Concepedia

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Simon Edvardson, Hiroko Hama, Avraham Shaag, John M. Gomori, Itai Berger, Dov Soffer, Stanley H. Korman, I. Taustein, Ann Saada, Orly Elpeleg

The American Journal of Human Genetics · 2008 · 218 citations · 22 references

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22

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

Steffan N. Ho, Henry D. Hunt, Robert M. Horton et al. · Gene · 1989 · 7.5K citations

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Basic Neurochemistry: Molecular, Cellular, and Medical Aspects

Andrew Davison · Journal of Neurology Neurosurgery & Psychiatry · 1989 · 950 citations · Full text

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X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

Pascale Saugier-Véber, Arnold Münnich, Dominique Bonneau et al. · Nature Genetics · 1994 · 355 citations

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Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova et al. · The American Journal of Human Genetics · 2007 · 331 citations · Full text

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Myelin Formation, Structure and Biochemistry

Pierre Morell, Richard H. Quarles · 1999 · 272 citations

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