Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development

por Macintosh, Julia, Michell-Robinson, Mackenzie, Chen, Xiaoru, Bernard, Geneviève
Publicado 2023

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

por Macintosh, Julia, Thiffault, Isabelle, Pastinen, Tomi, Sztriha, László, Bernard, Geneviève
Publicado 2023

An optimized and validated protocol for the purification of PDGFRα+ oligodendrocyte precursor cells from mouse brain tissue via immunopanning

por Macintosh, Julia, Michell-Robinson, Mackenzie A., Chen, Xiaoru, Chitsaz, Daryan, Kennedy, Timothy E., Bernard, Geneviève
Publicado 2023

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

por Macintosh, Julia, Perrier, Stefanie, Pinard, Maxime, Tran, Luan T., Guerrero, Kether, Prasad, Chitra, Prasad, Asuri N., Pastinen, Tomi, Thiffault, Isabelle, Coulombe, Benoit, Bernard, Geneviève
Publicado 2023

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

por Michell-Robinson, Mackenzie A, Watt, Kristin E N, Grouza, Vladimir, Macintosh, Julia, Pinard, Maxime, Tuznik, Marius, Chen, Xiaoru, Darbelli, Lama, Wu, Chia-Lun, Perrier, Stefanie, Chitsaz, Daryan, Uccelli, Nonthué A, Liu, Hanwen, Cox, Timothy C, Müller, Christoph W, Kennedy, Timothy E, Coulombe, Benoit, Rudko, David A, Trainor, Paul A, Bernard, Geneviève
Publicado 2023