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

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle

显性横纹肌溶解症与复发性 ATP2A2 变异体有关,该变异体可降低肌肉中 SERCA2 的功能。

Malaichamy, Sivasankar; Idoux, Romane; Polavarapu, Kiran; Šikić, Katarina; Holla, Elisa; Thompson, Rachel; Spendiff, Sally; Schänzer, Anne; Küsters, Benno; Freeman, Emily; Hentschel, Andreas; O'Neil, Daniel; Carmona-Martinez, Ricardo; Dobelmann, Vera; Tucht, Calvin; Schouten, Meyke; Ruck, Tobias; Schara-Schmidt, Ulrike; Kamsteeg, Erik-Jan; Ramadža, Danijela Petković; Jakovčević, Antonia; Žigman, Tamara; Čavka, Mislav; Karcagi, Veronika; Herczegfalvi, Agnes; Laurie, Steven; Matalonga, Leslie; Beltran, Sergi; Horvath, Rita; Voermans, Nicol; Roos, Andreas; Barić, Ivo; Lochmüller, Hanns

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horáková, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy

病例报告:致病性PNPLA2变异和无义介导的mRNA衰变导致早发性中性脂质贮积症伴肌病

Missaglia, Sara; Martegani, Eleonora; Angelini, Corrado; Horvath, Rita; Karcagi, Veronika; Pal, Endre; Tavian, Daniela

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Perić, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies

先天性和肢带型肌营养不良症中福库汀相关蛋白(FKRP)变体的错误折叠

Esapa, Christopher T; McIlhinney, R A Jeffrey; Waite, Adrian J; Benson, Matthew A; Mirzayan, Jasmin; Piko, Henriett; Herczegfalvi, Ágnes; Horvath, Rita; Karcagi, Veronika; Walter, Maggie C; Lochmüller, Hanns; Rizkallah, Pierre J; Lu, Qi L; Blake, Derek J

Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals

病例报告:DNAJC30基因突变导致常染色体隐性遗传性Leber遗传性视神经病变在东欧人群中较为常见

Major, Toby Charles; Arany, Eszter Sara; Schon, Katherine; Simo, Magdolna; Karcagi, Veronika; van den Ameele, Jelle; Yu Wai Man, Patrick; Chinnery, Patrick F; Olimpio, Catarina; Horvath, Rita

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

扩大 ATP6V1A 相关代谢性皮肤松弛症的临床和分子谱

Guido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, Heike Kölbel, Anja Lekaj, Ulrike Schara, Manuel Holtgrewe, Sabine Krause, Rita Horvath, Markus Schuelke, Christoph Hübner, Stefan Mundlos, Andreas Roos, Hanns Lochmüller, Veronika Karcagi, Uwe Kornak, Björn Fischer-Zirnsak

Deuterium-depletion has no significant impact on the mutation rate of Escherichia coli, deuterium abundance therefore has a probabilistic, not deterministic effect on spontaneous mutagenesis

氘耗竭对大肠杆菌的突变率没有显著影响,因此氘丰度对自发诱变具有概率性而非确定性的影响

Walliyulahi Ajibola, Ildikó Karcagi, Gábor Somlyai, Ildikó Somlyai, Tamás Fehér

Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations

对携带母系和父系前突变的卵巢早衰综合征遗传模式的研究

Beke, Artur; Piko, Henriett; Haltrich, Iren; Karcagi, Veronika; Rigo, Janos Jr; Molnar, Maria Judit; Fekete, György

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database

杜氏肌营养不良症的临床结局:一项来自 TREAT-NMD DMD 全球数据库的 5345 例患者的研究

Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lähdetie, Jaana; Walter, Maggie C; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Ferlini, Alessandra; Kimura, En; van den Bergen, Janneke C; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Klein, Andrea; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, A Ayşe; Oznur, Tunca; Topaloğlu, Haluk; El Sherif, Rasha; Stringer, Angela; Shatillo, Andriy V; Martin, Ann S; Peay, Holly L; Kirschner, Jan; Flanigan, Kevin M; Straub, Volker; Bushby, Kate; Béroud, Christophe; Verschuuren, Jan J; Lochmüller, Hanns