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Bernard, Genevieve
1342
results:
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english X
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Online (1342)
Mediatypes
E-Books (3)
Articles (Online) (533)
Bookchapter (Online) (3)
OpenAccess-fulltext (803)
Sorted by: Relevance
Sorted by: Year
?
1
The natural history of variable subtypes in pediatric-onset..:
Vanderver, Adeline
;
Gavazzi, Francesco
;
Charsar, Brittany
...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108271 , 2024
Link:
https://doi.org/10.1016/..
?
2
Validation of GMFC-MLD scale as a measure of gross motor fu..:
Mutua, Sylvia
;
Sevagamoorthy, Anjana
;
Gavazzi, Francesco
...
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 107976 , 2024
Link:
https://doi.org/10.1016/..
?
3
The 37TrillionCells initiative for improving global healthc..:
Coulombe, Benoit
;
Durcan, Thomas M.
;
Bernard, Geneviève
...
Molecular Brain. 17 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
4
The use of a SOX10 reporter toward ameliorating oligodendro..:
Piscopo, Valerio E. C.
;
Chapleau, Alexandra
;
Blaszczyk, Gabriela J.
...
Glia. 72 (2024) 6 - p. 1165-1182 , 2024
Link:
https://doi.org/10.1002/..
?
5
Newborn screening in metachromatic leukodystrophy – Europea..:
Laugwitz, Lucia
;
Schoenmakers, Daphne H.
;
Adang, Laura A.
...
European Journal of Paediatric Neurology. 49 (2024) - p. 141-154 , 2024
Link:
https://doi.org/10.1016/..
?
6
Towards a Treatment for Leukodystrophy Using Cell-Based Int..:
Coulombe, Benoit
;
Chapleau, Alexandra
;
Macintosh, Julia
...
Biomolecules. 14 (2024) 7 - p. 857 , 2024
Link:
https://doi.org/10.3390/..
?
7
Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leu..:
Perrier, Stefanie
;
Macintosh, Julia
;
Misiaszek, Agata D.
...
Human Mutation. 2024 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1155/..
?
8
Letter to the Editor: The Application of Interleukin-1 Anta..:
Hamilton, Eline M.C.
;
Topaloglu, Pinar
;
Sinha, Jigyasha
...
Pediatric Neurology. 150 (2024) - p. 15-16 , 2024
Link:
https://doi.org/10.1016/..
?
9
Cover Image, Volume 72, Issue 6:
Piscopo, Valerio E. C.
;
Chapleau, Alexandra
;
Blaszczyk, Gabriela J.
...
Glia. 72 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1002/..
?
10
Hypomyelination, hypodontia and craniofacial abnormalities ..:
Michell-Robinson, Mackenzie A
;
Watt, Kristin E N
;
Grouza, Vladimir
...
Brain. 146 (2023) 12 - p. 5070-5085 , 2023
Link:
https://doi.org/10.1093/..
?
11
Cancer-associated fibroblasts in a 3D engineered tissue mod..:
Bollmann, Enola
;
Millet, Martial
;
Ringuette Goulet, Cassandra
...
Biophysical Journal. 122 (2023) 3 - p. 432a , 2023
Link:
https://doi.org/10.1016/..
?
12
Decreased RNA polymerase III Expression Leads to Several De..:
Macintosh, Julia
;
Michell-Robinson, Mackenzie A.
;
Chen, Xiaoru
.
Neurology. 100 (2023) 17_supplement_2 - p. , 2023
Link:
https://doi.org/10.1212/..
?
13
Recapitulation of POLR3-related hypomyelinating leukodystro..:
Michell-Robinson, Mackenzie
;
Watt, Kristin
;
Grouza, Vladimir
...
Journal of the Neurological Sciences. 455 (2023) - p. 121280 , 2023
Link:
https://doi.org/10.1016/..
?
14
Early transgene expression of GALC enzyme in a phase I/II s..:
Al-Zaidy, Samiah A.
;
Wolf, Nicole I.
;
Jones, Simon
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 106999 , 2023
Link:
https://doi.org/10.1016/..
?
15
Updated interim safety, biomarker, and efficacy data from I..:
Jarnes, Jeanine R.
;
Hastings, Caroline A.
;
Ficicioglu, Can H.
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107169 , 2023
Link:
https://doi.org/10.1016/..
1-15