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/vufind/Search/Results?lookfor=%22Bolduc%2C+V%C3%A9ronique%22&type=Person&sort=year
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PubPharm (35)
1
Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy
enthalten in:
Molecular therapy. Nucleic acids
| 2024
von
Brull, A.
|
Sarathy, A.
|
Bolduc, V.
| +3
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2
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
enthalten in:
Science translational medicine
| 2024
von
Donkervoort, S.
|
van de Locht, M.
|
Ronchi, D.
| +41
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3
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
enthalten in:
bioRxiv.org
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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4
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
enthalten in:
medRxiv : the preprint server for health sciences
| 2024
von
Foley, A.
|
Bolduc, V.
|
Guirguis, F.
| +66
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5
A humanized knock-in
Col6a1
mouse recapitulates a deep-intronic splice-activating variant
enthalten in:
bioRxiv.org
| 2024
von
Bolduc, V.
|
Guirguis, F.
|
Lubben, B.
| +7
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6
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
enthalten in:
bioRxiv.org
| 2024
von
Bolduc, V.
|
Sizov, K.
|
Brull, A.
| +6
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7
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
enthalten in:
bioRxiv : the preprint server for biology
| 2024
von
Bolduc, V.
|
Sizov, K.
|
Brull, A.
| +6
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8
A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant
enthalten in:
bioRxiv : the preprint server for biology
| 2024
von
Bolduc, V.
|
Guirguis, F.
|
Lubben, B.
| +7
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9
Exon-Skipping for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy
enthalten in:
Methods in molecular biology (Clifton, N.J.)
| 2023
von
Aguti, S.
|
Guirguis, F.
|
Bönnemann, C.
| +3
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10
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
enthalten in:
EMBO molecular medicine
| 2021
von
Donkervoort, S.
|
Krause, N.
|
Dergai, M.
| +26
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4
bioRxiv.org
3
American journal of human genetics
3
Molecular therapy. Nucleic acids
2
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2
Human mutation
2
Neuromuscular disorders : NMD
2
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bioRxiv : the preprint server for biology
1
Annals of clinical and translational neurology
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1
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Thema
21
Journal Article
14
Research Support, Non-U.S. Gov't
5
Collagen Type VI
5
Research Support, N.I.H., Extramural
5
Research Support, N.I.H., Intramural
3
570
3
Biology
3
Case Reports
3
Col6a1 protein, human
3
Collagen VI
3
Muscle Proteins
3
Preprint
3
RNA, Messenger
2
COL6A1
2
Ullrich congenital muscular dystrophy
2
collagen VI
2
deep intronic mutation
2
genetic counseling
1
98600C0908
1
ANO5 protein, human
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Erscheinungszeitraum
16
2020-
14
2010-2019
5
2000-2009
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Sprache
30
Englisch
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