Christian L. Lorson

A single nucleotide in the <i>SMN</i> gene regulates splicing and is responsible for spinal muscular atrophy

Christian L. Lorson, Eric Hahnen, Elliot J. Androphy et al. · Proceedings of the National Academy of Sciences · 1999 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +17

Induced pluripotent stem cells from a spinal muscular atrophy patient

Allison D. Ebert, Junying Yu, Ferrill F. Rose et al. · Nature · 2008 · 1.4K citations · Full text

Life Sciences, Molecular Medicine, Neuroscience +14

SMN oligomerization defect correlates with spinal muscular atrophy severity

Christian L. Lorson, John Strasswimmer, Jun-Mei Yao et al. · Nature Genetics · 1998 · 495 citations

Medicine, Neurology, Neuroscience +10

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

Christian L. Lorson · Human Molecular Genetics · 2000 · 434 citations

Life Sciences, Genetics, Molecular Genetics +14

<i>Htra2-β</i> <i>1</i> stimulates an exonic splicing enhancer and can restore full-length <i>SMN</i> expression to <i>survival motor neuron</i> 2 ( <i>SMN2</i> )

Yvonne Hofmann, Christian L. Lorson, Stefan Stamm et al. · Proceedings of the National Academy of Sciences · 2000 · 312 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17