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D. W. Parsons
D. W. Parsons
Ohio State University
Spinal muscular atrophy
Genetics
Biology
Compound heterozygosity
Molecular biology
4
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800
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0.02
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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy (vol 9, pg 333, 2000)
2007
Human Molecular Genetics
Umrao R. Monani
Michael Sendtner
Daniel D. Coovert
D. W. Parsons
C Andreassi
Thanh T. Le
Sibylle Jablonka
Bertold Schrank
Wilfried Rossoll
Thomas W. Prior
Glenn E. Morris
A. Burghes
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Citations (150)
Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.
1998
Journal of Medical Genetics
D. W. Parsons
Patricia E. McAndrew
P. S. Allinson
W. D. Parker
Arthur H.M. Burghes
Thomas W. Prior
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Citations (28)
Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number
1998
American Journal of Human Genetics
D. W. Parsons
Patricia E. McAndrew
Susan T. Iannaccone
Jerry R. Mendell
A. Burghes
Thomas W. Prior
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Citations (158)
Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number
1997
American Journal of Human Genetics
Patricia E. McAndrew
D. W. Parsons
Louise R. Simard
Camille Rochette
Peter N. Ray
Jerry R. Mendell
Thomas W. Prior
Arthur H.M. Burghes
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Citations (464)
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