E-LIB Suche - Ergebnisse für: Bernard, Genevieve

1

The 37TrillionCells initiative for improving global healthc..:

Coulombe, Benoit ; Durcan, Thomas M. ; Bernard, Geneviève...
Molecular Brain. 17 (2024) 1 - p. , 2024

2

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/..

3

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/..

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

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/..

6

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/..

7

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/..

8

Solving inherited white matter disorder etiologies in the n..:

Perrier, Stefanie ; Guerrero, Kether ; Tran, Luan T....
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

9

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/..

10

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/..

11

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/..

12

Craniofacial features of POLR3-related leukodystrophy cause..:

Mirchi, Amytice ; Guay, Simon-Pierre ; Tran, Luan T...
Journal of Medical Genetics. 60 (2023) 10 - p. 1026-1034 , 2023

Link: https://doi.org/10.1136/..

13

Biallelic pathogenic variants in POLR3D alter tRNA transcri..:

Macintosh, Julia ; Perrier, Stefanie ; Pinard, Maxime...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

14

Neuropathological characterization of the cavitating leukoe..:

Chapleau, Alexandra ; Boucher, Renée-Myriam ; Pastinen, Tomi...
Frontiers in Cellular Neuroscience. 17 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

15

Pdgfrα-dependent Polr3b Exon Loss Recapitulates POLR3-relat..:

Michell-Robinson, Mackenzie A. ; Watt, Kristin E.N. ; Grouza, Vladimir...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..