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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Kidney international, 2022-02, Vol.101 (2), p.349-359

2022

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-08, Vol.89 (2), p.241-252

2011

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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

American journal of human genetics, 2016-01, Vol.98 (1), p.75-89

2016

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GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

American journal of human genetics, 2022-10, Vol.109 (10), p.1885-1893

2022

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Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

The Journal of clinical investigation, 2012-02, Vol.122 (2), p.519-528

2012

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.783-789

2020

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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Nature genetics, 2008-11, Vol.40 (11), p.1288-1290

2008

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Rare copy number variation in extremely impulsively violent males

Genes, brain and behavior, 2019-07, Vol.18 (6), p.e12536-n/a

2019

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Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder

Genes, brain and behavior, 2024-02, Vol.23 (1), p.e12882-n/a

2024

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Mutations in ANTXR1 Cause GAPO Syndrome

American journal of human genetics, 2013-05, Vol.92 (5), p.792-799

2013

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Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1238-n/a

2020

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Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

Prague medical report, 2020, Vol.121 (3), p.153-162

2020

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Expression and processing of the TMEM70 protein

Biochimica et biophysica acta, 2011, Vol.1807 (1), p.144-149

2011

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Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

Journal of the neurological sciences, 2013-03, Vol.326 (1), p.75-82

2013

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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

American journal of human genetics, 2006-11, Vol.79 (5), p.807-819

2006

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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Orphanet journal of rare diseases, 2023-04, Vol.18 (1), p.92-92, Article 92

2023

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Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump

Liver international, 2007-05, Vol.27 (4), p.485-491

2007

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Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency

BMC genomics, 2008-01, Vol.9 (1), p.38-38, Article 38

2008

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

American journal of human genetics, 2023-02, Vol.110 (2), p.215-227

2023

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Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene

Circulation. Cardiovascular genetics, 2013-12, Vol.6 (6), p.543

2013

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The influence of pore size on colonization of poly(l-lactide-glycolide) scaffolds with human osteoblast-like MG 63 cells in vitro

Journal of materials science. Materials in medicine, 2008, Vol.19 (1), p.425-435

2008

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Nanocomposite Ti/hydrocarbon plasma polymer films from reactive magnetron sputtering as growth support for osteoblast-like and endothelial cells

Journal of Biomedical Materials Research Part B, 2009-03, Vol.88A (4), p.952-966

2009

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Autosomal recessive congenital ichthyoses in the Czech Republic

British journal of dermatology (1951), 2016-02, Vol.174 (2), p.405-407

2016

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Avidity of antineurocytoskeletal antibodies in Alzheimer's disease patients

Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia, 2017-06, Vol.161 (2), p.179-186

2017

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The weak association between neurofilament levels at multiple sclerosis onset and cognitive performance after 9 years

Multiple sclerosis and related disorders, 2020-11, Vol.46, p.102534-102534, Article 102534

2020

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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Rare copy number variation in extremely impulsively violent males

Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder

Mutations in ANTXR1 Cause GAPO Syndrome

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

Expression and processing of the TMEM70 protein

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene

The influence of pore size on colonization of poly(l-lactide-glycolide) scaffolds with human osteoblast-like MG 63 cells in vitro

Nanocomposite Ti/hydrocarbon plasma polymer films from reactive magnetron sputtering as growth support for osteoblast-like and endothelial cells

Autosomal recessive congenital ichthyoses in the Czech Republic

Avidity of antineurocytoskeletal antibodies in Alzheimer's disease patients

The weak association between neurofilament levels at multiple sclerosis onset and cognitive performance after 9 years

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