List of works - Marni Falk

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

scientific article published on 2 February 2018

A modern approach to the treatment of mitochondrial disease

scientific article

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

scientific article published on 07 March 2016

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

scientific article

Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases

scientific article (publication date: 2010)

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

scientific article published on August 2017

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

scientific article

Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair.

scientific article published on 23 March 2016

Clinical effects of chemical exposures on mitochondrial function.

scientific article published on 27 July 2017

Cohen Syndrome

scientific article

Cohen syndrome in the Ohio Amish

scientific article published in July 2004

Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease

scientific article published on 01 May 2021

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

scientific article

Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.

scientific article

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

scientific article published on 5 June 2015

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

scientific article published on 11 December 2014

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

scientific article published on 16 March 2016

Endocrine Disorders in Primary Mitochondrial Disease.

scientific article published on 19 February 2018

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

scientific article

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

scientific article published on 4 October 2017

FGFR-Related Craniosynostosis Syndromes

scientific article

Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease

scientific article

Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.

scientific article published on January 2012

From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.

scientific article published on May 2016

High-throughput BioSorter quantification of relative mitochondrial content and membrane potential in living Caenorhabditis elegans.

scientific article

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

scientific article published on 19 April 2017

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.

scientific article published on 27 December 2013

Influence of nanoporosity on the nature of hydroxyapatite formed on bioactive calcium silicate model glass

scientific article published on 29 September 2018

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.

scientific article published on 3 June 2015

Innovative genomic collaboration using the GENESIS (GEM.app) platform

scientific article

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

scientific article

Integrative analysis of independent transcriptome data for rare diseases

scientific article

International Paediatric Mitochondrial Disease Scale

scientific article

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

scientific article published on 30 September 2015

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta

scientific article

Introduction: Emerging research in mitochondrial disease.

scientific article published in January 2010

Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

scientific article published on 31 December 2020

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 24 September 2018

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

scientific article published on 01 February 2019

Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.

scientific article

Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases

scientific article published in May 2014

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

scientific journal article

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

scientific article published on 14 March 2018

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

scientific article published on 26 February 2016

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

scientific article published on 04 March 2019

Maternal uniparental disomy chromosome 14: case report and literature review.

scientific article

Medical Geneticists' duty to warn at-risk relatives for genetic disease

scientific article published on 01 July 2003

Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.

scientific article published on 21 February 2008

Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine.

scientific article

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

scientific article published on 10 July 2015

Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans

scientific article

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

scientific article (publication date: March 2015)

Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies

article

Mitochondrial Genomics: A complex field now coming of age

scientific article published on 02 May 2018

Mitochondrial Replacement Techniques--Implications for the Clinical Community

scientific article published on 24 February 2016

Mitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans.

scientific article published on August 2006

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome

scientific article

Mitochondrial disease patient motivations and barriers to participate in clinical trials.

scientific article

Mitochondrial disease: a practical approach for primary care physicians.

scientific article

Mitochondrial disorders and the eye ⬇️

scientific article published on 01 September 2011

Mitochondrial function requires NGLY1.

scientific article published on 24 July 2017

Mitochondrial genetic diseases.

scientific article published on December 2010

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

scientific article

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites

scientific article published on 19 July 2013

Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans.

scientific article

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

scientific article published on 03 September 2019

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

scientific article published on February 2012

Molecular genetic testing for mitochondrial disease: from one generation to the next

scientific article published on April 2013

Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans

scientific article published on January 2012

Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders

scientific article (publication date: 3 November 2016)

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

scientific article

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

scientific article

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

scientific article

N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease

scientific article published on 23 February 2018

NMNAT1 mutations cause Leber congenital amaurosis

scientific article

Neurodevelopmental manifestations of mitochondrial disease.

scientific article published on September 2010

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.

scientific article published on 3 November 2017

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

scientific article published on 20 September 2016

Optical reversal of halothane-induced immobility in C. elegans

scientific article

PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic C. Elegans And Improves GLP-1 Secretion in Human Cells.

scientific article published in February 2018

Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.

scientific article published on October 2011

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

scientific article

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

scientific article

Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.

scientific article published on 3 March 2015

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

scientific article

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges

scientific article

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

scientific article published on 21 September 2013

Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease

scientific article published on 01 June 2019

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

scientific article published on 11 July 2013

Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease

scientific article

Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network

scientific article (publication date: 2013)

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice

scientific article

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism

scientific article published on 14 July 2006

Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism

scientific article

Response to Newman et al.

scientific article

Risk factors for poor bone health in primary mitochondrial disease.

scientific article

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

scientific article published on 02 January 2020

Stable isotopic profiling of intermediary metabolic flux in developing and adult stage Caenorhabditis elegans

scientific article

Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.

scientific article

The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders

scientific article published on 07 May 2020

The Pursuit of Precision Mitochondrial Medicine: Harnessing pre-clinical cellular and animal models to optimize mitochondrial disease therapeutic discovery

scientific article published on 02 October 2020

The circadian gene Rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress

scientific article published on 05 February 2016

The in-depth evaluation of suspected mitochondrial disease

scientific article

The primary care physician's approach to congenital anomalies.

scientific article published in September 2004

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

scholarly article by Emanuele Barca published in October 2018

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

scientific article published on 31 January 2012

List of works by Marni Falk

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

A modern approach to the treatment of mitochondrial disease

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases

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

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

Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair.

Clinical effects of chemical exposures on mitochondrial function.

Cohen Syndrome

Cohen syndrome in the Ohio Amish

Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.

Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

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

Diagnosis of 'possible' mitochondrial disease: an existential crisis

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Endocrine Disorders in Primary Mitochondrial Disease.

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

FGFR-Related Craniosynostosis Syndromes

Flunarizine rescues reduced lifespan in CLN3 triple knock-out Caenorhabditis elegans model of batten disease

Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.

From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.

High-throughput BioSorter quantification of relative mitochondrial content and membrane potential in living Caenorhabditis elegans.

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

In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.

Influence of nanoporosity on the nature of hydroxyapatite formed on bioactive calcium silicate model glass

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.

Innovative genomic collaboration using the GENESIS (GEM.app) platform

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

Integrative analysis of independent transcriptome data for rare diseases

International Paediatric Mitochondrial Disease Scale

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta

Introduction: Emerging research in mitochondrial disease.

Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.

Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

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

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

Maternal uniparental disomy chromosome 14: case report and literature review.

Medical Geneticists' duty to warn at-risk relatives for genetic disease

Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.

Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine.

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

Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies

Mitochondrial Genomics: A complex field now coming of age

Mitochondrial Replacement Techniques--Implications for the Clinical Community

Mitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans.

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome

Mitochondrial disease patient motivations and barriers to participate in clinical trials.

Mitochondrial disease: a practical approach for primary care physicians.

Mitochondrial disorders and the eye ⬇️

Mitochondrial function requires NGLY1.

Mitochondrial genetic diseases.

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites

Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans.

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

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Molecular genetic testing for mitochondrial disease: from one generation to the next

Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans

Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

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

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease

NMNAT1 mutations cause Leber congenital amaurosis

Neurodevelopmental manifestations of mitochondrial disease.

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.