日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis

疑似患有遗传性痉挛性截瘫的儿童显然能从全外显子组分析中获益。

Safka Brozkova, Dana; Paulasova Schwabova, Jaroslava; Vyhnalkova, Emilie; Lassuthova, Petra; Musilova, Alena; Novotna, Ludmila; Vasova, Jana; Uhrova Meszarosova, Anna

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease

对1106名捷克神经系统疾病先证者的下一代测序数据进行重新分析,以检测串联重复序列扩增。

Musilova, Alena; Lassuthova, Petra; Uhrova Meszarosova, Anna; Straka, Barbora; Krejcikova, Jana; Berounska, Anna; Vlckova, Marketa; Musova, Zuzana; Safka Brozkova, Dana

Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality

18 名欧洲杂合 KIF1A 变异患者的基因型-表型相关性:评估 KIF1A 变异致病性的关键考虑因素

Uhrova Meszarosova, Anna; Galiart, Elea; Lassuthova, Petra; Kolokotronis, Konstantinos; Seidl, Benjamin; Musilova, Alena; Peckova, Anna; Takacsova, Alena; Vyhnalkova, Emilie; Grecmalova, Dagmar; Vlckova, Eva; Skutilova, Vladana; Steindl, Katharina; Rauch, Anita; Stettner, Georg M; Safka Brozkova, Dana

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study

皮质发育畸形基因检测:一项临床诊断研究

Straka, Barbora; Hermanovska, Barbora; Krskova, Lenka; Zamecnik, Josef; Vlckova, Marketa; Balascakova, Miroslava; Tesner, Pavel; Jezdik, Petr; Tichy, Michal; Kyncl, Martin; Musilova, Alena; Lassuthova, Petra; Marusic, Petr; Krsek, Pavel

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

中老年人轴突神经病变的遗传图谱:聚焦MME

Senderek, Jan; Lassuthova, Petra; Kabzińska, Dagmara; Abreu, Lisa; Baets, Jonathan; Beetz, Christian; Braathen, Geir J; Brenner, David; Dalton, Joline; Dankwa, Lois; Deconinck, Tine; De Jonghe, Peter; Dräger, Bianca; Eggermann, Katja; Ellis, Melina; Fischer, Carina; Stojkovic, Tanya; Herrmann, David N; Horvath, Rita; Høyer, Helle; Iglseder, Stephan; Kennerson, Marina; Kinslechner, Katharina; Kohler, Jennefer N; Kurth, Ingo; Laing, Nigel G; Lamont, Phillipa J; Wolfgang N, Löscher; Ludolph, Albert; Marques, Wilson Jr; Nicholson, Garth; Ong, Royston; Petri, Susanne; Ravenscroft, Gianina; Rebelo, Adriana; Ricci, Giulia; Rudnik-Schöneborn, Sabine; Schirmacher, Anja; Schlotter-Weigel, Beate; Schoels, Ludger; Schüle, Rebecca; Synofzik, Matthis; Francou, Bruno; Strom, Tim M; Wagner, Johannes; Walk, David; Wanschitz, Julia; Weinmann, Daniela; Weishaupt, Jochen; Wiessner, Manuela; Windhager, Reinhard; Young, Peter; Züchner, Stephan; Toegel, Stefan; Seeman, Pavel; Kochański, Andrzej; Auer-Grumbach, Michaela

Prot2HG: a database of protein domains mapped to the human genome

Prot2HG:一个将蛋白质结构域映射到人类基因组的数据库

Stanek, David; Bis-Brewer, Dana M; Saghira, Cima; Danzi, Matt C; Seeman, Pavel; Lassuthova, Petra; Zuchner, Stephan

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

ATP1A1基因突变导致显性夏科-马里-图斯病2型

Lassuthova, Petra; Rebelo, Adriana P; Ravenscroft, Gianina; Lamont, Phillipa J; Davis, Mark R; Manganelli, Fiore; Feely, Shawna M; Bacon, Chelsea; Brožková, Dana Šafka; Haberlova, Jana; Mazanec, Radim; Tao, Feifei; Saghira, Cima; Abreu, Lisa; Courel, Steve; Powell, Eric; Buglo, Elena; Bis, Dana M; Baxter, Megan F; Ong, Royston W; Marns, Lorna; Lee, Yi-Chung; Bai, Yunhong; Isom, Daniel G; Barro-Soria, René; Chung, Ki W; Scherer, Steven S; Larsson, H Peter; Laing, Nigel G; Choi, Byung-Ok; Seeman, Pavel; Shy, Michael E; Santoro, Lucio; Zuchner, Stephan

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

HARS基因功能丧失突变会导致一系列遗传性周围神经病。

Safka Brozkova, Dana; Deconinck, Tine; Griffin, Laurie Beth; Ferbert, Andreas; Haberlova, Jana; Mazanec, Radim; Lassuthova, Petra; Roth, Christian; Pilunthanakul, Thanita; Rautenstrauss, Bernd; Janecke, Andreas R; Zavadakova, Petra; Chrast, Roman; Rivolta, Carlo; Zuchner, Stephan; Antonellis, Anthony; Beg, Asim A; De Jonghe, Peter; Senderek, Jan; Seeman, Pavel; Baets, Jonathan

Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies

10名捷克吉普赛儿童患有先天性白内障、面部畸形和脱髓鞘性神经病变(CCFDN)——捷克吉普赛人中常见且被低估的致残原因

Lassuthova, Petra; Sišková, Dana; Haberlová, Jana; Sakmaryová, Iva; Filouš, Aleš; Seeman, Pavel