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List of works by Gavin Hudson

A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization

scientific article

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

scientific article

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

scientific article published on 31 January 2019

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

scientific article published on 28 January 2005

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

scientific article

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

scientific article published on 19 April 2018

Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD study

scientific article published on 20 December 2013

Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment

scientific article published on 18 February 2020

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

scientific article

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

scientific article

Epigenetics, epidemiology and mitochondrial DNA diseases ⬇️

scientific article published on January 28, 2012

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

scientific article published on 14 May 2015

Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old.

scientific article published on 30 April 2013

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome

scientific article

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

scientific article published on May 2009

Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease

scientific article

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

scientific article

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

scientific article

Inherited mitochondrial optic neuropathies

scientific article

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

scientific article

Mitochondrial DNA and traumatic brain injury

scientific article

Mitochondrial DNA polymerase-gamma and human disease

scientific article

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

Multi-system neurological disease is common in patients with OPA1 mutations

scientific article

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

scientific article

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

scientific article

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

scientific article published on 01 April 2007

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

scientific article

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

scientific article

No evidence of substantia nigra telomere shortening in Parkinson's disease

scientific article

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

scientific article published on 27 May 2008

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

scientific article published on 01 November 2008

OPA1 increases the risk of normal but not high tension glaucoma

scientific article published on 5 July 2009

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease

scientific article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Quality of life in patients with leber hereditary optic neuropathy

scientific article

Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy

scientific article

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases

scientific article

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease

scientific article published on 7 September 2015

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

scientific article published on 5 November 2015

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

scientific article published on 10 December 2015

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

scientific article

Somatic mtDNA variation is an important component of Parkinson's disease

scientific article published on 6 November 2015

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

scientific article

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

scientific article published on 03 May 2013

Unique mitochondrial DNA in highly inbred feral cattle

scientific article (publication date: July 2012)

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

scientific article published in May 2018

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.

scientific article

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

scientific article

Variation in complement protein C1q is not a major contributor to cognitive impairment in Parkinson's disease.

scientific article published on 26 March 2015

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

scientific article

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

scientific article

metabolic profiling of Parkinson's disease and mild cognitive impairment

scientific article

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