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2022 3
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2024 4

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Page 1
Collagen type VI regulates TGFβ bioavailability in skeletal muscle.
Mohassel P, Rooney J, Zou Y, Johnson K, Norato G, Hearn H, Nalls MA, Yun P, Ogata T, Silverstein S, Sleboda DA, Roberts TJ, Rifkin DB, Bönnemann CG. Mohassel P, et al. bioRxiv [Preprint]. 2023 Jun 24:2023.06.22.545964. doi: 10.1101/2023.06.22.545964. bioRxiv. 2023. PMID: 38586035 Free PMC article. Preprint.
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. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
Geist Hauserman J, Laverty CG, Donkervoort S, Hu Y, Silverstein S, Neuhaus SB, Saade D, Vaughn G, Malicki D, Kaur R, Li Y, Luo Y, Liu P, Burr P, Foley AR, Mohassel P, Bönnemann CG. Geist Hauserman J, et al. HGG Adv. 2024 Apr 11;5(2):100274. doi: 10.1016/j.xhgg.2024.100274. Epub 2024 Feb 2. HGG Adv. 2024. PMID: 38358893 Free PMC article.
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.
Todd JJ, Lawal TA, Chrismer IC, Kokkinis A, Grunseich C, Jain MS, Waite MR, Biancavilla V, Pocock S, Brooks K, Mendoza CJ, Norato G, Cheung K, Riekhof W, Varma P, Colina-Prisco C, Emile-Backer M, Meilleur KG, Marks AR, Webb Y, Marcantonio EE, Foley AR, Bönnemann CG, Mohassel P. Todd JJ, et al. EClinicalMedicine. 2024 Jan 25;68:102433. doi: 10.1016/j.eclinm.2024.102433. eCollection 2024 Feb. EClinicalMedicine. 2024. PMID: 38318125 Free PMC article.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC; Undiagnosed Disease Network; Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. Srivastava S, et al. Brain. 2023 Apr 19;146(4):1420-1435. doi: 10.1093/brain/awac460. Brain. 2023. PMID: 36718090 Free PMC article.
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
O'Connor TN, van den Bersselaar LR, Chen YS, Nicolau S, Simon B, Huseth A, Todd JJ, Van Petegem F, Sarkozy A, Goldberg MF, Voermans NC, Dirksen RT; RYR1 Myopathy Consortium. O'Connor TN, et al. J Neuromuscul Dis. 2023;10(1):135-154. doi: 10.3233/JND-221609. J Neuromuscul Dis. 2023. PMID: 36404556 Free PMC article. No abstract available.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Fiorillo C, Capodivento G, Geroldi A, Tozza S, Moroni I, Mohassel P, Cataldi M, Campana C, Morando S, Panicucci C, Pedemonte M, Brolatti N, Siliquini S, Traverso M, Baratto S, Debellis D, Magri S, Prada V, Bellone E, Salpietro V, Donkervoort S, Gable K, Gupta SD, Dunn TM, Bönnemann CG, Taroni F, Bruno C, Schenone A, Mandich P, Nobbio L, Nolano M. Fiorillo C, et al. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12842. doi: 10.1111/nan.12842. Epub 2022 Aug 10. Neuropathol Appl Neurobiol. 2022. PMID: 35904184 Free PMC article.