease Consortium; Alzheimer Genetic Analysis Group, Ikram MA, Ioannidis JP, Hadjigeorgiou GM, Bis JC, Martinez M, Perlmutter JS, Goate A, Marder K, Fiske B, Sutherland M, Xiromerisiou G, Myers RH, Clark LN, Stefansson K, Hardy JA, Heutink P, Chen H, Wood NW, Houlden H, Payami H, Brice A, Scott WK, Gasser T, Bertram L, Eriksson N, Foroud T, Singleton AB.

Nat Genet. 2014 Sep;46(9):989-93. doi: 10.1038/ng.3043. Epub 2014 Jul 27.

PMID:
25064009
[PubMed - in process]
5.

Widespread heterogeneous neuronal loss across the cerebral cortex in Huntington's disease.

Nana AL, Kim EH, Thu DC, Oorschot DE, Tippett LJ, Hogg VM, Synek BJ, Roxburgh R, Waldvogel HJ, Faull RL.

J Huntingtons Dis. 2014;3(1):45-64. doi: 10.3233/JHD-140092.

PMID:
25062764
[PubMed - indexed for MEDLINE]
6.

Ophthalmic manifestations of inherited neurodegenerative disorders.

Kersten HM, Roxburgh RH, Danesh-Meyer HV.

Nat Rev Neurol. 2014 Jun;10(6):349-62. doi: 10.1038/nrneurol.2014.79. Epub 2014 May 20. Review.

PMID:
24840976
[PubMed - indexed for MEDLINE]
7.

Cortical interneuron loss and symptom heterogeneity in Huntington disease.

Kim EH, Thu DC, Tippett LJ, Oorschot DE, Hogg VM, Roxburgh R, Synek BJ, Waldvogel HJ, Faull RL.

Ann Neurol. 2014 May;75(5):717-27. doi: 10.1002/ana.24162. Epub 2014 May 13.

PMID:
24771513
[PubMed - indexed for MEDLINE]
8.

The effect of hydrotherapy treatment on gait characteristics of hereditary spastic paraparesis patients.

Zhang Y, Roxburgh R, Huang L, Parsons J, Davies TC.

Gait Posture. 2014 Apr;39(4):1074-9. doi: 10.1016/j.gaitpost.2014.01.010. Epub 2014 Jan 29.

PMID:
24556467
[PubMed - indexed for MEDLINE]
9.

Hypoventilation in glycine-receptor antibody related progressive encephalomyelitis, rigidity and myoclonus.

Bourke D, Roxburgh R, Vincent A, Cleland J, Jeffery O, Dugan N, Abernethy D, King A, Anderson N.

J Clin Neurosci. 2014 May;21(5):876-8. doi: 10.1016/j.jocn.2013.07.014. Epub 2013 Sep 10.

PMID:
24411327
[PubMed - in process]
10.

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.

J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.

PMID:
24162038
[PubMed - indexed for MEDLINE]
11.

Epiretinal membrane: a treatable cause of visual disability in myotonic dystrophy type 1.

Kersten HM, Roxburgh RH, Child N, Polkinghorne PJ, Frampton C, Danesh-Meyer HV.

J Neurol. 2014 Jan;261(1):37-44. doi: 10.1007/s00415-013-7141-6. Epub 2013 Oct 17.

PMID:
24132671
[PubMed - indexed for MEDLINE]
12.

Striatal parvalbuminergic neurons are lost in Huntington's disease: implications for dystonia.

Reiner A, Shelby E, Wang H, Demarch Z, Deng Y, Guley NH, Hogg V, Roxburgh R, Tippett LJ, Waldvogel HJ, Faull RL.

Mov Disord. 2013 Oct;28(12):1691-9. doi: 10.1002/mds.25624. Epub 2013 Sep 3.

PMID:
24014043
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H.

Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.

PMID:
23913485
[PubMed - indexed for MEDLINE]
14.

A pain in the neck.

Brownlee WJ, Morrow J, McGuiness B, Pereira JA, Roxburgh R.

Pract Neurol. 2013 Dec;13(6):388-92. doi: 10.1136/practneurol-2013-000555. Epub 2013 Jun 8. No abstract available.

PMID:
23749879
[PubMed - indexed for MEDLINE]
15.

Thrombo-embolic cerebral infarction secondary to giant Lambl's excrescence.

Wu TY, Gerber IL, Roxburgh RH.

J Clin Neurosci. 2013 Nov;20(11):1632-4. doi: 10.1016/j.jocn.2012.08.015. Epub 2013 May 11.

PMID:
23669170
[PubMed - indexed for MEDLINE]
16.

Andersen-Tawil syndrome presenting as a fixed myopathy.

Child ND, Cleland JC, Roxburgh R.

Muscle Nerve. 2013 Oct;48(4):623. doi: 10.1002/mus.23872. Epub 2013 Aug 30. No abstract available.

PMID:
23568766
[PubMed - indexed for MEDLINE]
17.

The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

Roxburgh RH, Marquis-Nicholson R, Ashton F, George AM, Lea RA, Eccles D, Mossman S, Bird T, van Gassen KL, Kamsteeg EJ, Love DR.

J Neurol. 2013 May;260(5):1286-94. doi: 10.1007/s00415-012-6792-z. Epub 2012 Dec 27.

PMID:
23269439
[PubMed - indexed for MEDLINE]
18.

The unique co-occurrence of spinocerebellar ataxia type 10 (SCA10) and Huntington disease.

Roxburgh RH, Smith CO, Lim JG, Bachman DF, Byrd E, Bird TD.

J Neurol Sci. 2013 Jan 15;324(1-2):176-8. doi: 10.1016/j.jns.2012.09.030. Epub 2012 Oct 17.

PMID:
23083689
[PubMed - indexed for MEDLINE]
19.

The New Zealand Neuromuscular Disease Registry.

Rodrigues M, Hammond-Tooke G, Kidd A, Love D, Patel R, Dawkins H, Bellgard M, Roxburgh R.

J Clin Neurosci. 2012 Dec;19(12):1749-50. doi: 10.1016/j.jocn.2012.04.008. Epub 2012 Sep 19.

PMID:
22999565
[PubMed - indexed for MEDLINE]
20.

An international pilot study of an Internet-based platform to facilitate clinical research in epilepsy: the EpiNet project.

Bergin P, Sadleir L, Legros B, Mogal Z, Tripathi M, Dang N, Beretta S, Zanchi C, Burneo J, Borkowski T, Cho YJ, Ossemann M, Striano P, Srivastava K, Tan HJ, Wanigasinghe J, D'Souza W; EpiNet study group.

Epilepsia. 2012 Oct;53(10):1829-35. doi: 10.1111/j.1528-1167.2012.03636.x. Epub 2012 Sep 7.

PMID:
22958055
[PubMed - indexed for MEDLINE]
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