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Variable phenotypes associated with mutations in DOK7.
Anderson JA, Ng JJ, Bowe C, McDonald C, Richman DP, Wollmann RL, Maselli RA. Anderson JA, et al. Among authors: mcdonald c. Muscle Nerve. 2008 Apr;37(4):448-56. doi: 10.1002/mus.20944. Muscle Nerve. 2008. PMID: 18161030
Fulminant demyelinating neuropathy mimicking cerebral death.
Bakshi N, Maselli RA, Gospe SM Jr, Ellis WG, McDonald C, Mandler RN. Bakshi N, et al. Among authors: mcdonald c. Muscle Nerve. 1997 Dec;20(12):1595-7. doi: 10.1002/(sici)1097-4598(199712)20:12<1595::aid-mus17>3.0.co;2-#. Muscle Nerve. 1997. PMID: 9390675
The cooperative international neuromuscular research group Duchenne natural history study: glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures.
Henricson EK, Abresch RT, Cnaan A, Hu F, Duong T, Arrieta A, Han J, Escolar DM, Florence JM, Clemens PR, Hoffman EP, McDonald CM; CINRG Investigators. Henricson EK, et al. Muscle Nerve. 2013 Jul;48(1):55-67. doi: 10.1002/mus.23808. Epub 2013 May 6. Muscle Nerve. 2013. PMID: 23649481 Free PMC article.
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group; Spiegel R, Barth J, Elfring G, Reha A, Peltz S. McDonald CM, et al. Muscle Nerve. 2013 Sep;48(3):343-56. doi: 10.1002/mus.23902. Epub 2013 Jun 26. Muscle Nerve. 2013. PMID: 23681930 Free PMC article. Clinical Trial.
Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Maselli RA, et al. Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi: 10.1002/ajmg.a.38291. Epub 2017 May 25. Am J Med Genet A. 2017. PMID: 28544784 Free PMC article.
2,973 results