L R Griffiths
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Explore the profile of L R Griffiths including associated specialties, affiliations and a list of published articles.
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102
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Recent Articles
1.
Dunn P, Harvey N, Maksemous N, Smith R, Sutherland H, Haupt L, et al.
Mol Neurobiol
. 2022 Jun;
59(9):5366-5378.
PMID: 35699875
Monogenic forms of cerebral small vessel disease (CSVD) can be caused by both variants in nuclear DNA and mitochondrial DNA (mtDNA). Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is...
2.
Connell J, Benton M, Lea R, Sutherland H, Chaseling J, Haupt L, et al.
Sci Rep
. 2022 Apr;
12(1):6827.
PMID: 35473946
Estimates of mutation rates for various regions of the human mitochondrial genome (mtGenome) vary widely, depending on whether they are inferred using a phylogenetic approach or obtained directly from pedigrees....
3.
Harvey N, Voisin S, Lea R, Yan X, Benton M, Papadimitriou I, et al.
Sci Rep
. 2020 Jul;
10(1):11089.
PMID: 32632177
Mitochondria supply intracellular energy requirements during exercise. Specific mitochondrial haplogroups and mitochondrial genetic variants have been associated with athletic performance, and exercise responses. However, these associations were discovered using underpowered,...
4.
Dunn P, Maksemous N, Smith R, Sutherland H, Haupt L, Griffiths L
Hum Genomics
. 2020 Jan;
14(1):2.
PMID: 31915071
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking genetic diagnostic...
5.
Harvey N, Voisin S, Dunn P, Sutherland H, Yan X, Jacques M, et al.
Mol Genet Genomics
. 2020 Jan;
295(2):515-523.
PMID: 31897802
Adaptation to exercise training is a complex trait that may be influenced by genetic variants. We identified 36 single nucleotide polymorphisms (SNPs) that had been previously associated with endurance or...
6.
Harvey N, Albury C, Stuart S, Benton M, Eccles D, Connell J, et al.
PLoS One
. 2019 Nov;
14(11):e0224847.
PMID: 31730669
The implementation and popularity of next generation sequencing (NGS) has led to the development of various rapid whole mitochondrial genome sequencing techniques. We summarise an efficient and cost-effective NGS approach...
7.
Schwarz N, Bast T, Gaily E, Golla G, Gorman K, Griffiths L, et al.
Eur J Paediatr Neurol
. 2019 Apr;
23(3):438-447.
PMID: 30928199
Background: Pathogenic variants in SCN2A are associated with various neurological disorders including epilepsy, autism spectrum disorder and intellectual disability. Few reports have recently described SCN2A-associated episodic ataxia (EA). Our study...
8.
Benton M, Lea R, Macartney-Coxson D, Bellis C, Carless M, Curran J, et al.
BMC Genet
. 2015 Dec;
16:136.
PMID: 26628212
Background: Located in the Pacific Ocean between Australia and New Zealand, the unique population isolate of Norfolk Island has been shown to exhibit increased prevalence of metabolic disorders (type-2 diabetes,...
9.
Rodriguez-Acevedo A, Ferreira M, Benton M, Carless M, Goring H, Curran J, et al.
Hum Genet
. 2015 Jul;
134(10):1079-87.
PMID: 26220684
Migraine has been defined as a common disabling primary headache disorder. Epidemiology studies have provided with the undeniable evidence of genetic components as active players in the development of the...
10.
Wei L, Menon S, Griffiths L, Gan S
J Hum Hypertens
. 2014 Jul;
29(2):99-104.
PMID: 25055800
Irregular atrial pressure, defective folate and cholesterol metabolism contribute to the pathogenesis of hypertension. However, little is known about the combined roles of the methylenetetrahydrofolate reductase (MTHFR), apolipoprotein-E (ApoE) and...