Brull A - Search Results

1

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. Among authors: brull a. 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.

2

Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy.

Brull A, Sarathy A, Bolduc V, Chen GS, McCarty RM, Bönnemann CG. Brull A, et al. Mol Ther Nucleic Acids. 2024 Mar 22;35(2):102178. doi: 10.1016/j.omtn.2024.102178. eCollection 2024 Jun 11. Mol Ther Nucleic Acids. 2024. PMID: 38617974 Free PMC article.

3

Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.

Bolduc V, Sizov K, Brull A, Esposito E, Chen GS, Uapinyoying P, Sarathy A, Johnson K, Bönnemann CG. Bolduc V, et al. Among authors: brull a. bioRxiv [Preprint]. 2024 Mar 22:2024.03.22.586265. doi: 10.1101/2024.03.22.586265. bioRxiv. 2024. PMID: 38585815 Free PMC article. Preprint.

4

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: brull a. bioRxiv [Preprint]. 2024 Mar 22:2024.03.21.581572. doi: 10.1101/2024.03.21.581572. bioRxiv. 2024. PMID: 38585878 Free PMC article. Preprint.

5

Transient receptor potential vanilloid 1 plays a major role in low temperature-mediated skin barrier dysfunction.

Kim BE, Hui-Beckman J, Lyubchenko T, Hall CF, Fallahi S, Brull A, Goleva E, Leung DYM. Kim BE, et al. Among authors: brull a. J Allergy Clin Immunol. 2022 Aug;150(2):362-372.e7. doi: 10.1016/j.jaci.2022.01.027. Epub 2022 Feb 19. J Allergy Clin Immunol. 2022. PMID: 35189126

6

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

Villarreal-Salazar M, Brull A, Nogales-Gadea G, Andreu AL, Martín MA, Arenas J, Santalla A, Lucia A, Vissing J, Krag TO, Pinós T. Villarreal-Salazar M, et al. Among authors: brull a. Genes (Basel). 2021 Dec 28;13(1):74. doi: 10.3390/genes13010074. Genes (Basel). 2021. PMID: 35052414 Free PMC article. Review.

7

Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.

Owens DJ, Messéant J, Moog S, Viggars M, Ferry A, Mamchaoui K, Lacène E, Roméro N, Brull A, Bonne G, Butler-Browne G, Coirault C. Owens DJ, et al. Among authors: brull a. Int J Mol Sci. 2020 Dec 30;22(1):306. doi: 10.3390/ijms22010306. Int J Mol Sci. 2020. PMID: 33396724 Free PMC article.

8

Sensorized Tip for Monitoring People with Multiple Sclerosis that Require Assistive Devices for Walking.

Brull A, Zubizarreta A, Cabanes I, Rodriguez-Larrad A. Brull A, et al. Sensors (Basel). 2020 Aug 3;20(15):4329. doi: 10.3390/s20154329. Sensors (Basel). 2020. PMID: 32756509 Free PMC article.

9

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.

Bertrand AT, Brull A, Azibani F, Benarroch L, Chikhaoui K, Stewart CL, Medalia O, Ben Yaou R, Bonne G. Bertrand AT, et al. Among authors: brull a. Cells. 2020 Mar 31;9(4):844. doi: 10.3390/cells9040844. Cells. 2020. PMID: 32244403 Free PMC article.

10

Absence of p.R50X Pygm read-through in McArdle disease cellular models.

Tarrasó G, Real-Martinez A, Parés M, Romero-Cortadellas L, Puigros L, Moya L, de Luna N, Brull A, Martín MA, Arenas J, Lucia A, Andreu AL, Barquinero J, Vissing J, Krag TO, Pinós T. Tarrasó G, et al. Among authors: brull a. Dis Model Mech. 2020 Jan 13;13(1):dmm043281. doi: 10.1242/dmm.043281. Dis Model Mech. 2020. PMID: 31848135 Free PMC article.

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