E-LIB Suche - Ergebnisse für: Bernard, Genevieve

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/..