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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1877 1
1896 1
1898 1
1903 2
1912 2
1952 1
1954 1
1959 1
1962 1
1963 1
1964 2
1965 1
1966 1
1968 2
1969 1
1970 1
1971 1
1975 1
1996 1
2000 1
2001 2
2002 2
2003 4
2005 3
2006 1
2007 1
2008 5
2009 1
2010 1
2011 1
2012 6
2013 10
2014 12
2015 6
2016 7
2017 8
2018 5
2019 7
2020 7
2021 7
2022 10
2023 2
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114 results
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Page 1
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cortese A, et al. Among authors: roxburgh rh. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418. Brain. 2020. PMID: 32040566 Free PMC article.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: roxburgh rh. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: roxburgh r. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Koeks Z, et al. Among authors: roxburgh r. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280. J Neuromuscul Dis. 2017. PMID: 29125504 Free PMC article.
The neuro-otology of Susac syndrome.
Hardy TA, Taylor RL, Qiu J, O'Brien B, Gopinath S, Trewin B, Spring PJ, Shaffi M, Bolitho SJ, Garsia RJ, Roxburgh R, Mason DF, Ip J, Chan F, Chen L, Wilson I, Beadnall HN, Barnett MH, Parratt JDE, Watson JDG, Welgampola MS, Reddel SW, Tsang B, Halmagyi GM. Hardy TA, et al. Among authors: roxburgh r. J Neurol. 2020 Dec;267(12):3711-3722. doi: 10.1007/s00415-020-10086-0. Epub 2020 Jul 21. J Neurol. 2020. PMID: 32696340
Peripheral nerve ultrasound in Friedreich ataxia.
Mulroy E, Pelosi L, Leadbetter R, Joshi P, Rodrigues M, Mossman S, Kilfoyle D, Roxburgh R. Mulroy E, et al. Among authors: roxburgh r. Muscle Nerve. 2018 May;57(5):852-856. doi: 10.1002/mus.26012. Epub 2017 Nov 27. Muscle Nerve. 2018. PMID: 29130498
Spinocerebellar ataxia type 2-neuronopathy or neuropathy?
Pelosi L, Iodice R, Antenora A, Kilfoyle D, Mulroy E, Rodrigues M, Roxburgh R, Iovino A, Filla A, Manganelli F, Santoro L. Pelosi L, et al. Among authors: roxburgh r. Muscle Nerve. 2019 Sep;60(3):271-278. doi: 10.1002/mus.26613. Epub 2019 Jul 5. Muscle Nerve. 2019. PMID: 31228263
Diagnosis, differential diagnosis and misdiagnosis of Susac syndrome.
Triplett JD, Qiu J, O'Brien B, Gopinath S, Trewin B, Spring PJ, Shaffi M, Ip J, Chan F, Chen L, Wilson I, Muller C, Beadnall HN, Boggild M, Van der Walt A, Roxburgh R, Seery N, Kalincik T, Barnett MH, Parratt JDE, Reddel SW, Tsang B, Hardy TA. Triplett JD, et al. Among authors: roxburgh r. Eur J Neurol. 2022 Jun;29(6):1771-1781. doi: 10.1111/ene.15317. Epub 2022 Mar 25. Eur J Neurol. 2022. PMID: 35262238 Free PMC article.
114 results