Neupauerová J - Search Results

1

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C. Marini C, et al. Among authors: neupauerova j. Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263. Brain. 2018. PMID: 30351409 Free article.

2

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Neupauerová J, Štěrbová K, Vlčková M, Sebroňová V, Maříková T, Krůtová M, David S, Kršek P, Žaliová M, Seeman P, Laššuthová P. Neupauerová J, et al. Genet Test Mol Biomarkers. 2017 Oct;21(10):613-618. doi: 10.1089/gtmb.2017.0110. Epub 2017 Sep 5. Genet Test Mol Biomarkers. 2017. PMID: 28872899

3

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.

Štěrbová K, Vlčková M, Klement P, Neupauerová J, Staněk D, Zůnová H, Seeman P, Laššuthová P. Štěrbová K, et al. Among authors: neupauerova j. Neuropediatrics. 2018 Jun;49(3):204-208. doi: 10.1055/s-0038-1626708. Epub 2018 Feb 14. Neuropediatrics. 2018. PMID: 29444535

4

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Staněk D, Laššuthová P, Štěrbová K, Vlčková M, Neupauerová J, Krůtová M, Seeman P. Staněk D, et al. Among authors: neupauerova j. Orphanet J Rare Dis. 2018 May 2;13(1):71. doi: 10.1186/s13023-018-0812-8. Orphanet J Rare Dis. 2018. PMID: 29720203 Free PMC article.

5

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.

Sedláčková L, Laššuthová P, Štěrbová K, Haberlová J, Vyhnálková E, Neupauerová J, Staněk D, Šedivá M, Kršek P, Seeman P. Sedláčková L, et al. Among authors: neupauerova j. Neuropediatrics. 2019 Feb;50(1):57-60. doi: 10.1055/s-0038-1676288. Epub 2018 Dec 5. Neuropediatrics. 2019. PMID: 30517966

6

KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome.

Štěrbová K, Laššuthová P, Perníková I, Beran M, Neupauerová J, Kršek P, Seeman P. Štěrbová K, et al. Among authors: neupauerova j. Pediatr Neurol. 2017 Feb;67:e3-e4. doi: 10.1016/j.pediatrneurol.2016.11.007. Epub 2016 Dec 8. Pediatr Neurol. 2017. PMID: 28065823 No abstract available.

7

Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.

Neupauerová J, Grečmalová D, Seeman P, Laššuthová P. Neupauerová J, et al. Ann Hum Genet. 2016 May;80(3):182-6. doi: 10.1111/ahg.12151. Epub 2016 Feb 24. Ann Hum Genet. 2016. PMID: 26916081

8

Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient.

Laššuthová P, Šafka Brožková D, Neupauerová J, Krůtová M, Mazanec R, Seeman P. Laššuthová P, et al. Among authors: neupauerova j. Neuromuscul Disord. 2017 Jan;27(1):57-60. doi: 10.1016/j.nmd.2016.09.010. Epub 2016 Sep 22. Neuromuscul Disord. 2017. PMID: 27908631

9

COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report.

Laššuthová P, Beharka R, Krůtová M, Neupauerová J, Seeman P. Laššuthová P, et al. Among authors: neupauerova j. Clin Genet. 2016 Apr;89(4):512-514. doi: 10.1111/cge.12649. Epub 2015 Aug 25. Clin Genet. 2016. PMID: 26302975 No abstract available.

10

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

Brožková DŠ, Posádka J, Laššuthová P, Mazanec R, Haberlová J, Sišková D, Sakmaryová I, Neupauerová J, Seeman P. Brožková DŠ, et al. Among authors: neupauerova j. Mol Med Rep. 2013 Dec;8(6):1779-84. doi: 10.3892/mmr.2013.1730. Epub 2013 Oct 14. Mol Med Rep. 2013. PMID: 24126688

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