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Bolduc, Véronique
49  results:
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1

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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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

The UCMD-Causing COL6A1 ( c . 930 + 189 C > T) Intron Mutat..:

Freiburg, Carolin D. ; Solomon-Degefa, Herimela ; Freiburg, Patrick...
Human Mutation.  2023 (2023)  - p. 1-16 , 2023
Link: https://doi.org/10.1155/..
 
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4

MLIP causes recessive myopathy with rhabdomyolysis, myalgia..:

Lopes Abath Neto, Osorio ; Medne, Livija ; Donkervoort, Sandra...
Brain.  144 (2021)  9 - p. 2722-2731 , 2021
Link: https://doi.org/10.1093/..
 
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5

BET1variants establish impaired vesicular transport as a ca..:

Donkervoort, Sandra ; Krause, Niklas ; Dergai, Mykola...
EMBO Molecular Medicine.  13 (2021)  12 - p. , 2021
Link: https://doi.org/10.15252..
 
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6

Pathogenic variants in COL6A3 cause Ullrich-like congenital..:

Bolduc, Véronique ; Minor, Katie M. ; Hu, Ying...
Neuromuscular Disorders.  30 (2020)  5 - p. 360-367 , 2020
Link: https://doi.org/10.1016/..
 
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7

Exon-Skipping Oligonucleotides Restore Functional Collagen ..:

Aguti, Sara ; Bolduc, Véronique ; Ala, Pierpaolo...
Molecular Therapy - Nucleic Acids.  21 (2020)  - p. 205-216 , 2020
Link: https://doi.org/10.1016/..
 
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8

Dominant collagen XII mutations cause a distal myopathy:

Mohassel, Payam ; Liewluck, Teerin ; Hu, Ying...
Annals of Clinical and Translational Neurology.  6 (2019)  10 - p. 1980-1988 , 2019
Link: https://doi.org/10.1002/..
 
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9

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S....
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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10

150. Further Development of an Allele-Specific Gene Silenci..:

Bolduc, Véronique ; Sizov, Katherine ; Sarathy, Apurva..
Molecular Therapy.  24 (2016)  - p. S60 , 2016
Link: https://doi.org/10.1016/..
 
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11

TPM3 deletions cause a hypercontractile congenital muscle s..:

Donkervoort, Sandra ; Papadaki, Maria ; de Winter, Josine M....
Annals of Neurology.  78 (2015)  6 - p. 982-994 , 2015
Link: https://doi.org/10.1002/..
 
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12

Mutations in riboflavin transporter present with severe sen..:

Srour, Myriam ; Putorti, Maria Lisa ; Schwartzentruber, Jeremy...
Muscle & Nerve.  50 (2014)  5 - p. 775-779 , 2014
Link: https://doi.org/10.1002/..
 
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13

siRNA-mediated Allele-specific Silencing of a COL6A3 Mutati..:

Bolduc, Véronique ; Zou, Yaqun ; Ko, Dayoung.
Molecular Therapy - Nucleic Acids.  3 (2014)  - p. e147 , 2014
Link: https://doi.org/10.1038/..
 
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14

DOK7 mutations presenting as a proximal myopathy in French ..:

Srour, Myriam ; Bolduc, Véronique ; Guergueltcheva, Velina...
Neuromuscular Disorders.  20 (2010)  7 - p. 453-457 , 2010
Link: https://doi.org/10.1016/..
 
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15

Identification and characterization of an Xp22.33;Yp11.2 tr..:

Chagnon, Pierre ; Schneider, Rayfel ; Hébert, Josée...
Arthritis & Rheumatism.  54 (2006)  4 - p. 1270-1278 , 2006
Link: https://doi.org/10.1002/..
 
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