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

Year Number of Results
2002 1
2009 1
2010 1
2011 1
2014 1
2016 1
2017 3
2020 2
2021 3
2022 1
2023 1
2024 0

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14 results

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Page 1
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: stephan cm. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
Illness-associated muscle weakness in dystroglycanopathies.
Carlson CR, McGaughey SD, Eskuri JM, Stephan CM, Zimmerman MB, Mathews KD. Carlson CR, et al. Among authors: stephan cm. Neurology. 2017 Dec 5;89(23):2374-2380. doi: 10.1212/WNL.0000000000004720. Epub 2017 Nov 3. Neurology. 2017. PMID: 29101272 Free PMC article.
Diagnostic delay in patients with FKRP-related muscular dystrophy.
Coffey LN, Stephan CM, Zimmerman MB, Decker CK, Mathews KD. Coffey LN, et al. Among authors: stephan cm. Neuromuscul Disord. 2021 Dec;31(12):1235-1240. doi: 10.1016/j.nmd.2021.08.013. Epub 2021 Sep 6. Neuromuscul Disord. 2021. PMID: 34857438 Free PMC article. Clinical Trial.
Pain interference and fatigue in limb-girdle muscular dystrophy R9.
Reelfs AM, Stephan CM, Mockler SRH, Laubscher KM, Zimmerman MB, Mathews KD. Reelfs AM, et al. Among authors: stephan cm. Neuromuscul Disord. 2023 Jun;33(6):523-530. doi: 10.1016/j.nmd.2023.05.005. Epub 2023 May 19. Neuromuscul Disord. 2023. PMID: 37247532 Free PMC article.
Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
Libell EM, Richardson JA, Lutz KL, Ng BY, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman BM, Edens ER, Reinking BE, Mathews KD. Libell EM, et al. Among authors: stephan cm. Muscle Nerve. 2020 Nov;62(5):626-632. doi: 10.1002/mus.27052. Epub 2020 Sep 10. Muscle Nerve. 2020. PMID: 32914449 Free PMC article.
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.
Brun BN, Mockler SR, Laubscher KM, Stephan CM, Collison JA, Zimmerman MB, Mathews KD. Brun BN, et al. Among authors: stephan cm. J Child Neurol. 2017 Feb;32(2):204-209. doi: 10.1177/0883073816677680. Epub 2016 Nov 22. J Child Neurol. 2017. PMID: 27872178 Free PMC article. Clinical Trial.
Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.
Gedlinske AM, Stephan CM, Mockler SRH, Laubscher KM, Laubenthal KS, Crockett CD, Zimmerman MB, Mathews KD. Gedlinske AM, et al. Among authors: stephan cm. Neurology. 2020 Oct 13;95(15):e2131-e2139. doi: 10.1212/WNL.0000000000010604. Epub 2020 Aug 6. Neurology. 2020. PMID: 32764098 Free PMC article.
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.
14 results