Marni J. Falk Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics The Children’s Hospital of Philadelphia Biography Publications Institution JoVE Articles Marni J. Falk has not added a biography. If you are Marni J. Falk and would like to personalize this page please email our Author Liaison for assistance. Publications Expanding the Genotypic and Phenotypic Spectrum in a Diverse Cohort of 104 Individuals with Wiedemann-Steiner Syndrome American Journal of Medical Genetics. Part A. Mar, 2021 | Pubmed ID: 33783954 Understanding the Phenotypic Spectrum of ASXL-related Disease: Ten Cases and a Review of the Literature American Journal of Medical Genetics. Part A. Mar, 2021 | Pubmed ID: 33751773 Combinatorial Glucose, Nicotinic Acid, and N-acetylcysteine Therapy Has Synergistic Effect in Preclinical C. Elegans and Zebrafish Models of Mitochondrial Complex I Disease Human Molecular Genetics. Feb, 2021 | Pubmed ID: 33640978 Predictors of Outcome in Children with Disorders of Mitochondrial Metabolism in the Pediatric Intensive Care Unit Pediatric Research. Feb, 2021 | Pubmed ID: 33627817 The Pursuit of Precision Mitochondrial Medicine: Harnessing Preclinical Cellular and Animal Models to Optimize Mitochondrial Disease Therapeutic Discovery Journal of Inherited Metabolic Disease. Mar, 2021 | Pubmed ID: 33006762 Correction: KAT6A Syndrome: Genotype-phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants Genetics in Medicine : Official Journal of the American College of Medical Genetics. Nov, 2020 | Pubmed ID: 32814847 Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations Annals of Neurology. 08, 2020 | Pubmed ID: 32445240 Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease Clinics in Laboratory Medicine. 06, 2020 | Pubmed ID: 32439066 Mitochondrial Diseases in North America: An Analysis of the NAMDC Registry Neurology. Genetics. Apr, 2020 | Pubmed ID: 32337332 Safety and Efficacy of Omaveloxolone in Patients with Mitochondrial Myopathy: MOTOR Trial Neurology. 02, 2020 | Pubmed ID: 31896620 De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia American Journal of Human Genetics. 08, 2019 | Pubmed ID: 31353023 HIF-1α Stabilization Increases MiR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction Frontiers in Physiology. 2019 | Pubmed ID: 31263422 Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies Cancer Research. 04, 2019 | Pubmed ID: 30709931 Pre-clinical Evaluation of Cysteamine Bitartrate As a Therapeutic Agent for Mitochondrial Respiratory Chain Disease Human Molecular Genetics. 06, 2019 | Pubmed ID: 30668749 KAT6A Syndrome: Genotype-phenotype Correlation in 76 Patients with Pathogenic KAT6A Variants Genetics in Medicine : Official Journal of the American College of Medical Genetics. 04, 2019 | Pubmed ID: 30245513 Mitochondrial Disease Genetics Update: Recent Insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease Current Opinion in Pediatrics. 12, 2018 | Pubmed ID: 30199403 Mitochondrial Disease Patient Motivations and Barriers to Participate in Clinical Trials PloS One. 2018 | Pubmed ID: 29771953 MSeqDR MvTool: A Mitochondrial DNA Web and API Resource for Comprehensive Variant Annotation, Universal Nomenclature Collation, and Reference Genome Conversion Human Mutation. 06, 2018 | Pubmed ID: 29539190 N-acetylcysteine and Vitamin E Rescue Animal Longevity and Cellular Oxidative Stress in Pre-clinical Models of Mitochondrial Complex I Disease Molecular Genetics and Metabolism. 