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Genetics

D-Index
77
Citations
25213
World Ranking
1762
National Ranking
806

Overview

Arthur H.M. Burghes is affiliated with The Ohio State University in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Within these broader areas, they have contributed notably to subfields including Molecular Biology, Genetics, Surgery, Cardiology and Cardiovascular Medicine, and Neurology.

Their publication record reflects engagement with several main topics, such as Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, RNA Research and Splicing, Muscle Physiology and Disorders, Congenital Anomalies and Fetal Surgery, Exercise and Physiological Responses, and Muscle metabolism and nutrition.

Arthur H.M. Burghes has published in various academic journals, with frequent contributions to:

  • Human Molecular Genetics
  • Neuromuscular Disorders
  • Neurobiology of Aging
  • Molecular Therapy - Methods & Clinical Development
  • bioRxiv (Cold Spring Harbor Laboratory)

Recent papers authored or co-authored by Burghes include:

  • Base editing rescue of spinal muscular atrophy in cells and in mice, 2023, Science
  • Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue, 2021, Nature Medicine
  • Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen, 2021, BMJ Neurology Open
  • Early Inflammation in Muscular Dystrophy Differs between Limb and Respiratory Muscles and Increases with Dystrophic Severity, 2021, American Journal Of Pathology
  • Follistatin-induced muscle hypertrophy in aged mice improves neuromuscular junction innervation and function, 2021, Neurobiology of Aging

Their frequent co-authors include W. David Arnold, Vicki L. McGovern, Anton J. Blatnik, Chitra C. Iyer, and Brian K. Kaspar.

Best Publications

  • Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

    Jerry R. Mendell;Samiah Al-Zaidy;Richard Shell;W. Dave Arnold

  • A Single Nucleotide Difference That Alters Splicing Patterns Distinguishes the SMA Gene SMN1 From the Copy Gene SMN2

    Umrao R. Monani;Christian L. Lorson;D. William Parsons;Thomas W. Prior

  • The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn–/– mice and results in a mouse with spinal muscular atrophy

    Umrao R. Monani;Michael Sendtner;Daniel D. Coovert;D. William Parsons

  • SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

    Thanh T. Le;Lan T. Pham;Matthew E.R. Butchbach;Honglai L. Zhang

  • Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

    Arthur H. M. Burghes;Christine E. Beattie

  • The Survival Motor Neuron Protein in Spinal Muscular Atrophy

    Daniel D. Coovert;Thanh T. Le;Patricia E. McAndrew;John Strasswimmer

  • The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

    Elizabeth E. Zubrzycka-Gaarn;Dennis E. Bulman;George Karpati;Arthur H. M. Burghes

  • Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy

    Jerry R. Mendell;John T. Kissel;Anthony A. Amato;Wendy King

  • Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number

    P.E. McAndrew;D.W. Parsons;L.R. Simard;C. Rochette

  • SMN oligomerization defect correlates with spinal muscular atrophy severity.

    Christian L. Lorson;John Strasswimmer;Jun Mei Yao;James D. Baleja

  • Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding

    Michelle L. McWhorter;Umrao R. Monani;Arthur H.M. Burghes;Christine E. Beattie

  • Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

    Matthew D Mailman;John W Heinz;Audrey C Papp;Pamela J Snyder

  • Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

    Adam K Bevan;Adam K Bevan;Sandra Duque;Kevin D Foust;Pablo R Morales

  • Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs

    Francesca Gabanella;Matthew E. R. Butchbach;Luciano Saieva;Claudia Carissimi

  • Valproic acid increases SMN levels in spinal muscular atrophy patient cells.

    Charlotte J. Sumner;Thanh N. Huynh;Jennifer A. Markowitz;J. Stephen Perhac

  • Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS.

    Kathrin Meyer;Laura Ferraiuolo;Carlos J. Miranda;Shibi Likhite;Shibi Likhite

  • Dystrophin glycoprotein complex dysfunction: a regulatory link between muscular dystrophy and cancer cachexia.

    Swarnali Acharyya;Matthew E.R. Butchbach;Zarife Sahenk;Huating Wang

  • Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy

    S. B. Malhotra;K. A. Hart;H. J. Klamut;N. S. T. Thomas

  • A cDNA clone from the Duchenne/Becker muscular dystrophy gene

    Arthur H. M. Burghes;Cairine Logan;Xiuyuan Hu;Bonnie Belfall

  • A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

    Thomas W. Prior;Adrian R. Krainer;Yimin Hua;Kathryn J. Swoboda

Frequent Co-Authors

Jerry R. Mendell
Jerry R. Mendell The Ohio State University
Thomas W. Prior
Thomas W. Prior The Ohio State University
Brian K. Kaspar
Brian K. Kaspar Insmed Incorporated
John T. Kissel
John T. Kissel The Ohio State University
Glenn E. Morris
Glenn E. Morris Keele University
Elliot J. Androphy
Elliot J. Androphy Indiana University
Peter N. Ray
Peter N. Ray University of Toronto
Steve D. Wilton
Steve D. Wilton University of Western Australia
Christian L. Lorson
Christian L. Lorson University of Missouri
Brunhilde Wirth
Brunhilde Wirth University of Cologne

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