Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

48 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. 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.
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Carranza Rojo D, Harvey AS, Iona X, Dibbens LM, Damiano JA, Arsov T, Gill D, Freeman JL, Leventer RJ, Vincent A, Berkovic SF, McMahon JM, Scheffer IE. Carranza Rojo D, et al. Among authors: damiano ja. Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3. Epilepsy Res. 2012. PMID: 22386634
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. 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.
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Arsov T, Mullen SA, Damiano JA, Lawrence KM, Huh LL, Nolan M, Young H, Thouin A, Dahl HH, Berkovic SF, Crompton DE, Sadleir LG, Scheffer IE. Arsov T, et al. Among authors: damiano ja. Epilepsia. 2012 Dec;53(12):e204-7. doi: 10.1111/epi.12007. Epub 2012 Oct 25. Epilepsia. 2012. PMID: 23106342 Free article.
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE. Arsov T, et al. Among authors: damiano ja. Ann Neurol. 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. Ann Neurol. 2012. PMID: 23280796
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. 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.
Recent advances in the molecular genetics of epilepsy.
Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF. Hildebrand MS, et al. Among authors: damiano ja. J Med Genet. 2013 May;50(5):271-9. doi: 10.1136/jmedgenet-2012-101448. Epub 2013 Mar 6. J Med Genet. 2013. PMID: 23468209 Review.
48 results