List of works - Mike Gerards

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1

scientific article published on 22 January 2019

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

scientific article

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

scientific article

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

scientific article

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

scientific article

Manipulating mtDNA in vivo reprograms metabolism via novel response mechanisms

scientific article published on 04 October 2019

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

scientific article

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

scientific article published on 22 July 2015

RNase H1 promotes replication fork progression through oppositely transcribed regions of mitochondrial DNA

scientific article published on 11 January 2019

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.

scientific article published on 21 October 2016

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

scientific article published on 30 May 2014

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

article

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

scientific article published on 18 October 2017

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

scientific article

Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

scientific article published on 12 June 2020

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

article by Tom E J Theunissen et al published 2018 in Frontiers in Genetics

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes

scientific article published on 26 January 2007

List of works by Mike Gerards

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1

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

Differences in Strength and Timing of the mtDNA Bottleneck between Zebrafish Germline and Non-germline Cells

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

Manipulating mtDNA in vivo reprograms metabolism via novel response mechanisms

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

RNase H1 promotes replication fork progression through oppositely transcribed regions of mitochondrial DNA

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Tfam Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes