A. Přistoupilová

发表

Mutations in ANTXR1 cause GAPO syndrome.

A. Hoischen, J. Hehir-Kwa, H. Brunner, 2013, American journal of human genetics.

New genes emerging for colorectal cancer predisposition.

Á. Carracedo, S. Beltran, J. Lozano, 2014, World journal of gastroenterology.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.

C. van Broeckhoven, H. Hartmannová, L. Nosková, 2011, American journal of human genetics.

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.

K. Hodaňová, H. Hartmannová, S. Kmoch, 2016, Pharmacogenomics.

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans

Thomas M. Keane, Martin W. Breuss, D. Keays, 2018, Nature Neuroscience.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

B. Blumenstiel, K. Hodaňová, O. Viklicky, 2018, Journal of the American Society of Nephrology : JASN.

Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion

C. van Broeckhoven, S. Berkovic, A. Meurs, 2018, Neurology.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Katherine R. Smith, S. Berkovic, M. Bahlo, 2016, Neurology.

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

J. Kautzner, K. Hodaňová, H. Hartmannová, 2013, Circulation. Cardiovascular genetics.

Lipoprotein lipase deficiency: clinical, biochemical and molecular characteristics in three patients with novel mutations in the LPL gene.

T. Zima, M. Tesařová, J. Zeman, 2014, Folia biologica.

NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease.

S. Kmoch, E. Hrubá, T. Honzík, 2020, Journal of neuropathology and experimental neurology.

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Joaquín Dopazo, Rosa Navarrete, Anna López-Sala, 2014, Human mutation.

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature

M. Tesařová, J. Zeman, J. Zamecnik, 2016, Cardiology in the Young.

Rare copy number variation in extremely impulsively violent males

John Wei, S. Scherer, K. Hodaňová, 2018, Genes, brain, and behavior.

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Á. Carracedo, S. Beltran, M. Vila-Casadesús, 2014, Genetics in Medicine.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

I. Férnandez-Cadenas, E. García-Arumí, A. Andreu, 2013, Brain : a journal of neurology.

Large copy-number variations in patients with statin-associated myopathy affecting statin myopathy-related loci.

K. Hodaňová, H. Hartmannová, S. Kmoch, 2016, Physiological research.

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

K. Hodaňová, M. Vrbacký, H. Hartmannová, 2016, Human molecular genetics.

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

H. Budka, K. Hodaňová, H. Hartmannová, 2013, Journal of the Neurological Sciences.

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

K. Hodaňová, H. Hartmannová, L. Nosková, 2020, Molecular genetics & genomic medicine.

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

T. Honzík, V. Stránecký, A. Přistoupilová, 2021, Annals of clinical and translational neurology.

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

F. Andermann, E. Andermann, K. Hodaňová, 2020, European Journal of Human Genetics.

Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations

N. Lennon, C. Langefeld, T. Zima, 2021, American Journal of Nephrology.

Rare Copy Number Variation In an Extremely Impulsively Violent Males:

K. Hodaňová, H. Hartmannová, L. Nosková, 2018 .

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

J. Dopazo, B. Merinero, M. Ugarte, 2014, Human mutation.

Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci

K. Hodaňová, H. Hartmannová, S. Kmoch, 2016 .

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

K. Hodaňová, H. Hartmannová, M. Zarrei, 2024, Genes, brain, and behavior.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

I. Férnandez-Cadenas, E. García-Arumí, A. Andreu, 2013, Brain : a journal of neurology.

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Ne

C. Broeckhoven, H. Hartmannová, S. Kmoch, 2011 .

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis

G. Cavalleri, K. Hodaňová, H. Hartmannová, 2024, Kidney international reports.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.