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47 results on '"Petra Laššuthová"'

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1. A 5‐year‐old boy with super‐refractory status epilepticus and RANBP2 variant warranting life‐saving hemispherotomy

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

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3. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains ofKCNH5

4. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

5. Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review

6. Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

7. Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration

8. Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases

9. In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer

10. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

11. A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy

12. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

13. Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant

14. Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations

15. Genetic causes of epilepsy

16. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

17. PURA syndrome

18. Schinzel—Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis

19. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

20. Correction: IQSEC2-related encephalopathy in males and females:a comparative study including 37 novel patients

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

22. Hereditary motor neuropathies

23. Massively Parallel Sequencing Detected a Mutation in theMFN2Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site

24. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

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

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

27. Author response for 'Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2'

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

29. STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

30. Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy

31. Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome

32. COX6A1mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report

33. HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8

34. Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

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

36. High frequency of SH3TC2 mutations in Czech HMSN I patients

37. Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene

38. Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients

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

40. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

41. Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom

42. Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease

43. Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused byde novomutation in theMORC2gene

44. Mutations in the LMNA gene do not cause axonal CMT in Czech patients

45. 5. Electrophysiological features of peripheral and central nervous system in hereditary neuropathy Charcot Marie Tooth linked to X chromosome

46. Czech family confirms the link between FBLN5 and Charcot–Marie–Tooth type 1 neuropathy

47. Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies