Anna Přistoupilová

Author

Anna Přistoupilová

Also Known As

A. Pristoupilova, A. PŘISTOUPILOVÁ, A. Přistoupilová, A., Přistoupilová, Ana Pristoupilova, Anna Pristoupilova, Anna Přistoupilová

Publications

1.3K

Citations

H-Index

Concepts

All Affiliations

Charles University Wake Forest University Centre for Biomedical Network Research on Rare Diseases University of Antwerp Institute of Clinical and Experimental Medicine

About

Anna Přistoupilová is an author at Charles University specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	639
2	Cell Biology	4	4	370
3	Social Sciences	3	3	148
4	Biochemistry	1	1	14
5	Cellular Physiology	1	1	70

Anna Přistoupilová

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis Lenka Nosková, Viktor Stránecký, Hana Hartmannová, The American Journal of Human Genetics Linkage MappingNeurogenomicsGeneticsPathologyNeurochemical Biomarkers	2011	261
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Nikhita Bolar, Christelle Golzio, Martina Živná, The American Journal of Human Genetics	2016	152
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy, Nature Communications	2015	93
Mutations in ANTXR1 Cause GAPO Syndrome Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, The American Journal of Human Genetics Genetic DisorderMedicineGeneticsPathogenesisPathology	2013	91
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer Clara Esteban-Jurado, María Vila-Casadesús, Pilar Garré, Genetics in Medicine	2014	90
Two Novel Mutations in the<i>BCKDK</i>(Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients Àngels García‐Cazorla, Alfonso Oyarzábal, Joana Fort, Human Mutation Oral Bcaa SupplementationBrain DevelopmentNeurological DisorderGeneticsDisease Gene Identification	2014	82
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 Hana Hartmannová, Lenka Piherová, Kateřina Tauchmannová, Human Molecular Genetics	2016	76
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene M Melia, Akatsuki Kubota, Saida Ortolano, Brain Mutant GeneMendelian DisorderSkeletal MuscleGenetic DisorderGenetics	2013	70
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease Martina Živná, Kendrah Kidd, Anna Přistoupilová, Journal of the American Society of Nephrology	2018	52
Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene Hana Hartmannová, Miloš Kubánek, Marek Šramko, Circulation Cardiovascular Genetics	2013	46

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