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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.
Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium; Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. Donkervoort S, et al. Among authors: dalton j. Acta Neuropathol. 2019 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29. Acta Neuropathol. 2019. PMID: 31463572 Free PMC article.
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L, Day J, Withrow K, Pandya A, Teasley J, Dobyns WB, Mathews KD, Moore SA. Jayakody H, et al. Among authors: dalton j. J Neuropathol Exp Neurol. 2020 Sep 1;79(9):998-1010. doi: 10.1093/jnen/nlaa062. J Neuropathol Exp Neurol. 2020. PMID: 32827036 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.
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN, Golden-Grant K, LaCroix A, Muir AM, Cintrón DL, McWalter K, Cho MT, Sun A, Merritt JL, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig KL, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan KG, Mefford HC. Dines JN, et al. Among authors: dalton j. Genet Med. 2019 Mar;21(3):601-607. doi: 10.1038/s41436-018-0137-y. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245509 Free PMC article.
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: dalton jc. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.
Connolly AM, Florence JM, Cradock MM, Eagle M, Flanigan KM, McDonald CM, Karachunski PI, Darras BT, Bushby K, Malkus EC, Golumbek PT, Zaidman CM, Miller JP, Mendell JR; MDA DMD Clinical Research Network. Connolly AM, et al. Pediatr Neurol. 2014 Jun;50(6):557-63. doi: 10.1016/j.pediatrneurol.2014.02.006. Epub 2014 Feb 15. Pediatr Neurol. 2014. PMID: 24842254 Free PMC article.
Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy.
Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, Siener CA, Golumbek PT, Zaidman CM, Mcdonald CM, Johnson L, Nicorici A, Karachunski PI, Day JW, Kelecic JM, Lowes LP, Alfano LN, Darras BT, Kang PB, Quigley J, Pasternak AE, Florence JM; MDA DMD Clinical Research Network. Connolly AM, et al. Muscle Nerve. 2015 Apr;51(4):522-32. doi: 10.1002/mus.24346. Epub 2015 Feb 11. Muscle Nerve. 2015. PMID: 25056178 Free PMC article.
Cerebral and muscle MRI abnormalities in myotonic dystrophy.
Franc DT, Muetzel RL, Robinson PR, Rodriguez CP, Dalton JC, Naughton CE, Mueller BA, Wozniak JR, Lim KO, Day JW. Franc DT, et al. Neuromuscul Disord. 2012 Jun;22(6):483-91. doi: 10.1016/j.nmd.2012.01.003. Epub 2012 Jan 30. Neuromuscul Disord. 2012. PMID: 22290140 Free PMC article.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics; Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB. Petrovski S, et al. Among authors: dalton j. Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21. Am J Hum Genet. 2016. PMID: 27108799 Free PMC article.
Spectrin mutations cause spinocerebellar ataxia type 5.
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Ikeda Y, et al. Among authors: dalton jc. Nat Genet. 2006 Feb;38(2):184-90. doi: 10.1038/ng1728. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429157
1,331 results