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M

Mackenzie A. Michell-Robinson

mcgill university
H指数:9
被引数:1,022

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Comprehensive Genotype-Phenotype Analysis in POLR3-Related Disorders

POLR3相关疾病的全面基因型-表型分析

Human Genetics and Genomics Advances
IF3.6
2025-07-180
OAAI
Mackenzie A. Michell-Robinson; Stefanie Perrier; Samuel Gauthier; Alexa Derksen; Quentin Sabbagh; Mathias Girbig; Agata D. Misiaszek; Amy M. Pizzino; Deborah L. Renaud; Danilo De Assis Pereira; Paola Okuda; Luciana Maestri Karoleska; Stephanie Keller; Karen Chong; Laurence Gauquelin; Bernard Brais; Barbara Leube; Tiffany Grider; Michael E. Shy; Rebecca Schüle; Martina Minnerop; Enrico Bertini; Francesco Nicita; Davide Tonduti; Christoph W. Müller; Adeline Vanderver; Nicole I. Wolf; Geneviève Bernard
Recapitulation of POLR3-related hypomyelinating leukodystrophy phenotypes in mice using a PDGFRA-dependent POLR3B exon-loss genetic model
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-12-010
PRE
Michell-Robinson, Mackenzie; Watt, Kristin; Grouza, Vladimir; Macintosh, Julia; Pinard, Maxime; Tuznik, Marius; Chen, Xiaoru; Darbelli, Lama; Wu, Chia-Lun; Perrier, Stefanie; Chitsaz, Daryan; Uccelli, Nonthue; Liu, Hanwen; Cox, Timothy; Mueller, Christoph; Kennedy, Timothy; Coulombe, Benoit; Rudko, David; Trainor, Paul; Bernard, Genevieve
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

Polr3b小鼠脑白质营养不良模型的低髓化，低骨性和颅面异常

BRAIN
IF11.7
2023-08-283
OAAI
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, Nonthue A.; Liu, Hanwen; Cox, Timothy C.; Mueller, Christoph W.; Kennedy, Timothy E.; Coulombe, Benoit; Rudko, David A.; Trainor, Paul A.; Bernard, Genevieve
Pdgfr α-dependent Polr3b Exon Loss Recapitulates POLR3-related Hypomyelinating Leukodystrophy Phenotypes in vivo
NEUROLOGY
IF8.5
2023-04-250
PRE
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, Nonthue A.; Liu, Hanwen; Cox, Timothy; Mueller, Christoph W.; Kennedy, Timothy E.; Coulombe, Benoit; Rudko, David; Trainor, Paul A.; Bernard, Genevieve
Discovery of Phospholipase D Inhibitors with Improved Drug-likeProperties and Central Nervous System Penetrance
ACS MEDICINAL CHEMISTRY LETTERS
IF4
2022-03-035
OA
May-Dracka, Tricia L.; Gao, Fang; Hopkins, Brian T.; Hronowski, Xiaoping; Chen, Teyu; Chodaparambil, Jayanth, V; Metrick, Claire M.; Cullivan, Mike; Enyedy, Istvan; Kaliszczak, Maciej; Kankel, Mark W.; Marx, Isaac; Michell-Robinson, Mackenzie A.; Murugan, Param; Kumar, P. Rajesh; Rooney, Michael; Schuman, Eli; Sen, Anindya; Wang, Ti; Ye, Tao; Peterson, Emily A.
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy
NEUROLOGY-GENETICS
IF3.7
2020-06-0123
OAAI
Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K.; Michell-Robinson, Mackenzie A.; Tran, Luan T.; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L.; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B.; Tejera-Martin, Ingrid; Monton, Fernando I.; Rodriguez-Espinosa, Norberto; Pohl, Daniela; Nageswaran, Savithri; Grefe, Annette; Glamuzina, Emma; Bernard, Genevieve

研究方向

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G
Geneviève Bernard
H 指数:44论文数:264被引数:7,749
S
Stefanie Perrier
H 指数:8论文数:21被引数:182
J
Julia Macintosh
H 指数:5论文数:15被引数:104
X
Xiaoru Chen
H 指数:19论文数:99被引数:1,173
V
Vladimir Grouza
H 指数:5论文数:16被引数:125
J
Jack P. Antel
H 指数:122论文数:755被引数:5.8万
L
Luke M. Healy
H 指数:36论文数:88被引数:7,767
L
Lama Darbelli
H 指数:9论文数:24被引数:373
T
Timothy E. Kennedy
H 指数:62论文数:245被引数:1.3万
B
Benoit Coulombe
H 指数:42论文数:256被引数:7,331