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Page 1
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
Cornell N, Childs AM, Wraige E, Munot P, Ambegaonkar G, Chow G, Hughes I, Illingworth M, Majumdar A, Marini-Bettolo C, Parasuraman D, Spinty S, Willis T, Scoto M, Baranello G; Paediatric UK Risdiplam EAMS Working Group. Cornell N, et al. Among authors: munot p. J Neuromuscul Dis. 2024;11(2):361-368. doi: 10.3233/JND-230162. J Neuromuscul Dis. 2024. PMID: 38189761 Free PMC article.
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.
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.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. Schartner V, et al. Among authors: munot p. Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23. Acta Neuropathol. 2017. PMID: 28012042
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Rodríguez Cruz PM, Hughes I, Manzur A, Munot P, Ramdas S, Wright R, Breen C, Pitt M, Pagnamenta AT, Taylor JC, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: munot p. Neuromuscul Disord. 2021 Jan;31(1):21-28. doi: 10.1016/j.nmd.2020.10.006. Epub 2020 Oct 20. Neuromuscul Disord. 2021. PMID: 33250374
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2.
Wadman RI, De Amicis R, Brusa C, Battezzati A, Bertoli S, Davis T, Main M, Manzur A, Mastella C, Munot P, Imbrigiotta N, Schottlaender L, Sarkozy A, Trucco F, Baranello G, Scoto M, Muntoni F. Wadman RI, et al. Among authors: munot p. Neuromuscul Disord. 2021 Feb;31(2):101-112. doi: 10.1016/j.nmd.2020.12.007. Epub 2020 Dec 19. Neuromuscul Disord. 2021. PMID: 33454188
64 results