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A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.
Flanigan KM, Waldrop MA, Martin PT, Alles R, Dunn DM, Alfano LN, Simmons TR, Moore-Clingenpeel M, Burian J, Seok SC, Weiss RB, Vieland VJ. Flanigan KM, et al. Among authors: waldrop ma. Eur J Hum Genet. 2023 Jun;31(6):663-673. doi: 10.1038/s41431-023-01329-5. Epub 2023 Mar 20. Eur J Hum Genet. 2023. PMID: 36935420 Free PMC article.
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. Koboldt DC, et al. Among authors: waldrop ma. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 30054298 Free PMC article.
Update in Duchenne and Becker muscular dystrophy.
Waldrop MA, Flanigan KM. Waldrop MA, et al. Curr Opin Neurol. 2019 Oct;32(5):722-727. doi: 10.1097/WCO.0000000000000739. Curr Opin Neurol. 2019. PMID: 31343429 Review.
43 results