04, 2018 | Pubmed ID: 29526616 8-year Retrospective Analysis of Intravenous Arginine Therapy for Acute Metabolic Strokes in Pediatric Mitochondrial Disease Molecular Genetics and Metabolism. 03, 2018 | Pubmed ID: 29428506 PARP-1 Inhibition Rescues Short Lifespan in Hyperglycemic And Improves GLP-1 Secretion in Human Cells Aging and Disease. Feb, 2018 | Pubmed ID: 29392078 Propionyl-CoA Carboxylase Pcca-1 and Pccb-1 Gene Deletions in Caenorhabditis Elegans Globally Impair Mitochondrial Energy Metabolism Journal of Inherited Metabolic Disease. 03, 2018 | Pubmed ID: 29159707 Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems Annual Review of Pathology. 01, 2018 | Pubmed ID: 29099651 Mitochondrial Function Requires NGLY1 Mitochondrion. 01, 2018 | Pubmed ID: 28750948 Pharmacologic Modeling of Primary Mitochondrial Respiratory Chain Dysfunction in Zebrafish Neurochemistry International. 07, 2018 | Pubmed ID: 28732770 Response to Newman Et Al Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12, 2017 | Pubmed ID: 29215644 Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome American Journal of Human Genetics. Aug, 2017 | Pubmed ID: 28777931 Clinical Effects of Chemical Exposures on Mitochondrial Function Toxicology. 11, 2017 | Pubmed ID: 28757096 Patient Care Standards for Primary Mitochondrial Disease: a Consensus Statement from the Mitochondrial Medicine Society Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12, 2017 | Pubmed ID: 28749475 Flunarizine Rescues Reduced Lifespan in CLN3 Triple Knock-out Caenorhabditis Elegans Model of Batten Disease Journal of Inherited Metabolic Disease. 03, 2017 | Pubmed ID: 27766444 Muscle Oxidative Phosphorylation Quantitation Using Creatine Chemical Exchange Saturation Transfer (CrCEST) MRI in Mitochondrial Disorders JCI Insight. Nov, 2016 | Pubmed ID: 27812541 Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base Molecular Genetics and Metabolism. 11, 2016 | Pubmed ID: 27665271 GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers American Journal of Human Genetics. Oct, 2016 | Pubmed ID: 27616483 International Paediatric Mitochondrial Disease Scale Journal of Inherited Metabolic Disease. 09, 2016 | Pubmed ID: 27277220 Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy American Journal of Human Genetics. 06, 2016 | Pubmed ID: 27236917 From Case Studies to Community Knowledge Base: MSeqDR Provides a Platform for the Curation and Genomic Analysis of Mitochondrial Diseases Cold Spring Harbor Molecular Case Studies. May, 2016 | Pubmed ID: 27148591 Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function Case Reports in Genetics. 2016 | Pubmed ID: 27069701 A Novel HSD17B10 Mutation Impairing the Activities of the Mitochondrial RNase P Complex Causes X-linked Intractable Epilepsy and Neurodevelopmental Regression RNA Biology. May, 2016 | Pubmed ID: 26950678 MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Human Mutation. 06, 2016 | Pubmed ID: 26919060 Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform Human Mutation. Oct, 2015 | Pubmed ID: 26173844 MitoTALEN: A General Approach to Reduce Mutant MtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases Molecular Therapy : the Journal of the American Society of Gene Therapy. Oct, 2015 | Pubmed ID: 26159306 Desmin Common Mutation is Associated with Multi-systemic Disease Manifestations and Depletion of Mitochondria and Mitochondrial DNA Frontiers in Genetics. 