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L

Lama Darbelli

mcgill university
H指数:9
被引数:376

个人简介

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教育背景

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工作经历

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荣誉奖项

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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
Expanded phenotype of AARS1-related white matter disease

AARS1-related白质病的扩展表型

GENETICS IN MEDICINE
IF6.2
2021-12-0110
OAAI
Heiman, Guy; Mendes, Marisa, I; Nicita, Francesco; Darbelli, Lama; Sherbini, Omar; Moore, Travis; Derksen, Alexa; Pizzino, Amy; Carrozzo, Rosalba; Torraco, Alessandra; Catteruccia, Michela; Aiello, Chiara; Goffrini, Paola; Figuccia, Sonia; Smith, Desiree E. C.; Hadzsiev, Kinga; Hahn, Andreas; Biskup, Saskia; Broesse, Ines; Kotzaeridou, Urania; Gauck, Darja; Grebe, Theresa A.; Elmslie, Frances; Stals, Karen; Gupta, Rajat; Bertini, Enrico; Thiffault, Isabelle; Taft, Ryan J.; Schiffmann, Raphael; Brandl, Ulrich; Haack, Tobias B.; Salomons, Gajja S.; Simons, Cas; Bernard, Genevieve; van der Knaap, Marjo S.; Vanderver, Adeline; Husain, Ralf A.
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2021-07-018
OAAI
Derksen, Alexa; Shih, Hung-Yu; Forget, Diane; Darbelli, Lama; Tran, Luan T.; Poitras, Christian; Guerrero, Kether; Tharun, Sundaresan; Alkuraya, Fowzan S.; Kurdi, Wesam, I; Nguyen, Cam-Tu Emilie; Laberge, Anne-Marie; Si, Yue; Gauthier, Marie-Soleil; Bonkowsky, Joshua L.; Coulombe, Benoit; Bernard, Genevieve
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

暂未获取到该数据
G
Geneviève Bernard
H 指数:44论文数:264被引数:7,771
B
Benoit Coulombe
H 指数:42论文数:256被引数:7,345
M
Mackenzie A. Michell‐Robinson
H 指数:9论文数:24被引数:1,026
S
Stefanie Perrier
H 指数:8论文数:21被引数:186
T
Timothy E. Kennedy
H 指数:62论文数:245被引数:1.3万
T
Timothy C. Cox
H 指数:57论文数:237被引数:9,964
P
Paul A. Trainor
H 指数:62论文数:338被引数:1.2万
D
David A. Rudko
H 指数:16论文数:88被引数:1,203
J
Julia Macintosh
H 指数:5论文数:15被引数:107
V
Vladimir Grouza
H 指数:5论文数:16被引数:126