-
McKelvie, P, Marotta, R, Thorburn, DR, Chin, J, Punchihewa, S, Collins, S.
A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations..
Neuromuscul Disord
22(5)
:
401 -405
2012
view publication
-
Pfeffer, G, Majamaa, K, Turnbull, DM, Thorburn, D, Chinnery, PF.
Treatment for mitochondrial disorders..
Cochrane Database Syst Rev
2012(4)
:
CD004426
2012
view publication
-
Ke, B-X, Pepe, S, Grubb, DR, Komen, JC, Laskowski, A, Rodda, FA, Hardman, BM, Pitt, JJ, Ryan, MT, Lazarou, M, et al.
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy..
Proc Natl Acad Sci U S A
109(16)
:
6165 -6170
2012
view publication
-
Pfeffer, G, Majamaa, K, Turnbull, D, Thorburn, D, Chinnery, PF.
P65 Systematic review of controlled trials in the treatment of mitochondrial disorders.
Neuromuscular Disorders
22:
s25
2012
view publication
-
Pfeffer, G, Thorburn, D, Turnbull, D, Majamaa, K, Chinnery, PF.
101 Systematic review of controlled trials in the treatment of mitochondrial disorders.
Journal of Neurology Neurosurgery & Psychiatry
83(3)
:
e1
2012
view publication