L. Piherová

发表

Mutations in ANTXR1 cause GAPO syndrome.

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

Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

T. Kalina, S. Kmoch, P. Dušek, 2019, American journal of medical genetics. Part A.

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

T. Kalina, Ondřej Pelák, J. Kautzner, 2020, ESC heart failure.

LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

T. Kalina, Ondřej Pelák, S. Kmoch, 2018, American journal of medical genetics. Part A.

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

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

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

V. Melenovský, M. Macek, J. Zeman, 2020, Journal of clinical medicine.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

P. de Knijff, B. Mulder, H. Brown, 2021, The Journal of clinical investigation.

(Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease)

J. Kautzner, V. Melenovský, S. Kmoch, 2022, Cor et Vasa.

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.

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

Nikolas Pontikos, S. Kmoch, A. Davidson, 2021, Genes.

Oligonucleotide-based microarray: a new improvement in microarray detection of plant viruses.

S. Kmoch, L. Piherová, O. Lenz, 2005, Journal of virological methods.

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.

S. Kmoch, J. Krejčí, M. Kubanek, 2019, Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia.

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

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

Mutations inPNPLA6are linked to photoreceptor degeneration and various forms of childhood

D. Sharon, Rui Chen, P. Chinnery, 2015 .

Additional file 14

S. Seneca, P. Divina, M. Tesařová, 2012 .

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.

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

S. Seneca, P. Divina, M. Tesařová, 2008, BMC Genomics.

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022.

T. Zima, H. Hartmannová, S. Kmoch, 2023, Scientific reports.

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

T. Kalina, M. Michaelides, H. Langrová, 2020, Acta ophthalmologica.

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

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

Additional file 12

John Herbert, Francesca M. Buffa, Henrik Vorschmitt, 2008 .

Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.

S. Kmoch, M. Kubanek, L. Špinarová, 2019, Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia.

Genotype is associated with left ventricular reverse remodelling and early events in recent-onset dilated cardiomyopathy.

K. Hodaňová, H. Hartmannová, M. Kubanek, 2024, ESC Heart Failure.

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

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