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Page 1
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31.
Nat Med. 2021.
PMID: 34059824
Free PMC article.
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. Among authors: nalls ma.
bioRxiv [Preprint]. 2023 Jun 24:2023.06.22.545964. doi: 10.1101/2023.06.22.545964.
bioRxiv. 2023.
PMID: 38586035
Free PMC article.
Preprint.
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A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant.
Bolduc V, Guirguis F, Lubben B, Trank L, Silverstein S, Brull A, Nalls M, Cheng J, Garrett L, Bönnemann CG.
Bolduc V, et al. Among authors: nalls m.
bioRxiv [Preprint]. 2024 Mar 22:2024.03.21.581572. doi: 10.1101/2024.03.21.581572.
bioRxiv. 2024.
PMID: 38585878
Free PMC article.
Preprint.
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Donkervoort S, Mohassel P, Laugwitz L, Zaki MS, Kamsteeg EJ, Maroofian R, Chao KR, Verschuuren-Bemelmans CC, Horber V, Fock AJM, McCarty RM, Jain MS, Biancavilla V, McMacken G, Nalls M, Voermans NC, Elbendary HM, Snyder M, Cai C, Lehky TJ, Stanley V, Iannaccone ST, Foley AR, Lochmüller H, Gleeson J, Houlden H, Haack TB, Horvath R, Bönnemann CG.
Donkervoort S, et al. Among authors: nalls m.
Am J Med Genet A. 2020 Oct;182(10):2272-2283. doi: 10.1002/ajmg.a.61765. Epub 2020 Aug 10.
Am J Med Genet A. 2020.
PMID: 32776697
Free PMC article.
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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group; Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG.
Bolduc V, et al. Among authors: nalls m.
JCI Insight. 2019 Mar 21;4(6):e124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21.
JCI Insight. 2019.
PMID: 30895940
Free PMC article.
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