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The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery

Journal of inherited metabolic disease, 2021-03, Vol.44 (2), p.312-324

Falk, Marni J.

2021

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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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Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

Human mutation, 2015-10, Vol.36 (10), p.950-956

2015

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8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease

Molecular genetics and metabolism, 2018-03, Vol.123 (3), p.301-308

2018

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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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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Genetics in medicine, 2015-09, Vol.17 (9), p.689-701

2015

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Mitochondrial Disease Genes Compendium: From Genes to Clinical Manifestations

Falk, Marni J

1, 2020

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Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines

Current opinion in pediatrics, 2020-12, Vol.32 (6), p.707-718

2020

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MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases

Molecular therapy, 2015-10, Vol.23 (10), p.1592-1599

2015

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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Human mutation, 2020-12, Vol.41 (12), p.2028-2057

2020

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GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

American journal of human genetics, 2016-10, Vol.99 (4), p.802-816

2016

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Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases

Cell reports (Cambridge), 2014-05, Vol.7 (4), p.935-937

2014

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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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Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

Neurotherapeutics, 2013-04, Vol.10 (2), p.251-261

2013

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Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

Neurochemistry international, 2018-07, Vol.117, p.23-34

2018

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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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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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Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction

The international journal of biochemistry & cell biology, 2014-05, Vol.50, p.106-111

2014

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Human Placental Transcriptome Reveals Critical Alterations in Inflammation and Energy Metabolism with Fetal Sex Differences in Spontaneous Preterm Birth

International journal of molecular sciences, 2021-07, Vol.22 (15), p.7899

2021

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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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MSeqDR Quick‐Mitome (QM): Combining Phenotype‐Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis

Current protocols, 2024-01, Vol.4 (1), p.e955-n/a

2024

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Mitochondrial Replacement Techniques — Implications for the Clinical Community

The New England journal of medicine, 2016-03, Vol.374 (12), p.1103-1106

2016

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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Human molecular genetics, 2015-01, Vol.24 (1), p.230-242

2015

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Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Cancer research (Chicago, Ill.), 2019-04, Vol.79 (7), p.1318-1330

2019

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The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery

Clinical effects of chemical exposures on mitochondrial function

Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform

8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease

Mitochondrial disease patient motivations and barriers to participate in clinical trials

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Mitochondrial Disease Genes Compendium: From Genes to Clinical Manifestations

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines

MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases

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

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

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

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes

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

Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction

Human Placental Transcriptome Reveals Critical Alterations in Inflammation and Energy Metabolism with Fetal Sex Differences in Spontaneous Preterm Birth

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

MSeqDR Quick‐Mitome (QM): Combining Phenotype‐Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis

Mitochondrial Replacement Techniques — Implications for the Clinical Community

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

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