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L

Lenka Piherová

first faculty of medicine
H指数:12
被引数:585

个人简介

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教育背景

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工作经历

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荣誉奖项

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The Evolving Role of Genomic Technologies in Multiple Myeloma: Implications for Diagnosis, Risk Stratification and Resistance

基因组技术在多发性骨髓瘤中不断发展的作用：对诊断、风险分层和耐药性的影响

Molecular Diagnosis & Therapy
IF4.4
2026-03-300
OAAI
Klára Baďurová; Veronika Kapustová; Jana Kotulová; Vítězslav Brinsa; Lenka Piherová; Václav Janoušek; Michal Pohludka; Michal Richtář; Tomáš Jelínek; Roman Hájek; Zuzana Chyra; Tereza Ševčíková
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2021-03-0119
OA
Lahrouchi, Najim; Postma, Alex V.; Salazar, Christian M.; Laughter, Daniel M. De; Tjong, Fleur; Piherova, Lenka; Bowling, Forrest Z.; Zimmerman, Dominic; Lodder, Elisabeth M.; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Skoric-Milosavljevic, Doris; Stranecky, Viktor; Tomek, Viktor; Knijff, Peter de; Leeuw, Rick de; Robinson, Jamille Y.; Burn, Sabrina C.; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M.; Wolf, Barry; Kim, Katherine H.; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denomme-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C.; Harkel, Arend D. J. Ten; Manten, Gwendolyn T. R.; Dutman, Annemiek C.; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs W. E.; Herkert, Johanna C.; Brown, H. Alex; Elpeleg, Orly; Hoff, Maurice J. B. van den; Mulder, Barbara; Airola, Michael V.; Kmoch, Stanislav; Barnett, Joey V.; Clur, Sally-Ann; Frohman, Michael A.; Bezzina, Connie R.
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease

即使在没有其他Danon病迹象的体细胞镶嵌携带者中，色素性视网膜病也可以表明存在致病性LAMP2变体

ACTA OPHTHALMOLOGICA
IF2.8
2020-06-1310
PREAI
Kousal, Bohdan; Majer, Filip; Vlaskova, Hana; Dvorakova, Lenka; Piherova, Lenka; Meliska, Martin; Langrova, Hana; Palecek, Tomas; Kubanek, Milos; Krebsova, Alice; Gurka, Jiri; Stara, Veronika; Michaelides, Michel; Kalina, Tomas; Sikora, Jakub; Liskova, Petra
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
JOURNAL OF CLINICAL MEDICINE
IF2.9
2020-03-2925
OAAI
Kubanek, Milos; Schimerova, Tereza; Piherova, Lenka; Brodehl, Andreas; Krebsova, Alice; Ratnavadivel, Sandra; Stanasiuk, Caroline; Hansikova, Hana; Zeman, Jiri; Palecek, Tomas; Houstek, Josef; Drahota, Zdenek; Nuskova, Hana; Mikesova, Jana; Zamecnik, Josef; Macek, Milan, Jr.; Ridzon, Petr; Maluskova, Jana; Stranecky, Viktor; Melenovsky, Vojtech; Milting, Hendrik; Kmoch, Stanislav
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

Fanconi综合征的Acadian变体是由线粒体呼吸链复合物I缺乏引起的，这是由于复合物I组装因子NDUFAF6中的非编码突变所致。

HUMAN MOLECULAR GENETICS
IF3.2
2016-07-2745
OAAI
Hartmannova, Hana; Piherova, Lenka; Tauchmannova, Kate Rina; Kidd, Kendrah; Acott, Philip D.; Crocker, John F. S.; Oussedik, Youcef; Mallet, Marcel; Hodanova, Katerina; Stranecky, Viktor; Pristoupilova, Anna; Baresova, Veronika; Jedlickova, Ivana; Zivna, Martina; Sovova, Jana; Hulkova, Helena; Robins, Vicki; Vrbacky, Marek; Pecina, Petr; Kaplanova, Vilma; Houstek, Josef; Mracek, Tomas; Thibeault, Yves; Bleyer, Anthony J.; Kmoch, Stanislav
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
NATURE COMMUNICATIONS
IF15.7
2015-01-0971
OAAI
Kmoch, S.; Majewski, J.; Ramamurthy, V.; Cao, S.; Fahiminiya, S.; Ren, H.; MacDonald, I. M.; Lopez, I.; Sun, V.; Keser, V.; Khan, A.; Stranecky, V.; Hartmannova, H.; Pristoupilova, A.; Hodanova, K.; Piherova, L.; Kuchar, L.; Baxova, A.; Chen, R.; Barsottini, O. G. P.; Pyle, A.; Griffin, H.; Splitt, M.; Sallum, J.; Tolmie, J. L.; Sampson, J. R.; Chinnery, P.; Banin, E.; Sharon, D.; Dutta, S.; Grebler, R.; Helfrich-Foerster, C.; Pedroso, J. L.; Kretzschmar, D.; Cayouette, M.; Koenekoop, R. K.
Mutations in ANTXR1 Cause GAPO Syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2013-05-0167
OAAI
Stranecky, Viktor; Hoischen, Alexander; Hartmannova, Hana; Zaki, Maha S.; Chaudhary, Amit; Zudaire, Enrique; Noskova, Lenka; Baresova, Veronika; Pristoupilova, Anna; Hodanova, Katerina; Sovova, Jana; Hulkova, Helena; Piherova, Lenka; Hehir-Kwa, Jayne Y.; de Silva, Deepthi; Senanayake, Manouri P.; Farrag, Sameh; Zeman, Jiri; Martasek, Pavel; Baxova, Alice; Afifi, Hanan H.; St Croix, Brad; Brunner, Han G.; Temtamy, Samia; Kmoch, Stanislav
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency
BMC GENOMICS
IF3.7
2008-01-2524
OAAI
Cizkova, Alena; Stranecky, Viktor; Ivanek, Robert; Hartmannova, Hana; Noskova, Lenka; Piherova, Lenka; Tesarova, Marketa; Hansikova, Hana; Honzik, Tomas; Zeman, Jiri; Divina, Petr; Potocka, Andrea; Paul, Jan; Sperl, Wolfgang; Mayr, Johannes A.; Seneca, Sara; Houstek, Josef; Kmoch, Stanislav

研究方向

暂未获取到该数据
S
Stanislav Kmoch
H 指数:48论文数:284被引数:7,494
V
Viktor Stránecký
H 指数:30论文数:187被引数:3,447
H
Hana Hartmannová
H 指数:22论文数:68被引数:2,374
A
Alice Krebsová
H 指数:16论文数:87被引数:1,834
M
Miloš Kubánek
H 指数:18论文数:98被引数:3,430
K
Kateřina Hodaňová
H 指数:24论文数:69被引数:2,017
V
Vojtěch Melenovský
H 指数:58论文数:427被引数:2.1万
J
J Zeman
H 指数:42论文数:449被引数:7,533
A
Anna Přistoupilová
H 指数:16论文数:39被引数:1,348
T
Tomáš Paleček
H 指数:21论文数:181被引数:7,584