2015 | Pubmed ID: 26097489 Inhibiting Cytosolic Translation and Autophagy Improves Health in Mitochondrial Disease Human Molecular Genetics. Sep, 2015 | Pubmed ID: 26041819 Pharmacologic Targeting of Sirtuin and PPAR Signaling Improves Longevity and Mitochondrial Physiology in Respiratory Chain Complex I Mutant Caenorhabditis Elegans Mitochondrion. May, 2015 | Pubmed ID: 25744875 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 Molecular Genetics and Metabolism. Mar, 2015 | Pubmed ID: 25542617 Phy-Mer: a Novel Alignment-free and Reference-independent Mitochondrial Haplogroup Classifier Bioinformatics (Oxford, England). Apr, 2015 | Pubmed ID: 25505086 Diagnosis and Management of Mitochondrial Disease: a Consensus Statement from the Mitochondrial Medicine Society Genetics in Medicine : Official Journal of the American College of Medical Genetics. Sep, 2015 | Pubmed ID: 25503498 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 Journal of Medical Genetics. Feb, 2015 | Pubmed ID: 25412741 Mutations in IFT172 Cause Isolated Retinal Degeneration and Bardet-Biedl Syndrome Human Molecular Genetics. Jan, 2015 | Pubmed ID: 25168386 Integrative Analysis of Independent Transcriptome Data for Rare Diseases Methods (San Diego, Calif.). Oct, 2014 | Pubmed ID: 24981076 Erratum To: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate JIMD Reports. 2014 | Pubmed ID: 24973975 Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases Cell Reports. May, 2014 | Pubmed ID: 24856294 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. May, 2014 | Pubmed ID: 24569120 Mitochondrial DNA Variant in COX1 Subunit Significantly Alters Energy Metabolism of Geographically Divergent Wild Isolates in Caenorhabditis Elegans Journal of Molecular Biology. May, 2014 | Pubmed ID: 24534730 AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate JIMD Reports. 2014 | Pubmed ID: 24515575 In Vivo Metabolic Flux Profiling with Stable Isotopes Discriminates Sites and Quantifies Effects of Mitochondrial Dysfunction in C. Elegans Molecular Genetics and Metabolism. Mar, 2014 | Pubmed ID: 24445252 Mitochondrial Respiratory Chain Disease Discrimination by Retrospective Cohort Analysis of Blood Metabolites Molecular Genetics and Metabolism. Sep-Oct, 2013 | Pubmed ID: 23920046 Primary Respiratory Chain Disease Causes Tissue-specific Dysregulation of the Global Transcriptome and Nutrient-sensing Signaling Network PloS One. 2013 | Pubmed ID: 23894440 Prevalence of Rare Mitochondrial DNA Mutations in Mitochondrial Disorders Journal of Medical Genetics. Oct, 2013 | Pubmed ID: 23847141 Molecular Genetic Testing for Mitochondrial Disease: from One Generation to the Next Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics. Apr, 2013 | Pubmed ID: 23269497 Mitochondrial Disease Genetic Diagnostics: Optimized Whole-exome Analysis for All MitoCarta Nuclear Genes and the Mitochondrial Genome Discovery Medicine. Dec, 2012 | Pubmed ID: 23272691 NMNAT1 Mutations Cause Leber Congenital Amaurosis Nature Genetics. Sep, 2012 | Pubmed ID: 22842227 Mitochondrial TRNA-serine (AGY) M.C12264T Mutation Causes Severe Multisystem Disease with Cataracts Discovery Medicine. Feb, 2012 | Pubmed ID: 22369973 線虫におけるミトコンドリア機能障害の分子プロファイリング。 Methods in Molecular Biology (Clifton, N.J.). 2012 | Pubmed ID: 22215553 蛍光活性化細胞のミトコンドリアのコンテンツ、膜電位、およびマトリックスのオキシダント負担ヒトリンパ芽球細胞株の解析を選別します。 