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Plasma GDF-15 concentration is not elevated in open-angle glaucoma

PloS one, 2021-05, Vol.16 (5), p.e0252630-e0252630

2021

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Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight

Nature communications, 2024-02, Vol.15 (1), p.1232-1232, Article 1232

2024

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

Molecular genetics and metabolism, 2016-03, Vol.117 (3), p.300-312

2016

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Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

Human molecular genetics, 2010-04, Vol.19 (8), p.1399-1412

2010

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Lead-exposure associated miRNAs in humans and Alzheimer’s disease as potential biomarkers of the disease and disease processes

Scientific reports, 2022-09, Vol.12 (1), p.15966-15966, Article 15966

2022

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Spinning Disk Confocal Microscopy for Optimized and Quantified Live Imaging of 3D Mitochondrial Network

International journal of molecular sciences, 2024-05, Vol.25 (9), p.4819

2024

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Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

PloS one, 2020-09, Vol.15 (9), p.e0238467

2020

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Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing

Human reproduction update, 2015-09, Vol.21 (5), p.671-689

2015

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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

American journal of human genetics, 2007-08, Vol.81 (2), p.228-233

2007

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Human Wharton's Jelly-Derived Stem Cells Display a Distinct Immunomodulatory and Proregenerative Transcriptional Signature Compared to Bone Marrow-Derived Stem Cells

Stem cells and development, 2018-01, Vol.27 (2), p.65

2018

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Myelin-derived lipids modulate macrophage activity by liver X receptor activation

PloS one, 2012-09, Vol.7 (9), p.e44998-e44998

2012

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Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Human reproduction (Oxford), 2018-07, Vol.33 (7), p.1331-1341

2018

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Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies

International journal of molecular sciences, 2023-05, Vol.24 (9), p.8278

2023

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Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Human molecular genetics, 2016-03, Vol.25 (5), p.1031-1041

2016

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A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer

Breast cancer research : BCR, 2013-04, Vol.15 (2), p.R29-R29, Article R29

2013

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Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

Annals of the New York Academy of Sciences, 2015-09, Vol.1350 (1), p.29-36

2015

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Preventing the transmission of mitochondrial DNA disorders: selecting the good guys or kicking out the bad guys

Reproductive biomedicine online, 2013-12, Vol.27 (6), p.599-610

Smeets, Hubert J.M

2013

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Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases

International journal of molecular sciences, 2024-07, Vol.25 (13), p.7248

2024

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Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

International journal of molecular sciences, 2022-11, Vol.23 (22), p.14095

2022

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Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.956-962

2020

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De novo mtDNA point mutations are common and have a low recurrence risk

Journal of medical genetics, 2017-02, Vol.54 (2), p.73

2017

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Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy

International journal of molecular sciences, 2022-06, Vol.23 (13), p.7190

2022

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

Frontiers in cell and developmental biology, 2020-06, Vol.8, p.381-381

2020

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

Brain (London, England : 1878), 2011, Vol.134 (Pt 1), p.210-219

2011

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Plasma GDF-15 concentration is not elevated in open-angle glaucoma

Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight

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

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

Lead-exposure associated miRNAs in humans and Alzheimer’s disease as potential biomarkers of the disease and disease processes

Spinning Disk Confocal Microscopy for Optimized and Quantified Live Imaging of 3D Mitochondrial Network

Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing

Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

Human Wharton's Jelly-Derived Stem Cells Display a Distinct Immunomodulatory and Proregenerative Transcriptional Signature Compared to Bone Marrow-Derived Stem Cells

Myelin-derived lipids modulate macrophage activity by liver X receptor activation

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

A randomised controlled phase II trial of pre-operative celecoxib treatment reveals anti-tumour transcriptional response in primary breast cancer

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis

Preventing the transmission of mitochondrial DNA disorders: selecting the good guys or kicking out the bad guys

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases

Peripheral Ion Channel Genes Screening in Painful Small Fiber Neuropathy

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

De novo mtDNA point mutations are common and have a low recurrence risk

Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy

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

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

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans

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