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Applying genomic and transcriptomic advances to mitochondrial medicine

Nature reviews. Neurology, 2021-04, Vol.17 (4), p.215-230

2021

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Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation

Nature communications, 2021-11, Vol.12 (1), p.6409-6409, Article 6409

2021

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Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications

Nature reviews. Genetics, 2021-09, Vol.22 (9), p.547-548

2021

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2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

Nature communications, 2021-12, Vol.12 (1), p.6997-6997, Article 6997

2021

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A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

PloS one, 2016-01, Vol.11 (1), p.e0145500

2016

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Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports

BMC nephrology, 2020-08, Vol.21 (1), p.361-361, Article 361

2020

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Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges

Nature reviews. Neurology, 2022-11, Vol.18 (11), p.689-698

2022

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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Brain (London, England : 1878), 2012-11, Vol.135 (Pt 11), p.3392-3403

2012

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Acceptability of Audiovestibular Assessment in the Home—A Patient Survey

Audiology research (Pavia, Italy), 2024-06, Vol.14 (3), p.545-553

2024

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Moving towards clinical trials for mitochondrial diseases

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.22-41

2021

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Drug repurposing in neurological diseases: an integrated approach to reduce trial and error

Journal of neurology, neurosurgery and psychiatry, 2019-11, Vol.90 (11), p.1270-1275

2019

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Extra-ocular muscle MRI in genetically-defined mitochondrial disease

European radiology, 2016, Vol.26 (1), p.130-137

2016

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A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease

European journal of neurology, 2024-05, Vol.31 (5), p.e16216

2024

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Self-reported postural symptoms predict vestibular dysfunction and falls in patients with multi-sensory impairment

Journal of neurology, 2022-05, Vol.269 (5), p.2788-2791

2022

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Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

EMBO molecular medicine, 2016-11, Vol.8 (11), p.1231-1233

2016

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Correction to: Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus

Journal of neurology, 2023-08, Vol.270 (8), p.4156-4156

2023

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Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus

Journal of neurology, 2023-06, Vol.270 (6), p.3252-3257

2023

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Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Journal of molecular neuroscience, 2020-12, Vol.70 (12), p.1962-1965

2020

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Mitochondrial Extrapyramidal Syndromes: Using Age and Phenomenology to Guide Genetic Testing

JAMA neurology, 2016-06, Vol.73 (6), p.630

Pitceathly, Robert D S

2016

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Interventions for dysphagia in long-term, progressive muscle disease

Cochrane database of systematic reviews, 2016-02, Vol.2 (2), p.CD004303

2016

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Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

Proceedings of the National Academy of Sciences - PNAS, 2016-07, Vol.113 (30), p.E4276-E4285

2016

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Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

Brain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.3200-3212

2014

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Mitochondrial myopathies in adults and children: management and therapy development

Current opinion in neurology, 2014-10, Vol.27 (5), p.576-582

2014

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Consensus-based statements for the management of mitochondrial stroke-like episodes

Wellcome open research, 2019, Vol.4, p.201-201

2019

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Applying genomic and transcriptomic advances to mitochondrial medicine

Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation

Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications

2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports

Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Acceptability of Audiovestibular Assessment in the Home—A Patient Survey

Moving towards clinical trials for mitochondrial diseases

Drug repurposing in neurological diseases: an integrated approach to reduce trial and error

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease

Self-reported postural symptoms predict vestibular dysfunction and falls in patients with multi-sensory impairment

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

Correction to: Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus

Development of a diagnostic framework for vestibular causes of dizziness and unsteadiness in patients with multisensory neurological disease: a Delphi consensus

Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures

Mitochondrial Extrapyramidal Syndromes: Using Age and Phenomenology to Guide Genetic Testing

Interventions for dysphagia in long-term, progressive muscle disease

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Mitochondrial myopathies in adults and children: management and therapy development

Consensus-based statements for the management of mitochondrial stroke-like episodes

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