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2013 2
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2015 3
2016 1
2017 2
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2019 1
2024 0

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Page 1
Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease: Is the 2-minute walk test an effective alternative to a 6-minute walk test?
Witherspoon JW, Vasavada R, Logaraj RH, Waite M, Collins J, Shieh C, Meilleur K, Bönnemann C, Jain M. Witherspoon JW, et al. Eur J Paediatr Neurol. 2019 Jan;23(1):165-170. doi: 10.1016/j.ejpn.2018.10.001. Epub 2018 Oct 23. Eur J Paediatr Neurol. 2019. PMID: 30449663 Free PMC article. Clinical Trial.
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Nichols C, Jain MS, Meilleur KG, Wu T, Collins J, Waite MR, Dastgir J, Salman A, Donkervoort S, Duong T, Keller K, Leach ME, Lott DJ, McGuire MN, Nelson L, Rutkowski A, Vuillerot C, Bönnemann CG, Lehky TJ. Nichols C, et al. Muscle Nerve. 2018 Jan;57(1):54-60. doi: 10.1002/mus.25629. Epub 2017 Apr 25. Muscle Nerve. 2018. PMID: 28224647 Free PMC article.
Upper extremity outcome measures for collagen VI-related myopathy and LAMA2-related muscular dystrophy.
Bendixen RM, Butrum J, Jain MS, Parks R, Hodsdon B, Nichols C, Hsia M, Nelson L, Keller KC, McGuire M, Elliott JS, Linton MM, Arveson IC, Tounkara F, Vasavada R, Harnett E, Punjabi M, Donkervoort S, Dastgir J, Leach ME, Rutkowski A, Waite M, Collins J, Bönnemann CG, Meilleur KG. Bendixen RM, et al. Neuromuscul Disord. 2017 Mar;27(3):278-285. doi: 10.1016/j.nmd.2016.11.017. Epub 2016 Dec 5. Neuromuscul Disord. 2017. PMID: 28087121 Free PMC article.
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
Zukosky K, Meilleur K, Traynor BJ, Dastgir J, Medne L, Devoto M, Collins J, Rooney J, Zou Y, Yang ML, Gibbs JR, Meier M, Stetefeld J, Finkel RS, Schessl J, Elman L, Felice K, Ferguson TA, Ceyhan-Birsoy O, Beggs AH, Tennekoon G, Johnson JO, Bönnemann CG. Zukosky K, et al. JAMA Neurol. 2015 Jun;72(6):689-98. doi: 10.1001/jamaneurol.2015.37. JAMA Neurol. 2015. PMID: 25938801 Free PMC article.
Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies.
Meilleur KG, Jain MS, Hynan LS, Shieh CY, Kim E, Waite M, McGuire M, Fiorini C, Glanzman AM, Main M, Rose K, Duong T, Bendixen R, Linton MM, Arveson IC, Nichols C, Yang K, Fischbeck KH, Wagner KR, North K, Mankodi A, Grunseich C, Hartnett EJ, Smith M, Donkervoort S, Schindler A, Kokkinis A, Leach M, Foley AR, Collins J, Muntoni F, Rutkowski A, Bönnemann CG. Meilleur KG, et al. Neuromuscul Disord. 2015 Jan;25(1):43-54. doi: 10.1016/j.nmd.2014.09.010. Epub 2014 Sep 28. Neuromuscul Disord. 2015. PMID: 25307854 Free PMC article.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG. Donkervoort S, et al. Hum Mutat. 2015 Jan;36(1):48-56. doi: 10.1002/humu.22691. Hum Mutat. 2015. PMID: 25204870 Free PMC article.
English cross-cultural translation and validation of the neuromuscular score: a system for motor function classification in patients with neuromuscular diseases.
Vuillerot C, Meilleur KG, Jain M, Waite M, Wu T, Linton M, Datsgir J, Donkervoort S, Leach ME, Rutkowski A, Rippert P, Payan C, Iwaz J, Hamroun D, Bérard C, Poirot I, Bönnemann CG. Vuillerot C, et al. Arch Phys Med Rehabil. 2014 Nov;95(11):2064-2070.e1. doi: 10.1016/j.apmr.2014.05.003. Epub 2014 May 24. Arch Phys Med Rehabil. 2014. PMID: 24862765 Free PMC article.
Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG. Meilleur KG, et al. J Neuropathol Exp Neurol. 2014 May;73(5):425-41. doi: 10.1097/NEN.0000000000000065. J Neuropathol Exp Neurol. 2014. PMID: 24709677 Free PMC article.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center; Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Landouré G, et al. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23857908 Free PMC article.
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. Pierson TM, et al. Neuromuscul Disord. 2013 Jun;23(6):483-8. doi: 10.1016/j.nmd.2013.01.013. Epub 2013 Mar 1. Neuromuscul Disord. 2013. PMID: 23453856 Free PMC article.