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Page 1
Paediatric myasthenia gravis: Prognostic factors for drug free remission.
Vecchio D, Ramdas S, Munot P, Pitt M, Beeson D, Knight R, Rodríguez Cruz P, Vincent A, Jayawant S, DeVile C, Buckley C, Hilton-Jones D, Robb S, Palace J. Vecchio D, et al. Among authors: munot p. Neuromuscul Disord. 2020 Feb;30(2):120-127. doi: 10.1016/j.nmd.2019.11.008. Epub 2019 Nov 21. Neuromuscul Disord. 2020. PMID: 32001147
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):863-875. doi: 10.1007/s41669-023-00439-6. Epub 2023 Sep 20. Pharmacoecon Open. 2023. PMID: 37731145 Free PMC article. Review.
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 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.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: munot p. Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107. Brain. 2019. PMID: 31081514 Free PMC article.
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Nemani T, Steel D, Kaliakatsos M, DeVile C, Ververi A, Scott R, Getov S, Sudhakar S, Male A, Mankad K; Genomics England Research Consortium; Muntoni F, Reilly MM, Kurian MA, Carr L, Munot P. Nemani T, et al. Among authors: munot p. J Peripher Nerv Syst. 2020 Jun;25(2):117-124. doi: 10.1111/jns.12368. Epub 2020 Mar 6. J Peripher Nerv Syst. 2020. PMID: 32096284
64 results