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Correction: Onasemnogene Abeparvovec for Treating Pre-symptomatic Spinal Muscular Atrophy: An External Assessment Group Perspective of the Partial Review of NICE Highly Specialised Technology Evaluation 15.
Chaplin M, Bresnahan R, Fleeman N, Mahon J, Houten R, Beale S, Boland A, Dundar Y, Marsden A, Munot P. Chaplin M, et al. Among authors: munot p. Pharmacoecon Open. 2023 Nov;7(6):1015. doi: 10.1007/s41669-023-00462-7. Pharmacoecon Open. 2023. PMID: 38051493 Free PMC article. No abstract available.
The neuropathological consequences of CDKL5 mutation.
Paine SM, Munot P, Carmichael J, Das K, Weber MA, Prabhakar P, Jacques TS. Paine SM, et al. Among authors: munot p. Neuropathol Appl Neurobiol. 2012 Dec;38(7):744-7. doi: 10.1111/j.1365-2990.2012.01292.x. Neuropathol Appl Neurobiol. 2012. PMID: 22812903 No abstract available.
Childhood optic neuritis clinical features and outcome.
Absoud M, Cummins C, Desai N, Gika A, McSweeney N, Munot P, Hemingway C, Lim M, Nischal KK, Wassmer E. Absoud M, et al. Among authors: munot p. Arch Dis Child. 2011 Sep;96(9):860-2. doi: 10.1136/adc.2009.175422. Epub 2010 Jun 16. Arch Dis Child. 2011. PMID: 20554767
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: munot p. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
64 results