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Page 1
RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation.
Mov Disord. 2021 Mar;36(3):771-774. doi: 10.1002/mds.28371. Epub 2020 Nov 9.
Mov Disord. 2021.
PMID: 33165979
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.
Bushby K, et al.
Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.
Muscle Nerve. 2014.
PMID: 25042182
Free PMC article.
Clinical Trial.
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The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.
Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group.
Thangarajh M, et al.
Neurology. 2018 Sep 25;91(13):e1215-e1219. doi: 10.1212/WNL.0000000000006245. Epub 2018 Aug 22.
Neurology. 2018.
PMID: 30135256
Free PMC article.
Clinical Trial.
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Responsiveness of the motor function measure in neuromuscular diseases.
Vuillerot C, Payan C, Girardot F, Fermanian J, Iwaz J, Bérard C, Ecochard R; MFM Study Group.
Vuillerot C, et al.
Arch Phys Med Rehabil. 2012 Dec;93(12):2251-6.e1. doi: 10.1016/j.apmr.2012.05.025. Epub 2012 Jun 13.
Arch Phys Med Rehabil. 2012.
PMID: 22705238
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Impact of rotavirus vaccination on hospitalizations for rotavirus diarrhea: the IVANHOE study.
Gagneur A, Nowak E, Lemaitre T, Segura JF, Delaperrière N, Abalea L, Poulhazan E, Jossens A, Auzanneau L, Tran A, Payan C, Jay N, de Parscau L, Oger E; IVANHOE investigators.
Gagneur A, et al.
Vaccine. 2011 May 12;29(21):3753-9. doi: 10.1016/j.vaccine.2011.03.035. Epub 2011 Apr 13.
Vaccine. 2011.
PMID: 21443962
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Motor function measure: validation of a short form for young children with neuromuscular diseases.
de Lattre C, Payan C, Vuillerot C, Rippert P, de Castro D, Bérard C, Poirot I; MFM-20 Study Group.
de Lattre C, et al.
Arch Phys Med Rehabil. 2013 Nov;94(11):2218-26. doi: 10.1016/j.apmr.2013.04.001. Epub 2013 Apr 18.
Arch Phys Med Rehabil. 2013.
PMID: 23602884
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S.
Mercier S, et al. Among authors: mahe jy.
Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4.
Orphanet J Rare Dis. 2015.
PMID: 26471370
Free PMC article.
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