Lista de obras - Marni J Falk - Dominio Público Uruguay

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

artículo científico publicado en 2018

A modern approach to the treatment of mitochondrial disease

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Clinical effects of chemical exposures on mitochondrial function.

artículo científico publicado en 2017

Cohen Syndrome

artículo científico publicado en 1993

Cohen syndrome in the Ohio Amish

artículo científico publicado en 2004

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2016

Endocrine Disorders in Primary Mitochondrial Disease.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

FGFR-Related Craniosynostosis Syndromes

artículo científico publicado en 1993

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2018

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Integrative analysis of independent transcriptome data for rare diseases

artículo científico publicado en 2014

International Paediatric Mitochondrial Disease Scale

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta

artículo científico publicado en 2003

Introduction: Emerging research in mitochondrial disease.

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies

artículo científico publicado en 2019

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

artículo científico publicado en 2010

Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

article

Mitochondrial Genomics: A complex field now coming of age

artículo científico publicado en 2018

Mitochondrial Replacement Techniques--Implications for the Clinical Community

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

Mitochondrial disease: a practical approach for primary care physicians.

artículo científico publicado en 2007

Mitochondrial disorders and the eye ⬇️

artículo científico publicado en 2011

Mitochondrial function requires NGLY1.

artículo científico publicado en 2017

Mitochondrial genetic diseases.

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

NMNAT1 mutations cause Leber congenital amaurosis

artículo científico publicado en 2012

Neurodevelopmental manifestations of mitochondrial disease.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Optical reversal of halothane-induced immobility in C. elegans

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

Response to Newman et al.

artículo científico publicado en 2017

Risk factors for poor bone health in primary mitochondrial disease.

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2011

Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.

artículo científico publicado en 2009

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

The in-depth evaluation of suspected mitochondrial disease

artículo científico publicado en 2008

The primary care physician's approach to congenital anomalies.

artículo científico publicado en 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.

artículo científico publicado en 2012

Lista de obras de Marni J 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.