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Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA

Human mutation, 2006-11, Vol.27 (11), p.1072-1081

2006

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Effect of mitochondrial haplogroups on ranibizumab response in neovascular age‐related macular degeneration patients: a pilot study

Acta ophthalmologica (Oxford, England), 2019-02, Vol.97 (1), p.e133-e134

2019

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Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

Clinical genetics, 2022-10, Vol.102 (4), p.339-344

2022

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Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

Clinical genetics, 2020-05, Vol.97 (5), p.731-735

2020

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MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences

Human mutation, 2009, Vol.30 (1), p.1-6

2009

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Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

Human molecular genetics, 2010-09, Vol.19 (17), p.3343-3353

2010

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Mitochondrial Genetic Background May Impact Statins Side Effects and Atherosclerosis Development in Familial Hypercholesterolemia

International journal of molecular sciences, 2022-12, Vol.24 (1), p.471

2022

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Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups

Annals of human genetics, 2005-01, Vol.69 (1), p.67-89

2005

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Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA

Science (American Association for the Advancement of Science), 2004-01, Vol.303 (5655), p.223-226

2004

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mtDNA Mutations Increase Tumorigenicity in Prostate Cancer

Proceedings of the National Academy of Sciences - PNAS, 2005-01, Vol.102 (3), p.719-724

2005

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A Mitochondrial Etiology of Neurodegenerative Diseases: Evidence from Parkinson's Disease

Annals of the New York Academy of Sciences, 2008-12, Vol.1147 (1), p.1-20

2008

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Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-316, Article 316

2022

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Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.150-150, Article 150

2019

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Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

Biochimica et biophysica acta, 2012-08, Vol.1822 (8), p.1216-1222

2012

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Down syndrome is an oxidative phosphorylation disorder

Redox biology, 2021-05, Vol.41, p.101871, Article 101871

2021

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Influence of mitochondrial haplogroups in response to ranibizumab teraphy in neovascular age‐related macular degeneration

Acta ophthalmologica (Oxford, England), 2019-12, Vol.97 (S263), p.n/a

2019

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Natural Selection Shaped Regional mtDNA Variation in Humans

Proceedings of the National Academy of Sciences - PNAS, 2003-01, Vol.100 (1), p.171-176

2003

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Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.148-148, Article 148

2024

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Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

Stem cell research, 2022-03, Vol.59, p.102632-102632, Article 102632

2022

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Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Molecular genetics and metabolism, 2019-03, Vol.126 (3), p.250-258

2019

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Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1147-1158

2018

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Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

International journal of molecular sciences, 2020-05, Vol.21 (9), p.3374

2020

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Pathological Features in Paediatric Patients with TK2 Deficiency

International journal of molecular sciences, 2022-10, Vol.23 (19), p.11002

2022

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Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome

Disease models & mechanisms, 2022-03, Vol.15 (3)

2022

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Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA

Effect of mitochondrial haplogroups on ranibizumab response in neovascular age‐related macular degeneration patients: a pilot study

Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

Mitochondrial Genetic Background May Impact Statins Side Effects and Atherosclerosis Development in Familial Hypercholesterolemia

Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of Native American Haplogroups

Effects of Purifying and Adaptive Selection on Regional Variation in Human mtDNA

mtDNA Mutations Increase Tumorigenicity in Prostate Cancer

A Mitochondrial Etiology of Neurodegenerative Diseases: Evidence from Parkinson's Disease

Is population frequency a useful criterion to assign pathogenicity to newly described mitochondrial DNA variants?

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

Down syndrome is an oxidative phosphorylation disorder

Influence of mitochondrial haplogroups in response to ranibizumab teraphy in neovascular age‐related macular degeneration

Natural Selection Shaped Regional mtDNA Variation in Humans

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree

Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

Pathological Features in Paediatric Patients with TK2 Deficiency

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome

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