Concepedia

Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort

Gijs H.P. Tazelaar, Annelot M. Dekker, Joke J.F.A. van Vugt, Rick A. A. van der Spek, Henk‐Jan Westeneng, Lindy Kool, Kevin P. Kenna, Wouter van Rheenen, Sara L. Pulit, Russell L. McLaughlin,

Neurobiology of Aging · 2018 · 37 citations · 13 references

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References

13

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

Andrew C. Elden, Hyung Jun Kim, Michael P. Hart et al. · Nature · 2010 · 1.3K citations

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Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur, Teri A. Manolio, David Dimmock et al. · Nature · 2014 · 1.3K citations · Full text

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Detection of long repeat expansions from PCR-free whole-genome sequence data

Egor Dolzhenko, Joke J.F.A. van Vugt, Richard J. Shaw et al. · Genome Research · 2017 · 437 citations · Full text

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Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

J-H. Chai, Devin P. Locke, John M. Greally et al. · The American Journal of Human Genetics · 2003 · 222 citations · Full text

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NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

Shirley Rainier, Jing-Hua Chai, Debra A. Tokarz et al. · The American Journal of Human Genetics · 2003 · 206 citations · Full text

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