Mitochondrial DNA Copy Number and D-Loop Region Methylation in Carriers of Amyotrophic Lateral Sclerosis Gene Mutations

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

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Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

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The role of mitochondria in amyotrophic lateral sclerosis

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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

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PCR Based Determination of Mitochondrial DNA Copy Number in Multiple Species

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Replication and Transcription of Mammalian Mitochondrial Dna

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Epigenetic Regulation of Motor Neuron Cell Death through DNA Methylation

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Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

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Mutant SOD1 mediated pathogenesis of Amyotrophic Lateral Sclerosis

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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

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Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

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The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

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Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic era

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Altered Mitochondrial DNA Methylation Pattern in Alzheimer Disease–Related Pathology and in Parkinson Disease

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Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

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C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD

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Pathogenesis of amyotrophic lateral sclerosis

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Mitochondrial DNMT3A and DNA methylation in skeletal muscle and CNS of transgenic mouse models of ALS

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Identification of Epigenetically Altered Genes in Sporadic Amyotrophic Lateral Sclerosis

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Mitochondria in Amyotrophic Lateral Sclerosis: A Trigger and a Target

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Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis

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Mitochondria, autophagy and age-associated neurodegenerative diseases: New insights into a complex interplay

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SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments

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Autophagy in Age-Associated Neurodegeneration

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Defective Mitochondrial Dynamics Is an Early Event in Skeletal Muscle of an Amyotrophic Lateral Sclerosis Mouse Model

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Effects of Air Pollution and Blood Mitochondrial DNA Methylation on Markers of Heart Rate Variability

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Decreased Methylation of the Mitochondrial D-Loop Region in Late-Onset Alzheimer’s Disease

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Comparison Study of MS-HRM and Pyrosequencing Techniques for Quantification of APC and CDKN2A Gene Methylation

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Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum

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A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis

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Coupling mitogenesis and mitophagy for longevity

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Superoxide dismutase 1 mutation in a cellular model of amyotrophic lateral sclerosis shifts energy generation from oxidative phosphorylation to glycolysis

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De-methylation of displacement loop of mitochondrial DNA is associated with increased mitochondrial copy number and nicotinamide adenine dinucleotide subunit 2 expression in colorectal cancer

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CHCHD10mutations in Italian patients with sporadic amyotrophic lateral sclerosis: Figure 1

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DNA Methylation—a Potential Source of Mitochondria DNA Base Mismatch in the Development of Diabetic Retinopathy

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Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset

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Mitochondrial dysfunction in blood cells from amyotrophic lateral sclerosis patients

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Increase in DNA methylation in patients with amyotrophic lateral sclerosis carriers of not fully penetrant SOD1 mutations

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Genetic and epigenetic study of ALS-discordant identical twins with double mutations inSOD1andARHGEF28

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Environmental insults: critical triggers for amyotrophic lateral sclerosis

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Methylation of mitochondrial DNA displacement loop region regulates mitochondrial copy number in colorectal cancer

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Epigenetic changes in T‐cell and monocyte signatures and production of neurotoxic cytokines in ALS patients

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Epigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis

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Epigenetic Mechanisms of Gene Regulation in Amyotrophic Lateral Sclerosis

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Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients

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Regional differences in mitochondrial DNA methylation in human post-mortem brain tissue

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Mitochondrial Oxidative Phosphorylation Transcriptome Alterations in Human Amyotrophic Lateral Sclerosis Spinal Cord and Blood

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Mitochondrial Perturbance and Execution of Apoptosis in Platelet Mitochondria of Patients With Amyotrophic Lateral Sclerosis

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Regulating role of fetal thyroid hormones on placental mitochondrial DNA methylation: epidemiological evidence from the ENVIRONAGE birth cohort study

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Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2

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Amyotrophic Lateral Sclerosis With Ragged-Red Fibers

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Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis

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Loss of the antioxidant enzyme CuZnSOD (Sod1) mimics an age-related increase in absolute mitochondrial DNA copy number in the skeletal muscle

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Skeletal muscle mitochondrial DNA deletions are not increased in CuZn-superoxide dismutase deficient mice

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Analysis of Pollutant-Induced Changes in Mitochondrial DNA Methylation

