Works matching AU Poulton, Joanna
Results: 51
Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease.
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- Human Mutation, 2013, v. 34, n. 9, p. 1260, doi. 10.1002/humu.22358
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- Article
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.
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- 2016
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- Publication type:
- journal article
The Effect of Photobiomodulation on the Treatment of Hereditary Mitochondrial Diseases.
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- Journal of Lasers in Medical Sciences, 2023, v. 14, p. 1, doi. 10.34172/jlms.2023.41
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- Article
The Mitochondrion-lysosome Axis in Adaptive and Innate Immunity: Effect of Lupus Regulator Peptide P140 on Mitochondria Autophagy and NETosis.
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- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02158
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- Article
Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years.
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- 2007
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- Publication type:
- journal article
Metabolic rescue in pluripotent cells from patients with mtDNA disease.
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- Nature, 2015, v. 524, n. 7564, p. 234, doi. 10.1038/nature14546
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- Article
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4905, doi. 10.1093/hmg/ddp458
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- Article
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
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- Human Molecular Genetics, 2008, v. 17, n. 16, p. 2496, doi. 10.1093/hmg/ddn150
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- Article
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
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- Human Molecular Genetics, 2007, v. 16, n. 12, p. 1400, doi. 10.1093/hmg/ddm090
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- Article
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
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- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3219, doi. 10.1093/hmg/ddh342
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- Article
Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case–control study.
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- Human Molecular Genetics, 2002, v. 11, n. 13, p. 1581, doi. 10.1093/hmg/11.13.1581
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- Article
Mitochondrial content is central to nuclear gene expression: Profound implications for human health.
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- BioEssays, 2016, v. 38, n. 2, p. 150, doi. 10.1002/bies.201500105
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- Article
Duplications of mitochondrial DNA in Kearns-Sayre syndrome.
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S154, doi. 10.1002/mus.880181430
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- Article
Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse?
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- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0130631
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- Publication type:
- Article
Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations.
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- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04797-2
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- Article
A national perspective on prenatal testing for mitochondrial disease.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35
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- Article
Mosaicism for mitochondrial DNA polymorphic variants in placenta has implications for the feasibility of prenatal diagnosis in mtDNA diseases.
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- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 816, doi. 10.1038/sj.ejhg.5201618
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- Article
The dangers of extended PCR in the clinic.
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- Nature Medicine, 1999, v. 5, n. 9, p. 965, doi. 10.1038/12379
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- Article
Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease.
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- Nature Medicine, 1999, v. 5, n. 8, p. 957, doi. 10.1038/11403
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- Article
Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome.
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- Annals of Neurology, 1999, v. 45, n. 1, p. 54, doi. 10.1002/1531-8249(199901)45:1<54::AID-ART10>3.0.CO;2-B
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- Article
Noninvasive diagnosis of the MELAS syndrome from blood DNA.
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- Annals of Neurology, 1993, v. 34, n. 1, p. 116, doi. 10.1002/ana.410340124
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- Article
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states.
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- Human Molecular Genetics, 2000, v. 9, n. 19, p. 2821, doi. 10.1093/hmg/9.19.2821
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- Article
Do Sequence Variants in the Major Non-Coding Region of the Mitochondrial Genome Influence Mitochondrial Mutations Associated with Disease?
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- Human Molecular Genetics, 1996, v. 5, n. 4, p. 473, doi. 10.1093/hmg/5.4.473
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- Article
Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA in patients with the MELAS phenotype.
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- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1689
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- Article
Are duplications of mitochondrial DNA characteristic of Kearns—Sayre syndrome?
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- Human Molecular Genetics, 1994, v. 3, n. 6, p. 947
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- Article
Mitochondrial DNA disease and developmental implications for reproductive strategies.
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- Molecular Human Reproduction, 2015, v. 21, n. 1, p. 11, doi. 10.1093/molehr/gau090
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- Article
Correction: Is Placental Mitochondrial Function a Regulator that Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse?
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- 2017
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- Correction Notice
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
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- EMBO Journal, 2020, v. 39, n. 23, p. 1, doi. 10.15252/embj.2020105364
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- Article
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
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- EMBO Molecular Medicine, 2023, v. 15, n. 5, p. 1, doi. 10.15252/emmm.202216775
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- Article
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
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- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200244
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- Article
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
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- Nature Genetics, 2010, v. 42, n. 12, p. 1131, doi. 10.1038/ng.706
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- Article
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
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- Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058
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- Article
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 445, doi. 10.1007/s10545-014-9778-4
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- Article
The Mechanical Disturbance Produced by Steady and Gusty Winds of Moderate Strength: Skilled Performance and Semantic Assessments.
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- Ergonomics, 1975, v. 18, n. 6, p. 651, doi. 10.1080/00140137508931501
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- Publication type:
- Article
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
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- Human Molecular Genetics, 2022, v. 31, n. 12, p. 2049, doi. 10.1093/hmg/ddac002
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- Publication type:
- Article
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.
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- Human Molecular Genetics, 2020, v. 29, n. 9, p. 1547, doi. 10.1093/hmg/ddaa077
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- Article
Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children.
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- Biochemical Society Transactions, 2016, v. 44, n. 4, p. 1091, doi. 10.1042/BST20160095
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- Article
Genetic Counselling for Maternally Inherited Mitochondrial Disorders.
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- Molecular Diagnosis & Therapy, 2017, v. 21, n. 4, p. 419, doi. 10.1007/s40291-017-0279-7
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- Article
Erratum to: Genetic Counselling for Maternally Inherited Mitochondrial Disorders.
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- Molecular Diagnosis & Therapy, 2017, v. 21, n. 4, p. 465, doi. 10.1007/s40291-017-0286-8
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- Publication type:
- Article
Mitochondrial DNA and genetic disease.
- Published in:
- 1993
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- Publication type:
- journal article
Mitophagy plays a central role in mitochondrial ageing.
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- Mammalian Genome, 2016, v. 27, n. 7/8, p. 381, doi. 10.1007/s00335-016-9651-x
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- Publication type:
- Article
Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA.
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- Nucleic Acids Research, 2009, v. 37, n. 7, p. 2327, doi. 10.1093/nar/gkp091
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- Publication type:
- Article
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.
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- PLoS Genetics, 2016, v. 12, n. 1, p. 1, doi. 10.1371/journal.pgen.1005779
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- Publication type:
- Article
The association of the mitochondrial DNA OriB variant (16184-16193 polycytosine tract) with type 2 diabetes in Europid populations.
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- Diabetologia, 2013, v. 56, n. 9, p. 1907, doi. 10.1007/s00125-013-2945-6
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- Article
Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
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- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1260496
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- Article
Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome.
- Published in:
- Frontiers in Cell & Developmental Biology, 2024, p. 1, doi. 10.3389/fcell.2024.1260496
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- Publication type:
- Article
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.
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- Journal of Clinical Medicine, 2019, v. 8, n. 4, p. 457, doi. 10.3390/jcm8040457
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- Publication type:
- Article
Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice.
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- Journal of Clinical Medicine, 2017, v. 6, n. 8, p. 80, doi. 10.3390/jcm6080080
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- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- Published in:
- 2018
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- Publication type:
- journal article
Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features.
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- Epilepsia (Series 4), 2013, v. 54, n. 6, p. 1002, doi. 10.1111/epi.12115
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- Publication type:
- Article