User profiles for G. S. Gorman
Grainne S GormanWellcome Trust Centre for Mitochondrial Research, ION, Newcastle University Verified email at ncl.ac.uk Cited by 9221 |
Mitochondrial diseases
GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
… 3243A>G mutation 12 . Thus, a substantial number of patients with … 3243A>G mutation in
MT-TL1 can also give rise to other … 8344A>G) 79 account for the genetic aetiology of the vast …
MT-TL1 can also give rise to other … 8344A>G) 79 account for the genetic aetiology of the vast …
[PDF][PDF] Mitochondrial diseases: hope for the future
… 3243A > G mitochondrial disorders treated with KH176 for 28 days, reported no serious
treatment-emergent adverse events. Although it did not meet its stated primary outcomes, KH176 …
treatment-emergent adverse events. Although it did not meet its stated primary outcomes, KH176 …
Mitochondrial disease in adults: recent advances and future promise
… 3243A→G variant who had experienced recurrent stroke-like episodes since his mid-30s. …
Asymmetrical reduction in dopamine uptake (G) is seen on a dopamine transporter PET scan …
Asymmetrical reduction in dopamine uptake (G) is seen on a dopamine transporter PET scan …
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease
… 3243A>G mutation remains the most prevalent pathogenic … 8344A>G mutation remains a
rare form of mitochondrial … 4300A>G, in whom the index cases were deceased at the time of …
rare form of mitochondrial … 4300A>G, in whom the index cases were deceased at the time of …
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco… - Brain, 2010 - academic.oup.com
Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
…, S Kleinle, AAM Morris, G Vassallo, GS Gorman… - Jama, 2014 - jamanetwork.com
Importance Mitochondrial disorders have emerged as a common cause of inherited disease,
but their diagnosis remains challenging. Multiple respiratory chain complex defects are …
but their diagnosis remains challenging. Multiple respiratory chain complex defects are …
A comparison of the pharmacokinetics of perfluorobutanesulfonate (PFBS) in rats, monkeys, and humans
GW Olsen, SC Chang, PE Noker, GS Gorman… - Toxicology, 2009 - Elsevier
… Samples were allowed to thaw, and approximately 0.2 g of liver was weighed and …
After the primary homogenization step, the whole homogenate was centrifuged at 2500 × g …
After the primary homogenization step, the whole homogenate was centrifuged at 2500 × g …
mt DNA heteroplasmy level and copy number indicate disease burden in m. 3243A> G mitochondrial disease
…, AA Bright, AM Schaefer, GS Gorman… - EMBO molecular …, 2018 - embopress.org
… G mutation load; we present formulas to adjust for this. Blood is the most highly correlated
mutation measure for disease burden and progression in m.3243A>G-… 3243A>G heteroplasmy …
mutation measure for disease burden and progression in m.3243A>G-… 3243A>G heteroplasmy …
[HTML][HTML] The spectrum of mitochondrial ultrastructural defects in mitochondrial myopathy
…, C Feeney, AM Schaefer, R McFarland, GS Gorman… - Scientific reports, 2016 - nature.com
… 8344A>G mutation we observed several mitochondria devoid of normal cristae and crista
junctions (CJs), but with abnormal “onion-like” concentric membranes free of fenestration (Fig. …
junctions (CJs), but with abnormal “onion-like” concentric membranes free of fenestration (Fig. …
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance
… sequencing achieved using a Roche 454 GS Titanium FLX platform as previously described
(… 3C>T (g.19571C>T, predicted to remove a splice site before exon 2), and c.1067C>T; p.…
(… 3C>T (g.19571C>T, predicted to remove a splice site before exon 2), and c.1067C>T; p.…