Methods in Molecular Biology (Clifton, N.J.). 2012 | Pubmed ID: 22215552 PAX2 変異腎コロボーマ症候群と軌跡固有データベース構築の更新。 Human Mutation. Mar, 2012 | Pubmed ID: 22213154 線虫におけるハロタン不動の光学逆転。 Current Biology : CB. Dec, 2011 | Pubmed ID: 22137475 ミトコンドリアのゲノム シーケンス解析: カスタム バイオインフォマティクス パイプラインは、アフィメトリクス MitoChip V2.0 の呼び出し速度と精度が大幅に向上します。 BMC Bioinformatics. 2011 | Pubmed ID: 22011106 パーキンソン病のような神経筋欠損変異マウス プレニル二リン酸合成酵素サブユニット 2 (Pdss2) が発生します。 Mitochondrion. Oct, 2011 | Pubmed ID: 21983691 Mitochondrial Disorders and the Eye Current Opinion in Ophthalmology. Sep, 2011 | Pubmed ID: 21730846 プロブコール プライマリ CoQ 欠乏で Pdss2 遺伝子変異マウスの腎・代謝の後遺症を改善します。 EMBO Molecular Medicine. Jul, 2011 | Pubmed ID: 21567994 ミトコンドリアの遺伝病。 Current Opinion in Pediatrics. Dec, 2010 | Pubmed ID: 21045694 細菌、酵母、ワーム、およびハエ: 人間のミトコンドリアの病気を調査する単純なモデル生物を悪用します。 Developmental Disabilities Research Reviews. Jun, 2010 | Pubmed ID: 20818735 導入: 新たなミトコンドリア病の研究。 Developmental Disabilities Research Reviews. Jun, 2010 | Pubmed ID: 20818723 ミトコンドリア病の神経発達症状です。 Journal of Developmental and Behavioral Pediatrics : JDBP. Sep, 2010 | Pubmed ID: 20814259 ロイシンの豊富な Pentatricopeptide の繰り返しを含むタンパク質ミトコンドリア転写を調節します。 Biochemistry. Sep, 2010 | Pubmed ID: 20677761 ミトコンドリア病療法のマウスモデルでのクロスプラット フォーム表現のマイクロ アレイのパフォーマンス。 Molecular Genetics and Metabolism. Mar, 2010 | Pubmed ID: 19944634 ミトコンドリア呼吸鎖不全は必ず線虫における酸化ストレスが増加します。 Mitochondrion. Mar, 2010 | Pubmed ID: 19900588 ミトコンドリアの病気の治療への近代的なアプローチ。 Current Treatment Options in Neurology. Nov, 2009 | Pubmed ID: 19891905 複製 Ilambda は、具体的には線虫の統合ミトコンドリア機能を制御します。 PloS One. 2009 | Pubmed ID: 19672299 Pdss2変異マウスの主なコエンザイムQの欠乏は、隔離された腎疾患を引き起こす PLoS Genetics. Apr, 2008 | Pubmed ID: 18437205 疑われるミトコンドリア病の綿密な評価。 Molecular Genetics and Metabolism. May, 2008 | Pubmed ID: 18243024 ミトコンドリア病: プライマリ ・ ケア医のための実用的なアプローチ。 Pediatrics. Dec, 2007 | Pubmed ID: 18055683 ミトコンドリア複合体 I 機能線虫における揮発性麻酔感度を調節します。 Current Biology : CB. Aug, 2006 | Pubmed ID: 16920626 母体から Disomy 染色体 14: 症例報告と文献再検討。 Pediatric Neurology. Feb, 2005 | Pubmed ID: 15664772 先天異常へのプライマリ ・ ケア医のアプローチ。 Primary Care. Sep, 2004 | Pubmed ID: 15331250 コーエン症候群アマン派のオハイオ州では。 American Journal of Medical Genetics. Part A. Jul, 2004 | Pubmed ID: 15211651 遺伝病のリスクのある親戚を警告するための医療遺伝学者の義務。 American Journal of Medical Genetics. Part A. Jul, 2003 | Pubmed ID: 12838558 骨形成不全症児における静脈ビスフォスフォネート療法。 Pediatrics. Mar, 2003 | Pubmed ID: 12612238 ミトコンドリア病の ケノハブディティス・エレガンス モデルにおける動物活動量の定量化に関する実験法の比較分析 Manuela Lavorato*1, Neal D. Mathew*1, Nina Shah1, Eiko Nakamaru-Ogiso1,2, Marni J. Falk1,2 1Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania Perelman School of Medicine JoVE 62244 Behavior 開発と成人期における中間代謝フラックスの安定同位体プロファイル線虫(Caenorhabditis elegans) Marni J. Falk1,2, Meera Rao*1, Julian Ostrovsky*1, Evgueni Daikhin1, Ilana Nissim1, Marc Yudkoff1,2 1Department of Pediatrics, The Children's Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania JoVE 2288 Biology
ミトコンドリア病の ケノハブディティス・エレガンス モデルにおける動物活動量の定量化に関する実験法の比較分析 Manuela Lavorato*1, Neal D. Mathew*1, Nina Shah1, Eiko Nakamaru-Ogiso1,2, Marni J. Falk1,2 1Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania Perelman School of Medicine JoVE 62244 Behavior
開発と成人期における中間代謝フラックスの安定同位体プロファイル線虫(Caenorhabditis elegans) Marni J. Falk1,2, Meera Rao*1, Julian Ostrovsky*1, Evgueni Daikhin1, Ilana Nissim1, Marc Yudkoff1,2 1Department of Pediatrics, The Children's Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania JoVE 2288 Biology