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

251 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. Dibbens LM, et al. Among authors: lehesjoki ae. Ann Neurol. 2009 Oct;66(4):532-6. doi: 10.1002/ana.21765. Ann Neurol. 2009. PMID: 19847901
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari CA, Omer S, Pennacchio LA, Myers RM, Dieguez-Lucena JL, Krahe R, de la Chapelle A, Lehesjoki AE. Virtaneva K, et al. Among authors: lehesjoki ae. Nat Genet. 1997 Apr;15(4):393-6. doi: 10.1038/ng0497-393. Nat Genet. 1997. PMID: 9090386
Identical genetic locus for Baltic and Mediterranean myoclonus.
Malafosse A, Lehesjoki AE, Genton P, Labauge P, Durand G, Tassinari CA, Dravet C, Michelucci R, de la Chapelle A. Malafosse A, et al. Among authors: lehesjoki ae. Lancet. 1992 May 2;339(8801):1080-1. doi: 10.1016/0140-6736(92)90667-r. Lancet. 1992. PMID: 1349105
A patient with 2 different repeat expansion mutations.
Nokelainen P, Heiskala H, Lehesjoki AE, Kaski M. Nokelainen P, et al. Among authors: lehesjoki ae. Arch Neurol. 2000 Aug;57(8):1199-203. doi: 10.1001/archneur.57.8.1199. Arch Neurol. 2000. PMID: 10927802
251 results