A
Arthur H.M. Burghes
Researcher at Ohio State University
Publications - 150
Citations - 19583
Arthur H.M. Burghes is an academic researcher from Ohio State University. The author has contributed to research in topics: Spinal muscular atrophy & SMA*. The author has an hindex of 66, co-authored 143 publications receiving 18037 citations. Previous affiliations of Arthur H.M. Burghes include University of Toronto & University of Texas Southwestern Medical Center.
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Journal ArticleDOI
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
Jerry R. Mendell,Samiah Al-Zaidy,Richard Shell,W. Dave Arnold,Louise R. Rodino-Klapac,Thomas W. Prior,Linda Lowes,Lindsay N. Alfano,K. Berry,Kathleen Church,John T. Kissel,Sukumar Nagendran,James L’Italien,Douglas M. Sproule,Courtney Wells,Jessica A. Cardenas,Marjet D. Heitzer,Allan Arman Kaspar,Sarah Corcoran,Lyndsey Braun,Shibi Likhite,Carlos Henrique Miranda,Kathrin Meyer,K.D. Foust,Arthur H.M. Burghes,Brian K. Kaspar +25 more
TL;DR: In patients with SMA1, a single intravenous infusion of adenoviral vector containing DNA coding for SMN resulted in longer survival, superior achievement of motor milestones, and better motor function than in historical cohorts.
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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,Elliot J. Androphy,Arthur H.M. Burghes,John Douglas Mcpherson +6 more
TL;DR: This study completely sequenced and compared genomic clones containing the SMN genes and suggests that the exon 7 nucleotide change affects the activity of an exon splice enhancer which causes SMA.
Journal ArticleDOI
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,Catia Andreassi,Thanh Le,Sibylle Jablonka,Berthold Schrank,Wilfred Rossol,Thomas W. Prior,Glenn E. Morris,Arthur H.M. Burghes +11 more
TL;DR: In this article, a mouse model of spinal muscular atrophy (SMA) was obtained using transgenic mice that express human SMN2 and mated these onto the null Smn (-/-)background.
Journal ArticleDOI
Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
Amanda M. Haidet-Phillips,Mark E. Hester,Carlos Henrique Miranda,Kathrin Meyer,Lyndsey Braun,Ashley E. Frakes,Ashley E. Frakes,SungWon Song,SungWon Song,Shibi Likhite,Shibi Likhite,Matthew J. Murtha,Matthew J. Murtha,Kevin D. Foust,Meghan Rao,Amy Eagle,Anja Kammesheidt,Ashley Christensen,Jerry R. Mendell,Jerry R. Mendell,Arthur H.M. Burghes,Brian K. Kaspar +21 more
TL;DR: It is demonstrated that astrocytes derived from postmortem tissue from both FALS and SALS patients are similarly toxic to motor neurons and that SOD1 is a viable target for SALS, as its knockdown significantly attenuatesAstrocyte-mediated toxicity toward motor neurons.
Journal ArticleDOI
The Survival Motor Neuron Protein in Spinal Muscular Atrophy
Daniel D. Coovert,Thanh Le,Patricia E. McAndrew,John Strasswimmer,Thomas O. Crawford,Jerry R. Mendell,Susan E. Coulson,Elliot J. Androphy,Thomas W. Prior,Arthur H.M. Burghes +9 more
TL;DR: Investigation of fibroblasts from SMA patients with various clinical severities of SMA showed a moderate reduction in the amount of SMN protein, particularly in type I (most severe) patients, which is consistent with features of this motor neuron disease.