Concepedia

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

Clarice Patrono, Carlo Casali, Alessandra Tessa, F. Cricchi, D. Fortini, Rosalba Carrozzo, Gabriele Siciliano, Enrico Bertini, Filippo M. Santorelli

Journal of Neurology · 2002 · 26 citations · 16 references

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16

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 829 citations · Full text

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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Jamïlé Hazan, Núria Fonknechten, Delphine Mavel et al. · Nature Genetics · 1999 · 633 citations

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The AAA team: related ATPases with diverse functions

Martin Latterich, Sheetal Patel · Trends in Cell Biology · 1998 · 469 citations

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Menin, the product of the <i>MEN1</i> gene, is a nuclear protein

Siradanahalli C. Guru, Paul K. Goldsmith, A. Lee Burns et al. · Proceedings of the National Academy of Sciences · 1998 · 429 citations · Full text

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