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Items: 1 to 20 of 43

1.

Resting-State Functional Connectivity and Cognitive Impairment in Children with Perinatal Stroke.

Ilves N, Ilves P, Laugesaar R, Juurmaa J, Männamaa M, Lõo S, Loorits D, Tomberg T, Kolk A, Talvik I, Talvik T.

Neural Plast. 2016;2016:2306406. doi: 10.1155/2016/2306406.

PMID:
28074160
2.

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.

Neurology. 2017 Jan 4. pii: 10.1212/WNL.0000000000003565. doi: 10.1212/WNL.0000000000003565. [Epub ahead of print]

PMID:
28053010
3.

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.

Mol Syndromol. 2016 Sep;7(4):210-219.

PMID:
27781031
4.

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.

Lilles S, Talvik I, Noormets K, Vaher U, Õunap K, Reimand T, Sander V, Ilves P, Talvik T.

Neuropediatrics. 2016 Dec;47(6):361-367.

PMID:
27599155
5.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Johannesen K, Marini C, Pfeffer S, Møller RS, Dorn T, Niturad C, Gardella E, Weber Y, Søndergård M, Hjalgrim H, Nikanorova M, Becker F, Larsen LH, Dahl HA, Maier O, Mei D, Biskup S, Klein KM, Reif PS, Rosenow F, Elias AF, Hudson C, Helbig KL, Schubert-Bast S, Scordo MR, Craiu D, Djémié T, Hoffman-Zacharska D, Caglayan H, Helbig I, Serratosa J, Striano P, De Jonghe P, Weckhuysen S, Suls A, Muru K, Talvik I, Talvik T, Muhle H, Borggraefe I, Rost I, Guerrini R, Lerche H, Lemke JR, Rubboli G, Maljevic S.

Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087.

PMID:
27521439
6.

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.

Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678.

PMID:
27250579
7.

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Pajusalu S, Talvik I, Noormets K, Talvik T, Põder H, Joost K, Puusepp S, Piirsoo A, Stenzel W, Goebel HH, Nikopensius T, Annilo T, Nõukas M, Metspalu A, Õunap K, Reimand T.

Neuromuscul Disord. 2016 Mar;26(3):236-9. doi: 10.1016/j.nmd.2015.11.011.

PMID:
26782017
8.

Presumed Perinatal Stroke: Risk Factors, Clinical and Radiological Findings.

Ilves P, Laugesaar R, Loorits D, Kolk A, Tomberg T, Lõo S, Talvik I, Kahre T, Talvik T.

J Child Neurol. 2016 Apr;31(5):621-8. doi: 10.1177/0883073815609149.

PMID:
26446909
9.

De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.

Pajusalu S, Reimand T, Uibo O, Vasar M, Talvik I, Zilina O, Tammur P, Õunap K.

Eur J Med Genet. 2015 Jun-Jul;58(6-7):336-40. doi: 10.1016/j.ejmg.2015.04.002.

PMID:
25907420
10.

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

Zilina O, Kahre T, Talvik I, Oiglane-Shlik E, Tillmann V, Ounap K.

Eur J Med Genet. 2014 May-Jun;57(6):279-83. doi: 10.1016/j.ejmg.2014.03.007.

PMID:
24704109
11.

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.

Eur J Paediatr Neurol. 2014 May;18(3):338-46. doi: 10.1016/j.ejpn.2014.01.008.

PMID:
24529875
12.

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.

J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300.

PMID:
24352161
13.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium..

Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017.

PMID:
24207121
14.

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.

Epilepsy Res. 2013 Jul;105(1-2):86-91. doi: 10.1016/j.eplepsyres.2013.02.009.

PMID:
23538270
15.

Valproic acid-induced pancreatitis in a 15-year-old boy with juvenile myoclonic epilepsy.

Veri K, Uibo O, Talvik I, Talvik T.

Medicina (Kaunas). 2013;49(11):487-9.

PMID:
24823930
16.

A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.

Joost K, Rodenburg RJ, Piirsoo A, van den Heuvel L, Zordania R, Põder H, Talvik I, Kilk K, Soomets U, Ounap K.

Mol Syndromol. 2012 Sep;3(3):113-119.

PMID:
23112753
17.

Use of botulinum neurotoxin A in uncontrolled salivation in children with cerebral palsy: a pilot study.

Tiigimäe-Saar J, Leibur E, Kolk A, Talvik I, Tamme T.

Int J Oral Maxillofac Surg. 2012 Dec;41(12):1540-5. doi: 10.1016/j.ijom.2012.09.015.

PMID:
23068112
18.

Epileptic laughter: 2 case reports.

Talvik I, Vibo R, Liik M, Haldre S, Talvik T.

Medicina (Kaunas). 2012;48(7):359-63.

PMID:
23032908
19.

Efficacy and tolerability of rizatriptan in pediatric migraineurs: results from a randomized, double-blind, placebo-controlled trial using a novel adaptive enrichment design.

Ho TW, Pearlman E, Lewis D, Hämäläinen M, Connor K, Michelson D, Zhang Y, Assaid C, Mozley LH, Strickler N, Bachman R, Mahoney E, Lines C, Hewitt DJ; Rizatriptan Protocol 082 Pediatric Migraine Study Group..

Cephalalgia. 2012 Jul;32(10):750-65.

PMID:
22711898
20.

The live-birth prevalence of mucopolysaccharidoses in Estonia.

Krabbi K, Joost K, Zordania R, Talvik I, Rein R, Huijmans JG, Verheijen FV, Õunap K.

Genet Test Mol Biomarkers. 2012 Aug;16(8):846-9. doi: 10.1089/gtmb.2011.0307.

PMID:
22480138
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