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Neurodevelopmental Manifestations of Mitochondrial Disease

Journal of developmental and behavioral pediatrics, 2010-09, Vol.31 (7), p.610-621

Falk, Marni J.

2010

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

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

2015

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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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Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

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

2018

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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 patient motivations and barriers to participate in clinical trials

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

2018

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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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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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Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

Journal of medical genetics, 2019-03, Vol.56 (3), p.123-130

2019

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A modern approach to the treatment of mitochondrial disease

Current treatment options in neurology, 2009-11, Vol.11 (6), p.414-430

2009

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Mitochondrial disease: a practical approach for primary care physicians

Pediatrics (Evanston), 2007-12, Vol.120 (6), p.1326-1333

2007

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Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease

Human molecular genetics, 2015-09, Vol.24 (17), p.4829-4847

2015

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HIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction

Frontiers in physiology, 2019-06, Vol.10, p.699-699

2019

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Risk factors for poor bone health in primary mitochondrial disease

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.673-683

2017

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Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier

Bioinformatics, 2015-04, Vol.31 (8), p.1310-1312

2015

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The in-depth evaluation of suspected mitochondrial disease

Molecular genetics and metabolism, 2008-05, Vol.94 (1), p.16-37

2008

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Long‐Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes

Journal of the American Heart Association, 2024-07, Vol.13 (14), p.e033485

2024

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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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Neurodevelopmental Manifestations of Mitochondrial Disease

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

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

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

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

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases

Mitochondrial disease patient motivations and barriers to participate in clinical trials

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

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

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

Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

A modern approach to the treatment of mitochondrial disease

Mitochondrial disease: a practical approach for primary care physicians

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease

HIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction

Risk factors for poor bone health in primary mitochondrial disease

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier

The in-depth evaluation of suspected mitochondrial disease

Long‐Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes

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

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