Publications by authors named "Marni Falk"

98Publications

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.

Curr Opin Pediatr 2020 Dec;32(6):707-718

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia.

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http://dx.doi.org/10.1097/MOP.0000000000000954DOI Listing
December 2020

The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery.

Authors:
Marni J Falk

J Inherit Metab Dis 2020 Oct 2. Epub 2020 Oct 2.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/jimd.12319DOI Listing
October 2020

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

Hum Mutat 2020 Dec 10;41(12):2028-2057. Epub 2020 Nov 10.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/humu.24107DOI Listing
December 2020

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.

Ann Neurol 2020 08 13;88(2):218-232. Epub 2020 Jun 13.

Division of Neuroradiology, Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/ana.25789DOI Listing
August 2020

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.

Clin Lab Med 2020 06;40(2):149-161

Keck School of Medicine of USC, Center for Personalized Medicine, Children's Hospital Los Angeles, Suite 300, 2100 West 3rd Street, Los Angeles, CA 90057, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cll.2020.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250163PMC
June 2020

Mitochondrial diseases in North America: An analysis of the NAMDC Registry.

Neurol Genet 2020 Apr 2;6(2):e402. Epub 2020 Mar 2.

Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1212/NXG.0000000000000402DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164977PMC
April 2020

Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175PMC
February 2020

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

Neurology 2020 02 2;94(7):e687-e698. Epub 2020 Jan 2.

From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000008861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176297PMC
February 2020

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

Front Physiol 2019 6;10:699. Epub 2019 Jun 6.

Maternal and Child Health Research Center, Department of Obstetrics and Gynecology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.

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http://dx.doi.org/10.3389/fphys.2019.00699DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590495PMC
June 2019

What Parents Need to Know About Genetic Testing.

JAMA Pediatr 2019 04;173(4):404

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http://dx.doi.org/10.1001/jamapediatrics.2019.0005DOI Listing
April 2019

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

Hum Mutat 2019 05 4;40(5):499-515. Epub 2019 Mar 4.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506718PMC
May 2019

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.

Cancer Res 2019 04 1;79(7):1318-1330. Epub 2019 Feb 1.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

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http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
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http://dx.doi.org/10.1158/0008-5472.CAN-18-2220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445760PMC
April 2019

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

Hum Mol Genet 2019 06;28(11):1837-1852

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddz023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522065PMC
June 2019

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

Curr Genet Med Rep 2018 Jun 2;6(2):62-72. Epub 2018 May 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://link.springer.com/10.1007/s40142-018-0138-9
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http://dx.doi.org/10.1007/s40142-018-0138-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208355PMC
June 2018

Mitochondrial Genomics: A complex field now coming of age.

Curr Genet Med Rep 2018 Jun 2;6(2):52-61. Epub 2018 May 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://link.springer.com/10.1007/s40142-018-0137-x
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http://dx.doi.org/10.1007/s40142-018-0137-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205240PMC
June 2018

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.

Curr Opin Pediatr 2018 12;30(6):714-724

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia.

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http://Insights.ovid.com/crossref?an=00008480-900000000-9893
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http://dx.doi.org/10.1097/MOP.0000000000000686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467265PMC
December 2018

Endocrine Disorders in Primary Mitochondrial Disease.

J Endocr Soc 2018 Apr 19;2(4):361-373. Epub 2018 Feb 19.

North American Mitochondrial Disease Consortium, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1210/js.2017-00434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5865537PMC
April 2018

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

Mol Genet Metab Rep 2018 Jun 9;15:74. Epub 2018 Mar 9.

Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857490PMC
June 2018

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

Hum Mutat 2018 06 6;39(6):806-810. Epub 2018 Apr 6.

Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/humu.23422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992054PMC
June 2018

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

Mol Genet Metab 2018 04 23;123(4):449-462. Epub 2018 Feb 23.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.02.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891356PMC
April 2018

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

Mol Genet Metab 2018 03 2;123(3):301-308. Epub 2018 Feb 2.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849405PMC
March 2018

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

Aging Dis 2018 Feb 1;9(1):17-30. Epub 2018 Feb 1.

1Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.14336/AD.2017.0230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772855PMC
February 2018

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

J Inherit Metab Dis 2018 03 20;41(2):157-168. Epub 2017 Nov 20.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10545-017-0111-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832583PMC
March 2018

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

Annu Rev Pathol 2018 01 3;13:163-191. Epub 2017 Nov 3.

Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; email:

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http://dx.doi.org/10.1146/annurev-pathol-020117-043644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911915PMC
January 2018

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

Mitochondrion 2018 05 3;40:42-50. Epub 2017 Oct 3.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858966PMC
May 2018

Clinical effects of chemical exposures on mitochondrial function.

Toxicology 2017 11 27;391:90-99. Epub 2017 Jul 27.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, United Staes.

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http://dx.doi.org/10.1016/j.tox.2017.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078194PMC
November 2017

Mitochondrial function requires NGLY1.

Mitochondrion 2018 01 25;38:6-16. Epub 2017 Jul 25.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2017.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6038697PMC
January 2018

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish.

Neurochem Int 2018 07 18;117:23-34. Epub 2017 Jul 18.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States. Electronic address:

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http://dx.doi.org/10.1016/j.neuint.2017.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5773416PMC
July 2018

Risk factors for poor bone health in primary mitochondrial disease.

J Inherit Metab Dis 2017 Sep 27;40(5):673-683. Epub 2017 Apr 27.

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s10545-017-0046-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659975PMC
September 2017

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

Mol Genet Metab 2017 06 19;121(2):119-126. Epub 2017 Apr 19.

