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Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF. Arsov T, et al. Among authors: berkovic sf. Am J Hum Genet. 2011 May 13;88(5):566-73. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549341 Free PMC article.
Ramsay Hunt syndrome: to bury or to praise.
Berkovic SF, Andermann F. Berkovic SF, et al. J Neurol Neurosurg Psychiatry. 1990 Jan;53(1):89-90. doi: 10.1136/jnnp.53.1.89. J Neurol Neurosurg Psychiatry. 1990. PMID: 2106013 Free PMC article. No abstract available.
Kufs disease: clinical features and forms.
Berkovic SF, Andermann F, Andermann E, Carpenter S, Wolfe L. Berkovic SF, et al. 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: berkovic sf. 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. Brain. 1988 Feb;111 ( Pt 1):27-62. doi: 10.1093/brain/111.1.27. Brain. 1988. PMID: 3284607 Review.
745 results