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Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.
Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF. Smith KR, et al. Among authors: carpenter s. Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021. Epub 2012 May 17. Am J Hum Genet. 2012. PMID: 22608501 Free PMC article.
Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.
Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M. Smith KR, et al. Among authors: carpenter s. Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297359 Free PMC article.
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium. Berkovic SF, et al. Among authors: carpenter s. Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13. Neurology. 2016. PMID: 27412140 Free PMC article.
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S. Berkovic SF, et al. Among authors: carpenter s. Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297. Brain. 2019. PMID: 30561534
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
Clinical spectrum of mitochondrial DNA mutation at base pair 8344.
Berkovic SF, Shoubridge EA, Andermann F, Andermann E, Carpenter S, Karpati G. Berkovic SF, et al. Among authors: carpenter s. Lancet. 1991 Aug 17;338(8764):457. doi: 10.1016/0140-6736(91)91090-h. Lancet. 1991. PMID: 1678125 No abstract available.
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.
Progressive dystonia with bilateral putaminal hypodensities.
Berkovic SF, Karpati G, Carpenter S, Lang AE. Berkovic SF, et al. Among authors: carpenter s. Arch Neurol. 1987 Nov;44(11):1184-7. doi: 10.1001/archneur.1987.00520230064016. Arch Neurol. 1987. PMID: 3314812 Review.
1,113 results