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Page 1
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Among authors: connolly am. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824 Free PMC article.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: connolly am. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. Villar-Quiles RN, et al. Among authors: connolly am. J Neuromuscul Dis. 2021;8(4):633-645. doi: 10.3233/JND-200577. J Neuromuscul Dis. 2021. PMID: 33749658
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. Among authors: connolly am. Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332. Muscle Nerve. 2014. PMID: 25042182 Free PMC article. Clinical Trial.
Medical management of muscle weakness in Duchenne muscular dystrophy.
Rivera SR, Jhamb SK, Abdel-Hamid HZ, Acsadi G, Brandsema J, Ciafaloni E, Darras BT, Iannaccone ST, Konersman CG, Kuntz NL, McDonald CM, Parsons JA, Tesi Rocha C, Zaidman CM, Butterfield RJ, Connolly AM, Mathews KD. Rivera SR, et al. Among authors: connolly am. PLoS One. 2020 Oct 19;15(10):e0240687. doi: 10.1371/journal.pone.0240687. eCollection 2020. PLoS One. 2020. PMID: 33075081 Free PMC article.
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Among authors: connolly am. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK. Beck DB, et al. Among authors: connolly am. Neurogenetics. 2016 Jul;17(3):173-8. doi: 10.1007/s10048-016-0482-4. Epub 2016 Apr 19. Neurogenetics. 2016. PMID: 27094857
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM. Soltanzadeh P, et al. Among authors: connolly am. Neuromuscul Disord. 2010 Aug;20(8):499-504. doi: 10.1016/j.nmd.2010.05.010. Epub 2010 Jul 13. Neuromuscul Disord. 2010. PMID: 20630757 Free PMC article.
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Howard MT, Sampson JB, Swoboda KJ, Bromberg MB, Mendell JR, Taylor LE, Anderson CB, Pestronk A, Florence JM, Connolly AM, Mathews KD, Wong B, Finkel RS, Bonnemann CG, Day JW, McDonald C; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: connolly am. Hum Mutat. 2011 Mar;32(3):299-308. doi: 10.1002/humu.21426. Hum Mutat. 2011. PMID: 21972111 Free PMC article.
194 results