Gene conversion events in adult-onset spinal muscular atrophy-Reference-Cited by-同舟云学术

Gene conversion events in adult-onset spinal muscular atrophy

Published:2003-08-28 Issue:2 Volume:109 Page:151-154
ISSN:0001-6314
Container-title:Acta Neurologica Scandinavica
language:en
Short-container-title:

Author:

Mazzei R.,Gambardella A.,Conforti F. L.,Magariello A.,Patitucci A.,Gabriele A. L.,Sprovieri T.,Labate A.,Valentino P.,Bono F.,Bonavita S.,Zappia M.,Muglia M.,Quattrone A.

Publisher

Wiley

Subject

Clinical Neurology,Neurology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1600-0404.2003.00181.x/fullpdf

Reference20 articles.

1. Meeting report: International SMA Consortium Meeting;International SMA Consortium;Neuromusc Disord,1992

2. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

3. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spiceosomal snRNP proteins;Liu;Cell,1997

4. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients;Bussaglia;Nat Genet,1995

5. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy;Cobben;Am J Hum Genet,1995

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3. Clinical and radiological profile of patients with spinal muscular atrophy type 4;European Journal of Neurology;2020-11-12

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