about
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyNMNAT1 mutations cause Leber congenital amaurosisMitochondrial 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 communitiesInternational Paediatric Mitochondrial Disease ScalePrimary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling networkMitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans.Integrative analysis of independent transcriptome data for rare diseasesSubcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans.The in-depth evaluation of suspected mitochondrial diseaseIntegrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction.Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy.Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegansMitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription.AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.Mitochondrial disease: a practical approach for primary care physicians.Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice.The primary care physician's approach to congenital anomalies.Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease.Maternal uniparental disomy chromosome 14: case report and literature review.Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant miceCommon data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.Mitochondrial genetic diseases.Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines.Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.Molecular genetic testing for mitochondrial disease: from one generation to the nextMitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans.From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.The circadian gene Rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress.Mitochondrial Replacement Techniques--Implications for the Clinical Community.A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionPrevalence of rare mitochondrial DNA mutations in mitochondrial disordersDiagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans.Neurodevelopmental manifestations of mitochondrial disease.Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Marni J Falk
@ast
Marni J Falk
@en
Marni J Falk
@es
Marni J Falk
@nl
type
label
Marni J Falk
@ast
Marni J Falk
@en
Marni J Falk
@es
Marni J Falk
@nl
altLabel
Marni Falk
@en
prefLabel
Marni J Falk
@ast
Marni J Falk
@en
Marni J Falk
@es
Marni J Falk
@nl
P106
P31
P496
0000-0002-1723-6728