Concepedia

A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia

Zuzana Mušová, Michaela Kaiserová, Eva Kriegová, Regina Fillerová, Peter Vasovčák, A Santavá, Kateřina Menšíková, Alena Zumrová, Anna Křepelová, Zdeněk Sedláček,

The Cerebellum · 2013 · 23 citations · 20 references

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References

20

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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The m-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in Mitochondria

Mark Nolden, Sarah Ehses, Mirko Koppen et al. · Cell · 2005 · 401 citations · Full text

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A highly annotated whole-genome sequence of a Korean individual

Jong‐Il Kim, Young Seok Ju, Hansoo Park et al. · Nature · 2009 · 345 citations · Full text

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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco et al. · Nature Genetics · 2010 · 344 citations

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Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Tyler Mark Pierson, David R. Adams, Florian Bonn et al. · PLoS Genetics · 2011 · 230 citations · Full text

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