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Mitochondrial and metabolic dysfunction in ageing and age-related diseases

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Mitochondrial DNA Methylation and Human Diseases

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DNA Methylation: A Promising Approach in Management of Alzheimer’s Disease and Other Neurodegenerative Disorders

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Mitoepigenetics and Neurodegenerative Diseases

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The potential role of mitochondria in the microbiota-gut-brain axis: Implications for brain health

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Altered mitochondrial DNA methylation and mitochondrial DNA copy number in an APP/PS1 transgenic mouse model of Alzheimer disease

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Mitochondrial Dysfunction, Neurogenesis, and Epigenetics: Putative Implications for Amyotrophic Lateral Sclerosis Neurodegeneration and Treatment

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Reduced mitochondrial D-loop methylation levels in sporadic amyotrophic lateral sclerosis

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The Role of Epigenetics in Neuroinflammatory-Driven Diseases

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The presymptomatic phase of amyotrophic lateral sclerosis: are we merely scratching the surface?

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Role of Mitochondria in Neurodegenerative Diseases: From an Epigenetic Perspective

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One-carbon epigenetics and redox biology of neurodegeneration

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Emerging roles of mitochondrial functions and epigenetic changes in the modulation of stem cell fate

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Mitochondrial DAMPs: Key mediators in neuroinflammation and neurodegenerative disease pathogenesis

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Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS

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Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms

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Hypermethylation of Mitochondrial Cytochrome b and Cytochrome c Oxidase II Genes with Decreased Mitochondrial DNA Copy Numbers in the APP/PS1 Transgenic Mouse Model of Alzheimer’s Disease

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Mitochondrial D-Loop Region Methylation and Copy Number in Peripheral Blood DNA of Parkinson’s Disease Patients

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mtDNA Maintenance and Alterations in the Pathogenesis of Neurodegenerative Diseases

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Mitochondrial Dyshomeostasis as an Early Hallmark and a Therapeutic Target in Amyotrophic Lateral Sclerosis

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Current Concepts on Genetic Aspects of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis

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Mitochondria: A Promising Convergent Target for the Treatment of Amyotrophic Lateral Sclerosis

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Associations of Peripheral Artery Disease With Calf Skeletal Muscle Mitochondrial DNA Heteroplasmy

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Mitochondrial DNA and Neurodegeneration: Any Role for Dietary Antioxidants?

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Characterization of Mitochondrial DNA Methylation of Alzheimer’s Disease in Plasma Cell-Free DNA

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Additional file 1 of Mitochondrial genome study in blood of maternally inherited ALS cases

Brockmann, S. J., Buck, E., Casoli, T., Meirelles, J. L., Ruf, W. P., Fabbietti, P., Holzmann, K., Weishaupt, J. H., Ludolph, A. C., Conti, F., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23803160

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Additional file 3 of Mitochondrial genome study in blood of maternally inherited ALS cases

Brockmann, S. J., Buck, E., Casoli, T., Meirelles, J. L., Ruf, W. P., Fabbietti, P., Karlheinz, H., Weishaupt, J. H., Ludolph, A. C., Conti, F., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23803166

Additional file 1 of Decreased mitochondrial D-loop region methylation mediates an increase in mitochondrial DNA copy number in CADASIL

Zhang, J., 尚俊奎, Wang, F., Huo, X., Sun, R., Ren, Z., Wang, W., Yang, M., Li, G., Gao, D., et al. (2022) · Figshare · doi:10.6084/m9.figshare.17870239

Additional file 2 of Mitochondrial genome study in blood of maternally inherited ALS cases

Brockmann, S. J., Buck, E., Casoli, T., Meirelles, J. L., Ruf, W. P., Fabbietti, P., Karlheinz, H., Weishaupt, J. H., Ludolph, A. C., Conti, F., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23803163

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Additional file 1 of Reduced mitochondrial D-loop methylation levels in sporadic amyotrophic lateral sclerosis

Stoccoro, A., Smith, A. R., Mosca, L., Marocchi, A., Gerardi, F., Lunetta, C., Cereda, C., Gagliardi, S., Lunnon, K., Migliore, L., et al. (2020) · Figshare · doi:10.6084/m9.figshare.12947920

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