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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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Regulation of lipid accumulation by AMK-activated kinase in high fat diet–induced kidney injury

Kidney international, 2014-03, Vol.85 (3), p.611-623

2014

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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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Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model

PloS one, 2013-03, Vol.8 (3), p.e57380

2013

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MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Human mutation, 2016-06, Vol.37 (6), p.540-548

2016

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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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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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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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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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Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants

PloS one, 2011-04, Vol.6 (4), p.e17534

2011

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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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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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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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Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Neuromuscular disorders : NMD, 2024-05, Vol.38, p.44-50

2024

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Heteroplasmic ATPase 6 T8993A mutation and mitochondrial disease: A novel mutation present in muscle, blood, saliva, urine and fibroblasts

Mitochondrion, 2013-11, Vol.13 (6), p.929

2013

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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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The purinergic life threat response: Metabolic features

Mitochondrion, 2013-11, Vol.13 (6), p.942-943

2013

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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

Regulation of lipid accumulation by AMK-activated kinase in high fat diet–induced kidney injury

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”

Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

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

Mitochondrial disease patient motivations and barriers to participate in clinical trials

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

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

Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants

Development of a Mitochondrial Myopathy‐Composite Assessment Tool

Response to Newman et al

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

P581: Multiple mitochondrial DNA deletions in patients with myopathy

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

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

Clinical effects of chemical exposures on mitochondrial function

Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Heteroplasmic ATPase 6 T8993A mutation and mitochondrial disease: A novel mutation present in muscle, blood, saliva, urine and fibroblasts

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

The purinergic life threat response: Metabolic features

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