Seeman P - Search Results

1

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

Sedláčková L, Laššuthová P, Štěrbová K, Vlčková M, Kudr M, Buksakowska I, Staněk D, Seeman P. Sedláčková L, et al. Among authors: seeman p. Eur J Med Genet. 2021 Sep;64(9):104263. doi: 10.1016/j.ejmg.2021.104263. Epub 2021 Jun 24. Eur J Med Genet. 2021. PMID: 34174466

2

Nijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability.

Seemanová E, Sperling K, Neitzel H, Varon R, Hadac J, Butova O, Schröck E, Seeman P, Digweed M. Seemanová E, et al. Among authors: seeman p. J Med Genet. 2006 Mar;43(3):218-24. doi: 10.1136/jmg.2005.035287. Epub 2005 Jul 20. J Med Genet. 2006. PMID: 16033915 Free PMC article.

3

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

Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P. Lassuthová P, et al. Among authors: seeman p. J Hum Genet. 2009 Jun;54(6):365-8. doi: 10.1038/jhg.2009.43. Epub 2009 May 8. J Hum Genet. 2009. PMID: 19424285

4

Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.

Lassuthová P, Baránková L, Kraus J, Maríková T, Seeman P. Lassuthová P, et al. Among authors: seeman p. Pediatr Neurol. 2009 Aug;41(2):127-30. doi: 10.1016/j.pediatrneurol.2009.03.009. Pediatr Neurol. 2009. PMID: 19589462

5

High frequency of SH3TC2 mutations in Czech HMSN I patients.

Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P. Laššuthová P, et al. Among authors: seeman p. Clin Genet. 2011 Oct;80(4):334-45. doi: 10.1111/j.1399-0004.2011.01640.x. Epub 2011 Mar 1. Clin Genet. 2011. PMID: 21291453

6

Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.

Laššuthová P, Gregor M, Sarnová L, Machalová E, Sedláček R, Seeman P. Laššuthová P, et al. Among authors: seeman p. J Neurogenet. 2012 Sep;26(3-4):413-20. doi: 10.3109/01677063.2012.711398. Epub 2012 Sep 5. J Neurogenet. 2012. PMID: 22950825

7

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

Laššuthová P, Žaliová M, Inoue K, Haberlová J, Sixtová K, Sakmaryová I, Paděrová K, Mazanec R, Zámečník J, Šišková D, Garbern J, Seeman P. Laššuthová P, et al. Among authors: seeman p. J Child Neurol. 2014 Jul;29(7):924-31. doi: 10.1177/0883073813492387. Epub 2013 Jun 14. J Child Neurol. 2014. PMID: 23771846

8

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: seeman p. 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

9

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.

Lassuthova P, Sišková D, Haberlová J, Sakmaryová I, Filouš A, Seeman P. Lassuthova P, et al. Among authors: seeman p. Orphanet J Rare Dis. 2014 Apr 1;9:46. doi: 10.1186/1750-1172-9-46. Orphanet J Rare Dis. 2014. PMID: 24690360 Free PMC article.

10

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

Laššuthová P, Brožková DŠ, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dvořáčková N, Goldenberg Z, Seeman P. Laššuthová P, et al. Among authors: seeman p. Neurogenetics. 2015 Jan;16(1):43-54. doi: 10.1007/s10048-014-0427-8. Epub 2014 Oct 24. Neurogenetics. 2015. PMID: 25342199

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