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Brull, Astrid
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1

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:

Donkervoort, Sandra ; Mohassel, Payam ; O'Leary, Melanie...
Annals of Clinical and Translational Neurology.  11 (2024)  3 - p. 629-640 , 2024
Link: https://doi.org/10.1002/..
 
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2

Allele-specific CRISPR-Cas9 editing inactivates a single nu..:

Bolduc, Véronique ; Sizov, Katherine ; Brull, Astrid...
Molecular Therapy - Nucleic Acids.  35 (2024)  3 - p. 102269 , 2024
Link: https://doi.org/10.1016/..
 
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3

Optimized allele-specific silencing of the dominant-negativ..:

Brull, Astrid ; Sarathy, Apurva ; Bolduc, Véronique...
Molecular Therapy - Nucleic Acids.  35 (2024)  2 - p. 102178 , 2024
Link: https://doi.org/10.1016/..
 
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4

Preclinical Research in McArdle Disease: A Review of Resear..:

Villarreal-Salazar, Mónica ; Brull, Astrid ; Nogales-Gadea, Gisela...
Genes.  13 (2021)  1 - p. 74 , 2021
Link: https://doi.org/10.3390/..
 
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5

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dyst..:

Bertrand, Anne T. ; Brull, Astrid ; Azibani, Feriel...
Cells.  9 (2020)  4 - p. 844 , 2020
Link: https://doi.org/10.3390/..
 
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6

Lamin-Related Congenital Muscular Dystrophy Alters Mechanic..:

Owens, Daniel ; Messéant, Julien ; Moog, Sophie...
International Journal of Molecular Sciences.  22 (2020)  1 - p. 306 , 2020
Link: https://doi.org/10.3390/..
 
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7

Absence of p.R50X Pygm read-through in McArdle disease cell..:

Tarrasó, Guillermo ; Real-Martinez, Alberto ; Parés, Marta...
Disease Models & Mechanisms.  13 (2020)  1 - p. , 2020
Link: https://doi.org/10.1242/..
 
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8

Low survival rate and muscle fiber-dependent aging effects ..:

Real-Martinez, Alberto ; Brull, Astrid ; Huerta, Jordi...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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9

Systemic AAV8-mediated delivery of a functional copy of mus..:

McNamara, Elyshia L ; Taylor, Rhonda L ; Clayton, Joshua S...
Human Molecular Genetics.  29 (2019)  1 - p. 20-30 , 2019
Link: https://doi.org/10.1093/..
 
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10

The Pathogenesis and Therapies of Striated Muscle Laminopat..:

Brull, Astrid ; Morales Rodriguez, Blanca ; Bonne, Gisèle..
Frontiers in Physiology.  9 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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11

Clinical utility gene card for McArdle disease:

Taylor, Rhonda L. ; Davis, Mark ; Turner, Emma...
European Journal of Human Genetics.  26 (2018)  5 - p. 758-764 , 2018
Link: https://doi.org/10.1038/..
 
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12

Exercising with blocked muscle glycogenolysis: Adaptation i..:

Nielsen, Tue L. ; Pinós, Tomàs ; Brull, Astrid..
Molecular Genetics and Metabolism.  123 (2018)  1 - p. 21-27 , 2018
Link: https://doi.org/10.1016/..
 
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13

Gene Therapy via Trans-Splicing for LMNA-Related Congenital..:

Azibani, Feriel ; Brull, Astrid ; Arandel, Ludovic...
Molecular Therapy - Nucleic Acids.  10 (2018)  - p. 376-386 , 2018
Link: https://doi.org/10.1016/..
 
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14

Differential Muscle Involvement in Mice and Humans Affected..:

Krag, Thomas O. ; Pinós, Tomàs ; Nielsen, Tue L....
Journal of Neuropathology & Experimental Neurology.  75 (2016)  5 - p. 441-454 , 2016
Link: https://doi.org/10.1093/..
 
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15

Phenotype consequences of myophosphorylase dysfunction: ins..:

Brull, Astrid ; de Luna, Noemí ; Blanco‐Grau, Albert...
The Journal of Physiology.  593 (2015)  12 - p. 2693-2706 , 2015
Link: https://doi.org/10.1113/..
 
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