Division of Vascular Surgery, Hospital of the University of Pennsylvania, Perelman School of Medicine at the University of Pennsylvania, Philadelphia PA & Department of Surgery, Corporal Michael Crescenz VA, Philadelphia, PA, United States.

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http://dx.doi.org/10.1016/j.ymgme.2017.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5492979PMC
June 2017

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

J Inherit Metab Dis 2017 03 20;40(2):291-296. Epub 2016 Oct 20.

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 34th and Civic Center Blvd, 5NW58, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s10545-016-9986-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309197PMC
March 2017

International Paediatric Mitochondrial Disease Scale.

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9948-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987390PMC
September 2016

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

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

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

Cold Spring Harb Mol Case Stud 2016 May;2(3):a001065

Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.

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http://dx.doi.org/10.1101/mcs.a001065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853518PMC
May 2016

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

Case Rep Genet 2016 16;2016:4140780. Epub 2016 Mar 16.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://www.hindawi.com/journals/crig/2016/4140780/
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http://dx.doi.org/10.1155/2016/4140780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4812228PMC
April 2016

Mitochondrial Replacement Techniques--Implications for the Clinical Community.

N Engl J Med 2016 Mar 24;374(12):1103-6. Epub 2016 Feb 24.

From the Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia (M.J.F.); the National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD (A.D.); and the Johns Hopkins Berman Institute of Bioethics, Johns Hopkins University, Baltimore (J.P.K.).

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http://dx.doi.org/10.1056/NEJMp1600893DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936492PMC
March 2016

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

Hum Mutat 2015 Oct 12;36(10):950-6. Epub 2015 Aug 12.

Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136.

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http://dx.doi.org/10.1002/humu.22836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682547PMC
October 2015

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

Mol Ther 2015 Oct 10;23(10):1592-9. Epub 2015 Jul 10.

Department of Neurology, University of Miami Miller School of Medicine Miami, Miami, Florida, USA.

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http://dx.doi.org/10.1038/mt.2015.126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817924PMC
October 2015

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

Front Genet 2015 5;6:199. Epub 2015 Jun 5.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

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http://dx.doi.org/10.3389/fgene.2015.00199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4456612PMC
June 2015

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

Mitochondrion 2015 May 3;22:45-59. Epub 2015 Mar 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.02.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4447550PMC
May 2015

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

Bioinformatics 2015 Apr 12;31(8):1310-2. Epub 2014 Dec 12.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA, Center for Biomedical Informaticsand Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA, Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA and Department of Forensic Molecular Biology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btu825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393525PMC
April 2015

Integrative analysis of independent transcriptome data for rare diseases.

Methods 2014 Oct 27;69(3):315-25. Epub 2014 Jun 27.

Department of Computer Science, Wayne State University, 5057 Woodward Avenue, Suite 3010, Detroit, MI 48202, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymeth.2014.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014495PMC
October 2014

Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases.

Cell Rep 2014 May;7(4):935-7

Divisions of Human Genetics and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.celrep.2014.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349563PMC
May 2014

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

Int J Biochem Cell Biol 2014 May 22;50:106-11. Epub 2014 Feb 22.

Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2014.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022474PMC
May 2014

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

Mol Genet Metab 2014 Mar 27;111(3):331-341. Epub 2013 Dec 27.

Division of Human Genetics, The Children's Hospital of Philadelphia, and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3947636PMC
March 2014

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

Mol Genet Metab 2013 Sep-Oct;110(1-2):145-52. Epub 2013 Jul 19.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812452PMC
March 2014

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

Discov Med 2012 Dec;14(79):389-99

Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923327PMC
December 2012

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

Neurotherapeutics 2013 Apr;10(2):251-61

Divisions of Human Genetics and Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s13311-012-0174-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625386PMC
April 2013

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

Discov Med 2012 Feb;13(69):143-50

Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3618896PMC
February 2012

Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans.

Methods Mol Biol 2012 ;837:241-55

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/978-1-61779-504-6_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625535PMC
April 2012

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

Methods Mol Biol 2012 ;837:231-9

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590112PMC
April 2012

Optical reversal of halothane-induced immobility in C. elegans.

Curr Biol 2011 Dec 1;21(24):2070-6. Epub 2011 Dec 1.

Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

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http://dx.doi.org/10.1016/j.cub.2011.10.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245814PMC
December 2011

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

Mitochondrion 2012 Mar 1;12(2):248-57. Epub 2011 Oct 1.

Department of Genetics, The University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1016/j.mito.2011.09.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288186PMC
March 2012

Mitochondrial disorders and the eye.

Curr Opin Ophthalmol 2011 Sep;22(5):325-31

Division of Human Genetics and Child Development, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1097/ICU.0b013e328349419dDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652603PMC
September 2011

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

J Vis Exp 2011 Feb 27(48). Epub 2011 Feb 27.

Department of Pediatrics, The Children's Hospital of Philadelphia, USA.

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http://dx.doi.org/10.3791/2288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197386PMC
February 2011

Mitochondrial genetic diseases.

Curr Opin Pediatr 2010 Dec;22(6):711-6

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1097/MOP.0b013e3283402e21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3586258PMC
December 2010

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

Dev Disabil Res Rev 2010 ;16(2):200-18

Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, San Antonio, TX 78245-3207, USA.

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http://doi.wiley.com/10.1002/ddrr.114
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628736PMC
January 2011

Introduction: Emerging research in mitochondrial disease.

Authors:
Marni J Falk

Dev Disabil Res Rev 2010 ;16(2):105

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http://doi.wiley.com/10.1002/ddrr.111
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January 2011

Neurodevelopmental manifestations of mitochondrial disease.

Authors:
Marni J Falk

J Dev Behav Pediatr 2010 Sep;31(7):610-21

Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1097/DBP.0b013e3181ef42c1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923321PMC
September 2010