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MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Human mutation, 2019-05, Vol.40 (5), p.499-515

2019

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Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

Annals of neurology, 2020-08, Vol.88 (2), p.218-232

2020

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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Annals of neurology, 2023-10, Vol.94 (4), p.696-712

2023

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Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1700-1711

2021

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Reply to “Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations”

Annals of neurology, 2021-03, Vol.89 (3), p.631-633

2021

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The effects of a motorized passive simulated jogging device on descent of the arterial pulse waveform dicrotic notch: A single arm placebo‐controlled cross‐over trial

Physiological reports, 2022-08, Vol.10 (15), p.e15418-n/a

2022

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Development of a Mitochondrial Myopathy‐Composite Assessment Tool

JCSM clinical reports, 2021-10, Vol.6 (4), p.109-127

2021

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Mitochondrial disease patient motivations and barriers to participate in clinical trials

PloS one, 2018-05, Vol.13 (5), p.e0197513-e0197513

2018

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Metabolic and behavioral features of acute hyperpurinergia and the maternal immune activation mouse model of autism spectrum disorder

PloS one, 2021-03, Vol.16 (3), p.e0248771-e0248771

2021

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Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility

Journal of clinical medicine, 2024-05, Vol.13 (9), p.2634

2024

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Hospitalizations for mitochondrial disease across the lifespan in the U.S

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.119-126

2017

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P581: Multiple mitochondrial DNA deletions in patients with myopathy

Genetics in Medicine Open, 2023, Vol.1 (1), p.100628, Article 100628

2023

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Clinical effects of chemical exposures on mitochondrial function

Toxicology (Amsterdam), 2017-11, Vol.391, p.90-99

2017

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258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Neuromuscular disorders : NMD, 2023-08, Vol.33 (8), p.700-709

2023

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Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease

Current opinion in pediatrics, 2018-12, Vol.30 (6), p.714-724

2018

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Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

Neurology, 2020-02, Vol.94 (7), p.e687

2020

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Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine

Molecular genetics and metabolism, 2024-05, Vol.142 (1), p.108348-108348, Article 108348

2024

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Fatigue in primary genetic mitochondrial disease: No rest for the weary

Neuromuscular disorders : NMD, 2019-11, Vol.29 (11), p.895-902

2019

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MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases: GANETZKY et al

Human mutation, 2019-05, Vol.40 (5), p.499-515

2019

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Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life

Neurotherapeutics, 2023-10, Vol.20 (6), p.1723-1745

2023

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Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

Molecular genetics and metabolism, 2022-11, Vol.137 (3), p.230-238

2022

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MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature

Reply to “Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations”

The effects of a motorized passive simulated jogging device on descent of the arterial pulse waveform dicrotic notch: A single arm placebo‐controlled cross‐over trial

Development of a Mitochondrial Myopathy‐Composite Assessment Tool

Mitochondrial disease patient motivations and barriers to participate in clinical trials

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Metabolic and behavioral features of acute hyperpurinergia and the maternal immune activation mouse model of autism spectrum disorder

Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility

Hospitalizations for mitochondrial disease across the lifespan in the U.S

P581: Multiple mitochondrial DNA deletions in patients with myopathy

Response to Newman et al

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Clinical effects of chemical exposures on mitochondrial function

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine

Fatigue in primary genetic mitochondrial disease: No rest for the weary

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases: GANETZKY et al

Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

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