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1.
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Ann Neurol
; 90(5): 738-750, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34564892
2.
Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
Clin Genet
; 98(6): 548-554, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32860223
3.
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
Eur Arch Otorhinolaryngol
; 276(12): 3353-3358, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31552524
4.
A progressive KY myopathy could be caused by a missense pathogenic variant.
Clin Genet
; 103(6): 723-725, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36683559
5.
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
J Hum Genet
; 62(3): 431-435, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28003645
6.
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Brain
; 138(Pt 8): 2161-72, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26072516
7.
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.
Brain
; 139(Pt 4): e26, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26912637
8.
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.
Genes (Basel)
; 12(5)2021 05 01.
Article
in English
| MEDLINE | ID: mdl-34062854
9.
Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases.
Genet Test Mol Biomarkers
; 24(5): 264-273, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32255705
10.
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kucinskas syndrome in two Czech Roma brothers.
Clin Dysmorphol
; 29(4): 197-201, 2020 Oct.
Article
in English
| MEDLINE | ID: mdl-32657846
11.
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found.
Neurosci Lett
; 721: 134800, 2020 03 16.
Article
in English
| MEDLINE | ID: mdl-32007496
12.
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.
Orphanet J Rare Dis
; 15(1): 222, 2020 08 26.
Article
in English
| MEDLINE | ID: mdl-32847582
13.
Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.
Brain
; 136(Pt 7): e232, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23328402
14.
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient.
J Clin Neurosci
; 59: 337-339, 2019 Jan.
Article
in English
| MEDLINE | ID: mdl-30446360
15.
Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient.
Neuromuscul Disord
; 27(1): 57-60, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27908631
16.
Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.
Int J Pediatr Otorhinolaryngol
; 86: 27-33, 2016 Jul.
Article
in English
| MEDLINE | ID: mdl-27260575
17.
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Orphanet J Rare Dis
; 11(1): 118, 2016 08 22.
Article
in English
| MEDLINE | ID: mdl-27549087
18.
MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.
PLoS One
; 10(4): e0124232, 2015.
Article
in English
| MEDLINE | ID: mdl-25885414
19.
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family.
Int J Pediatr Otorhinolaryngol
; 76(11): 1681-4, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22951369
20.
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.
Neuromuscul Disord
; 22(8): 742-6, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22546699
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