Alison G Compton
Alison G Compton
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Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
SE Calvo, AG Compton, SG Hershman, SC Lim, DS Lieber, EJ Tucker, ...
Science translational medicine 4 (118), 118ra10-118ra10, 2012
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
SE Calvo, EJ Tucker, AG Compton, DM Kirby, G Crawford, NP Burtt, ...
Nature genetics 42 (10), 851-858, 2010
Leigh syndrome: one disorder, more than 75 monogenic causes
NJ Lake, AG Compton, S Rahman, DR Thorburn
Annals of neurology 79 (2), 190-203, 2016
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome
LG Riley, S Cooper, P Hickey, J Rudinger-Thirion, M McKenzie, ...
The American Journal of Human Genetics 87 (1), 52-59, 2010
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ...
Brain 137 (2), 366-379, 2014
Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation
EJ Tucker, SG Hershman, C Köhrer, CA Belcher-Timme, J Patel, ...
Cell metabolism 14 (3), 428-434, 2011
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
AE Frazier, DR Thorburn, AG Compton
Journal of Biological Chemistry 294 (14), 5386-5395, 2019
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
H Swalwell, DM Kirby, EL Blakely, A Mitchell, R Salemi, C Sugiana, ...
European Journal of Human Genetics 19 (7), 769-775, 2011
Diagnosis and etiology of congenital muscular dystrophy
RA Peat, JM Smith, AG Compton, NL Baker, RA Pace, DJ Burkin, ...
Neurology 71 (5), 312-321, 2008
Limb–girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis
HP Lo, ST Cooper, FJ Evesson, JT Seto, M Chiotis, V Tay, AG Compton, ...
Neuromuscular disorders 18 (1), 34-44, 2008
Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression
EJ Tucker, BFJ Wanschers, R Szklarczyk, HS Mountford, XW Wijeyeratne, ...
PLoS Genet 9 (12), e1004034, 2013
Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes
SC Lim, M Friemel, JE Marum, EJ Tucker, DL Bruno, LG Riley, ...
Human molecular genetics 22 (22), 4460-4473, 2013
Biallelic mutations in MRPS34 lead to instability of the small mitoribosomal subunit and Leigh syndrome
NJ Lake, BD Webb, DA Stroud, TR Richman, B Ruzzenente, AG Compton, ...
The American Journal of Human Genetics 101 (2), 239-254, 2017
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy
AG Compton, DE Albrecht, JT Seto, ST Cooper, B Ilkovski, KJ Jones, ...
The American Journal of Human Genetics 83 (6), 714-724, 2008
Expression of aquaporin 1 in human cardiac and skeletal muscle
CG Au, ST Cooper, HP Lo, AG Compton, N Yang, EM Wintour, KN North, ...
Journal of molecular and cellular cardiology 36 (5), 655-662, 2004
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
R Desai, AE Frazier, R Durigon, H Patel, AW Jones, I Dalla Rosa, NJ Lake, ...
Brain 140 (6), 1595-1610, 2017
Recent advances in the genetics of mitochondrial encephalopathies
EJ Tucker, AG Compton, DR Thorburn
Current neurology and neuroscience reports 10 (4), 277-285, 2010
Next‐generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation
EJ Tucker, M Mimaki, AG Compton, M McKenzie, MT Ryan, DR Thorburn
Human mutation 33 (2), 411-418, 2012
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1
M McKenzie, EJ Tucker, AG Compton, M Lazarou, C George, ...
Journal of molecular biology 414 (3), 413-426, 2011
A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome
SC Lim, KR Smith, DA Stroud, AG Compton, EJ Tucker, A Dasvarma, ...
The American Journal of Human Genetics 94 (2), 209-222, 2014
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