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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Minassian BA, et al. Among authors: carpenter s. Nat Genet. 1998 Oct;20(2):171-4. doi: 10.1038/2470. Nat Genet. 1998. PMID: 9771710
Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.
Minassian BA, Sainz J, Serratosa JM, Gee M, Sakamoto LM, Bohlega S, Geoffroy G, Barr C, Scherer SW, Tomiyasu U, Carpenter S, Wigg K, Sanghvi AV, Delgado-Escueta AV. Minassian BA, et al. Among authors: carpenter s. Ann Neurol. 1999 Feb;45(2):262-5. doi: 10.1002/1531-8249(199902)45:2<262::aid-ana20>3.0.co;2-9. Ann Neurol. 1999. PMID: 9989632
Kufs disease: clinical features and forms.
Berkovic SF, Andermann F, Andermann E, Carpenter S, Wolfe L. Berkovic SF, et al. Among authors: carpenter s. Am J Med Genet Suppl. 1988;5:105-9. doi: 10.1002/ajmg.1320310614. Am J Med Genet Suppl. 1988. PMID: 3146309 Review.
The Newfoundland aggregate of neuronal ceroid-lipofuscinosis.
Andermann E, Jacob JC, Andermann F, Carpenter S, Wolfe L, Berkovic SF. Andermann E, et al. Among authors: carpenter s. Am J Med Genet Suppl. 1988;5:111-6. doi: 10.1002/ajmg.1320310615. Am J Med Genet Suppl. 1988. PMID: 3146310
Kufs' disease: a critical reappraisal.
Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS. Berkovic SF, et al. Among authors: carpenter s. Brain. 1988 Feb;111 ( Pt 1):27-62. doi: 10.1093/brain/111.1.27. Brain. 1988. PMID: 3284607 Review.
20,151 results
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