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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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System of fuzzy relation equations with inf - → composition: Complete set of solutions

Fuzzy sets and systems, 2008-09, Vol.159 (17), p.2256-2271

2008

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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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Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Human molecular genetics, 2023-09, Vol.32 (18), p.2822-2831

2023

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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Brain (London, England : 1878), 2022-06, Vol.145 (5), p.1624-1631

2022

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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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Autosomal dominant Zellweger Spectrum Disorder caused by de novo variants in PEX14 gene

Genetics in medicine, 2023-11, Vol.25 (11), p.100944-100944, Article 100944

2023

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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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Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report

Clinical parkinsonism & related disorders, 2024-01, Vol.11, p.100267, Article 100267

2024

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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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ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

Brain communications, 2023-11, Vol.5 (6), p.fcad295-fcad295

2023

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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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Innovative Methods of Teaching Literary Education

European Journal of Teaching and Education, 2022-12, Vol.5 (1), p.34-41

2022

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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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Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis

Biochimica et biophysica acta. Bioenergetics, 2024-09, Vol.1865, p.149440, Article 149440

2024

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

American journal of human genetics, 2011-10, Vol.89 (4), p.589-589

2011

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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

System of fuzzy relation equations with inf - → composition: Complete set of solutions

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

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

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

Autosomal dominant Zellweger Spectrum Disorder caused by de novo variants in PEX14 gene

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

Rare copy number variation in extremely impulsively violent males

Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report

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

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

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

Innovative Methods of Teaching Literary Education

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)

Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis

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

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

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