Lehesjoki AE - Search Results

1

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

Schwarz N, Hahn A, Bast T, Müller S, Löffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UBS. Schwarz N, et al. Among authors: lehesjoki ae. J Neurol. 2016 Feb;263(2):334-343. doi: 10.1007/s00415-015-7984-0. Epub 2015 Dec 8. J Neurol. 2016. PMID: 26645390

2

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE. Liao Y, et al. Among authors: lehesjoki ae. Neurology. 2010 Oct 19;75(16):1454-8. doi: 10.1212/WNL.0b013e3181f8812e. Neurology. 2010. PMID: 20956790

3

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki AE, Polvi A, Robbiano A, Serratosa JM, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C; EPICURE Consortium. Striano P, et al. Among authors: lehesjoki ae. Neurology. 2012 Feb 21;78(8):557-62. doi: 10.1212/WNL.0b013e318247ff54. Epub 2012 Jan 25. Neurology. 2012. PMID: 22282645

4

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.

Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE. Siintola E, et al. Among authors: lehesjoki ae. Clin Genet. 2005 Aug;68(2):167-73. doi: 10.1111/j.1399-0004.2005.00471.x. Clin Genet. 2005. PMID: 15996215

5

Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.

Alakurtti K, Virtaneva K, Joensuu T, Palvimo JJ, Lehesjoki AE. Alakurtti K, et al. Among authors: lehesjoki ae. Gene. 2000 Jan 25;242(1-2):65-73. doi: 10.1016/s0378-1119(99)00550-8. Gene. 2000. PMID: 10721698

6

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

7

A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q.

Joensuu T, Hämäläinen R, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Among authors: lehesjoki ae. Genomics. 2000 Feb 1;63(3):409-16. doi: 10.1006/geno.1999.6096. Genomics. 2000. PMID: 10704288

8

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Among authors: lehesjoki ae. Am J Hum Genet. 2001 Oct;69(4):673-84. doi: 10.1086/323610. Epub 2001 Aug 27. Am J Hum Genet. 2001. PMID: 11524702 Free PMC article.

9

Shared loci for migraine and epilepsy on chromosomes 14q12-q23 and 12q24.2-q24.3.

Polvi A, Siren A, Kallela M, Rantala H, Artto V, Sobel EM, Palotie A, Lehesjoki AE, Wessman M. Polvi A, et al. Among authors: lehesjoki ae. Neurology. 2012 Jan 17;78(3):202-9. doi: 10.1212/WNL.0b013e31823fcd87. Epub 2012 Jan 4. Neurology. 2012. PMID: 22218271 Free PMC article.

10

Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs.

Lehesjoki AE, Eldridge R, Eldridge J, Wilder BJ, de la Chapelle A. Lehesjoki AE, et al. Neurology. 1993 Nov;43(11):2384-6. doi: 10.1212/wnl.43.11.2384. Neurology. 1993. PMID: 8232963

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