-
Loetsch, C, Warren, J, Laskowski, A, Vazquez-Lombardi, R, Jandl, C, Langley, DB, Christ, D, Thorburn, DR, Ryugo, DK, Sprent, J, et al.
Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes..
Cell Rep
21(6)
:
1624 -1638
2017
view publication
-
Frazier, AE, Holt, IJ, Spinazzola, A, Thorburn, DR.
Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance..
Brain
140(11)
:
e67
2017
view publication
-
Lake, NJ, Webb, BD, Stroud, DA, Richman, TR, Ruzzenente, B, Compton, AG, Mountford, HS, Pulman, J, Zangarelli, C, Rio, M, et al.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome..
Am J Hum Genet
101(2)
:
239 -254
2017
view publication
-
Kang, Y, Stroud, DA, Baker, MJ, De Souza, DP, Frazier, AE, Liem, M, Tull, D, Mathivanan, S, McConville, MJ, Thorburn, DR, et al.
Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex..
Mol Cell
67(3)
:
457 -470.e5
2017
view publication
-
Desai, R, Frazier, AE, Durigon, R, Patel, H, Jones, AW, Dalla Rosa, I, Lake, NJ, Compton, AG, Mountford, HS, Tucker, EJ, et al.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism..
Brain
140(6)
:
1595 -1610
2017
view publication