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Rojeen Shahni
Rojeen Shahni
UCL Institute of Child Health
Biology
Mitochondrial disease
Genetics
Acylglycerol kinase
Exome sequencing
3
Papers
118
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Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission
2015
Brain
Rojeen Shahni
Catherine M. Cale
Glenn Anderson
Laura D. Osellame
Sophie Hambleton
Ts Jacques
Yehani Wedatilake
Jan-Willem Taanman
Emma Chan
Waseem Qasim
Vincent Plagnol
Annapurna Chalasani
Michael R. Duchen
Kimberly Gilmour
Shamima Rahman
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Citations (52)
Bi‐allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3‐methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation
2015
Journal of Inherited Metabolic Disease
Marta Kanabus
Rojeen Shahni
José W. Saldanha
Elaine Murphy
Vincent Plagnol
William van’t Hoff
Simon Heales
Shamima Rahman
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Citations (27)
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
2013
American Journal of Medical Genetics Part A
Rojeen Shahni
Yehani Wedatilake
Maureen Cleary
Keith J. Lindley
Keith Sibson
Shamima Rahman
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Citations (39)
1