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Page 1
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Böhm J, et al. Among authors: mahoney lj. Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22396310 Free PMC article.
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB. Boyden SE, et al. Among authors: mahoney lj. Neurogenetics. 2012 May;13(2):115-24. doi: 10.1007/s10048-012-0315-z. Epub 2012 Feb 28. Neurogenetics. 2012. PMID: 22371254 Free PMC article.
A bioinformatics screen reveals hox and chromatin remodeling factors at the Drosophila histone locus.
Hodkinson LJ, Smith C, Comstra HS, Ajani BA, Albanese EH, Arsalan K, Daisson AP, Forrest KB, Fox EH, Guerette MR, Khan S, Koenig MP, Lam S, Lewandowski AS, Mahoney LJ, Manai N, Miglay J, Miller BA, Milloway O, Ngo N, Ngo VD, Oey NF, Punjani TA, SiMa H, Zeng H, Schmidt CA, Rieder LE. Hodkinson LJ, et al. Among authors: mahoney lj. BMC Genom Data. 2023 Sep 21;24(1):54. doi: 10.1186/s12863-023-01147-0. BMC Genom Data. 2023. PMID: 37735352 Free PMC article.
A bioinformatics screen reveals Hox and chromatin remodeling factors at the Drosophila histone locus.
Hodkinson LJ, Smith C, Comstra HS, Albanese EH, Ajani BA, Arsalan K, Daisson AP, Forrest KB, Fox EH, Guerette MR, Khan S, Koenig MP, Lam S, Lewandowski AS, Mahoney LJ, Manai N, Miglay J, Miller BA, Milloway O, Ngo VD, Oey NF, Punjani TA, SiMa H, Zeng H, Schmidt CA, Rieder LE. Hodkinson LJ, et al. Among authors: mahoney lj. bioRxiv [Preprint]. 2023 Jan 6:2023.01.06.523008. doi: 10.1101/2023.01.06.523008. bioRxiv. 2023. PMID: 36711759 Free PMC article. Updated. Preprint.
Screening mammography: interpretation of the data.
Kotwall CA, Mahoney LJ. Kotwall CA, et al. Among authors: mahoney lj. Surg Oncol. 1994 Oct;3(5):305-7. doi: 10.1016/0960-7404(94)90033-7. Surg Oncol. 1994. PMID: 7889224
37 results