Skip to Main Content

Author Details

Louis M Kunkel
Boston Children's Hospital and Harvard Medical School
1973
319
99
PMIDPaper TitleJournal TitlePublished Year
36799992Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.Acta Neuropathol2023
37183669Optimizing assays of zebrafish larvae swimming performance for drug discovery.Expert Opin Drug Discov2023
36090754Erratum: Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.Mol Ther Nucleic Acids2022
35734998Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.Ann Clin Transl Neurol2022
35402076Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations.Mol Ther Nucleic Acids2022
36910591Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.Adv Genet (Hoboken)2022
36041985Tandem duplication within the DMD gene in Labrador retrievers with a mild clinical phenotype.Neuromuscul Disord2022
33221436PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA.Mol Ther2021
33602924POLRMT mutations impair mitochondrial transcription causing neurological disease.Nat Commun2021
33651408hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies.Muscle Nerve2021
31628052The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice.Mol Ther2020
32718931Effect of serotonin modulation on dystrophin-deficient zebrafish.Biol Open2020
32213627Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.Sci Transl Med2020
30688039Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.Mol Genet Genomic Med2019
31843755To dystrophin and beyond: an interview with Louis Kunkel.Dis Model Mech2019
31282429Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.J Neuromuscul Dis2019
31618209Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease.PLoS One2019
30307508Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.Hum Mol Genet2019
30345904Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.Physiol Genomics2018
29944715An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.PLoS One2018
30232282A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies.JCI Insight2018
27708273The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.J Hum Genet2017
28533404Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy.Proc Natl Acad Sci U S A2017
26934379Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Muscle Nerve2016
28670506Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy.Expert Opin Orphan Drugs2016
26642240A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.Nat Genet2016
27676442Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A.Transl Psychiatry2016
27764767Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy.Physiol Genomics2016
27641304CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies.Cell Stem Cell2016
27438726Reflections on Henry Kunkel outside the laboratory.Clin Immunol2016
25801126Emerging preclinical animal models for FSHD.Trends Mol Med2015
26582133Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.Cell2015
27547731Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases.J Neuromuscul Dis2015
26048046The Pathogenesis and Therapy of Muscular Dystrophies.Annu Rev Genomics Hum Genet2015
26034133Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.Hum Mol Genet2015
25813339Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype.Neuromuscul Disord2015
25802879A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.Mol Genet Genomic Med2015
24234649Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling.Hum Mol Genet2014
24793134Dystrophin is a tumor suppressor in human cancers with myogenic programs.Nat Genet2014
24789910MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms.J Clin Invest2014
24564913Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.Mol Autism2014
24687993Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.FASEB J2014
24647604A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).Hum Mol Genet2014
24452336Human skeletal muscle xenograft as a new preclinical model for muscle disorders.Hum Mol Genet2014
22869036Comparative RNA editing in autistic and neurotypical cerebella.Mol Psychiatry2013
24050235Zebrafish based small molecule screens for novel DMD drugs.Drug Discov Today Technol2013
24128691Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.Neuromuscul Disord2013
23606743Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis.J Cell Sci2013
23625158Peripheral blood gene expression signature differentiates children with autism from unaffected siblings.Neurogenetics2013
23646060Zebrafish based small molecule screens for novel DMD drugs.Drug Discov Today Technol2013
  • 1 - 50 of 319

