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TDP-43 A315T mutation in familial motor neuron disease.
Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL 3rd, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ. Gitcho MA, et al. Ann Neurol. 2008 Apr;63(4):535-8. doi: 10.1002/ana.21344. Epub 2008 Feb 20. Ann Neurol. 2008. PMID: 18288693 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: al lozi mt. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 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.
Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres.
Neuwirth C, Braun N, Claeys KG, Bucelli R, Fournier C, Bromberg M, Petri S, Goedee S, Lenglet T, Leppanen R, Canosa A, Goodman I, Al-Lozi M, Ohkubo T, Hübers A, Atassi N, Abrahao A, Funke A, Appelfeller M, Tümmler A, Finegan E, Glass JD, Babu S, Ladha SS, Kwast-Rabben O, Juntas-Morales R, Coffey A, Chaudhry V, Vu T, Saephanh C, Newhard C, Zakrzewski M, Rosier E, Hamel N, Raheja D, Raaijman J, Ferguson T, Weber M. Neuwirth C, et al. Clin Neurophysiol. 2018 Aug;129(8):1756-1762. doi: 10.1016/j.clinph.2018.04.614. Epub 2018 May 3. Clin Neurophysiol. 2018. PMID: 29803404 Clinical Trial.
Absence of neurocognitive effect of hepatitis C infection in HIV-coinfected people.
Clifford DB, Vaida F, Kao YT, Franklin DR, Letendre SL, Collier AC, Marra CM, Gelman BB, McArthur JC, Morgello S, Simpson DM, Grant I, Heaton RK; CHARTER Group. Clifford DB, et al. Neurology. 2015 Jan 20;84(3):241-50. doi: 10.1212/WNL.0000000000001156. Epub 2014 Dec 10. Neurology. 2015. PMID: 25503616 Free PMC article.
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