Concepedia

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

Janine Kirby, William Smith, J. Robin Highley, Rudo Masanzu, Judith Hartley, Rachel Hibberd, Hannah Hollinger, Stephen B. Wharton, Karen Morrison, Paul G. Ince,

Neurogenetics · 2009 · 86 citations · 28 references

DOI

Concepts

References

28

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

D.R. Rosen, Teepu Siddique, David T. Patterson et al. · Nature · 1993 · 7K citations

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Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

Manuela Neumann, Deepak M. Sampathu, Linda K. Kwong et al. · Science · 2006 · 6.6K citations

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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Jemeen Sreedharan, Ian P. Blair, Vineeta B. Tripathi et al. · Science · 2008 · 2.6K citations · Full text

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Edor Kabashi, Paul N. Valdmanis, Patrick A. Dion et al. · Nature Genetics · 2008 · 1.5K citations

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Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with <i>SOD1</i> mutations

Ian R. Mackenzie, Eileen H. Bigio, Paul G. Ince et al. · Annals of Neurology · 2007 · 988 citations · Full text

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