Vaher U - Search Results

1

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

Talvik I, Møller RS, Vaher M, Vaher U, Larsen LH, Dahl HA, Ilves P, Talvik T. Talvik I, et al. Among authors: vaher u, vaher m. Child Neurol Open. 2015 May 5;2(2):2329048X15583717. doi: 10.1177/2329048X15583717. eCollection 2015 Apr-Jun. Child Neurol Open. 2015. PMID: 28503590 Free PMC article.

2

Cerebral blood-flow velocities in predicting outcome of asphyxiated newborn infants.

Ilves P, Lintrop M, Metsvaht T, Vaher U, Talvik T. Ilves P, et al. Among authors: vaher u. Acta Paediatr. 2004 Apr;93(4):523-8. doi: 10.1080/08035250410024745. Acta Paediatr. 2004. PMID: 15188981

3

Newly-diagnosed pediatric epilepsy is associated with elevated autoantibodies to glutamic acid decarboxylase but not cardiolipin.

Veri K, Uibo O, Talvik T, Talvik I, Metsküla K, Napa A, Vaher U, Õiglane-Šlik E, Rein R, Kolk A, Traat A, Uibo R. Veri K, et al. Among authors: vaher u. Epilepsy Res. 2013 Jul;105(1-2):86-91. doi: 10.1016/j.eplepsyres.2013.02.009. Epub 2013 Mar 25. Epilepsy Res. 2013. PMID: 23538270

4

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Lemke JR, Lal D, Reinthaler EM, Steiner I, Nothnagel M, Alber M, Geider K, Laube B, Schwake M, Finsterwalder K, Franke A, Schilhabel M, Jähn JA, Muhle H, Boor R, Van Paesschen W, Caraballo R, Fejerman N, Weckhuysen S, De Jonghe P, Larsen J, Møller RS, Hjalgrim H, Addis L, Tang S, Hughes E, Pal DK, Veri K, Vaher U, Talvik T, Dimova P, Guerrero López R, Serratosa JM, Linnankivi T, Lehesjoki AE, Ruf S, Wolff M, Buerki S, Wohlrab G, Kroell J, Datta AN, Fiedler B, Kurlemann G, Kluger G, Hahn A, Haberlandt DE, Kutzer C, Sperner J, Becker F, Weber YG, Feucht M, Steinböck H, Neophythou B, Ronen GM, Gruber-Sedlmayr U, Geldner J, Harvey RJ, Hoffmann P, Herms S, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Lemke JR, et al. Among authors: vaher u. Nat Genet. 2013 Sep;45(9):1067-72. doi: 10.1038/ng.2728. Epub 2013 Aug 11. Nat Genet. 2013. PMID: 23933819

5

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

Vaher U, Nõukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. Vaher U, et al. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. J Child Neurol. 2014. PMID: 24352161

6

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Õiglane-Shlik E, Puusepp S, Talvik I, Vaher U, Rein R, Tammur P, Reimand T, Teek R, Žilina O, Tomberg T, Õunap K. Õiglane-Shlik E, et al. Among authors: vaher u. Eur J Paediatr Neurol. 2014 May;18(3):338-46. doi: 10.1016/j.ejpn.2014.01.008. Epub 2014 Jan 25. Eur J Paediatr Neurol. 2014. PMID: 24529875

7

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K. Reinson K, et al. Among authors: vaher u. Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250579

8

Lilles S, Talvik I, Noormets K, Vaher U, Õunap K, Reimand T, Sander V, Ilves P, Talvik T. Lilles S, et al. Among authors: vaher u. Neuropediatrics. 2016 Dec;47(6):361-367. doi: 10.1055/s-0036-1586730. Epub 2016 Sep 6. Neuropediatrics. 2016. PMID: 27599155 Review.

9

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Møller RS, Larsen LH, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JE, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LI, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. Møller RS, et al. Among authors: vaher u. Mol Syndromol. 2016 Sep;7(4):210-219. doi: 10.1159/000448369. Epub 2016 Aug 20. Mol Syndromol. 2016. PMID: 27781031 Free PMC article.

10

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Møller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S. Møller RS, et al. Among authors: vaher u. Neurology. 2017 Jan 31;88(5):483-492. doi: 10.1212/WNL.0000000000003565. Epub 2017 Jan 4. Neurology. 2017. PMID: 28053010 Free PMC article.

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