Recommended Authors

Hernan Gonorazky
The Hospital for Sick Children, University of Toronto
Career Start Year 2014
Number of shared co-authors 6
Luke M Judge
Gladstone Institutes
Career Start Year 2002
Number of shared co-authors 0
Stephen J P Pratt
University of Maryland School of Medicine
Career Start Year 1998
Number of shared co-authors 0
Mark R Davis
QEII Medical Centre, Hospital Avenue
Career Start Year 1996
Number of shared co-authors 10
Kate Bushby
Institute of Genetic Medicine, International Centre for Life
Career Start Year 1991
Number of shared co-authors 11
Yasushi Okazaki
Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
Career Start Year 1989
Number of shared co-authors 6
Sylvie Forlani
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Career Start Year 1988
Number of shared co-authors 0
Johanna M Rommens
The Hospital for Sick Children
Career Start Year 1988
Number of shared co-authors 2
Han G Brunner
Maastricht University Medical Centre
Career Start Year 1987
Number of shared co-authors 10
Cornelius F Boerkoel
University of British Columbia
Career Start Year 1987
Number of shared co-authors 6
Volker Straub
Translational and clinical research, Newcastle University Faculty of Medical Sciences
Career Start Year 1987
Number of shared co-authors 14
Hubert J M Smeets
Maastricht University Medical Centre+
Career Start Year 1987
Number of shared co-authors 2
Gail E Herman
12306The Ohio State University
Career Start Year 1986
Number of shared co-authors 14
Stefan Mundlos
Max Planck Institute for Molecular Genetics
Career Start Year 1986
Number of shared co-authors 3
David Wilkes
Caryl and Israel Englander Institute for Precision Medicine.
Career Start Year 1985
Number of shared co-authors 0
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Career Start Year 1985
Number of shared co-authors 18
Xavier Estivill
Sidra Medical Center
Career Start Year 1983
Number of shared co-authors 6
Thomas C Markello
National Institutes of Health
Career Start Year 1982
Number of shared co-authors 4
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 11
James R Lupski
Baylor College of Medicine
Career Start Year 1981
Number of shared co-authors 16
Guy A Rouleau
McGill University, Canada Montreal Neurological Institute and Hospital
Career Start Year 1981
Number of shared co-authors 12
Val C Sheffield
Carver College of Medicine, University of Iowa
Career Start Year 1980
Number of shared co-authors 12
Clair A Francomano
Indiana University School of Medicine
Career Start Year 1980
Number of shared co-authors 1
John W Belmont
Baylor College of Medicine
Career Start Year 1979
Number of shared co-authors 6
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Career Start Year 1978
Number of shared co-authors 13
Robert L Nussbaum
Invitae Corporation
Career Start Year 1976
Number of shared co-authors 5
Asl??han Tolun
Istanbul Technical University
Career Start Year 1974
Number of shared co-authors 0
Jonathan G Seidman
Harvard Medical School
Career Start Year 1973
Number of shared co-authors 12
Arthur L Beaudet
Baylor College of Medicine
Career Start Year 1968
Number of shared co-authors 5
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Career Start Year 1963
Number of shared co-authors 13

Collaborators

Alan H Beggs
Broad Institute of MIT and Harvard
Co-authored papers 49
Hart G W Lidov
Co-authored papers 25
Anthony P Monaco
Monash University
Co-authored papers 23
Isaac S Kohane
Harvard Medical School
Co-authored papers 20
Basil T Darras
Boston Children's Hospital, Harvard Medical School
Co-authored papers 18
Fedik Rahimov
AbbVie Inc.
Co-authored papers 14
Simon C Watkins
Center for Molecular Imaging, University of Pittsburgh School of Medicine
Co-authored papers 13
Alvin T Kho
Brigham and Women's Hospital, Harvard Medical School, Boston Children's Hospital
Co-authored papers 11
Alal Eran
Boston Children's Hospital
Co-authored papers 8
Stephanie J Brewster
Boston Children's Hospital
Co-authored papers 8
Terri G Thompson
Co-authored papers 8
Gert-Jan B van Ommen
Co-authored papers 7
Jeremiah M Scharf
Co-authored papers 6
Christin D Collins
Emory University Department of Human Genetics Atlanta Georgia 30322.
Co-authored papers 6
Charles P Emerson
Co-authored papers 5
Ingrid A Holm
Harvard Medical School
Co-authored papers 5
Anthony A Amato
Brigham Women's Hospital, Harvard Medical School
Co-authored papers 5
Monkol Lek
Co-authored papers 4
Sek Won Kong
Boston Children's Hospital, Seoul National University, Seoul National University Hospital
Co-authored papers 4
Leonard Rappaport
Boston Children's Hospital
Co-authored papers 4
Stuart H Orkin
Boston Children's Hospital and Dana-Farber Cancer Institute, Harvard Medical School
Co-authored papers 4
Steven M Greenberg
Massachusetts General Hospital
Co-authored papers 4
Mark J Daly
Massachusetts General Hospital
Co-authored papers 4
Malcolm G Campbell
Stanford University School of Medicine
Co-authored papers 3
Daniel G MacArthur
Broad Institute of MIT and Harvard
Co-authored papers 3
Jillian McCarthy
Montreal Neurological Institute, McGill University
Co-authored papers 3
Corinne Boehm
Johns Hopkins University School of Medicine
Co-authored papers 3
Kathryn N North
Murdoch Children's Research Institute
Co-authored papers 3
Yuko Shimizu
Tokyo Women's Medical University School of Medicine
Co-authored papers 3
Johan T den Dunnen
Leiden University Medical Center
Co-authored papers 3
Release 1.2