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

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际注册研究:临床、遗传和影像学视角

Nou-Fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-Villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-Villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Díaz-Gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Möller, Patricia Dumke; Garcia-Navas Nuñez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Łukasz; Õunap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-Osorio, Milena; Yilmaz, Sanem; Zádori, Dénes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; de Natera-de Benito, Daniel; Casas-Alba, Dídac; Soliani, Luca; de Gusmao, Claudio M; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, José C; Magrinelli, Francesca; Bhatia, Kailash P; Ebrahimi-Fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, João Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-Escobar, Juan Darío

Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia

超越SGCE:扩展KCTD17和KCNN2相关肌阵挛-肌张力障碍的临床和分子谱

Krygier, Magdalena; Sitek, Emilia J; Chylińska, Magdalena; Ziętkiewicz, Szymon; Zawadzka, Marta; Dulski, Jarosław; Schinwelski, Michał; Kostrzewa, Grażyna; Wierzba, Jolanta; Płoski, Rafał; Zech, Michael; Mazurkiewicz-Bełdzińska, Maria

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

扩大与线粒体腺苷三磷酸合成酶缺陷相关的运动障碍的等位基因和临床异质性

Harrer Philip, Krygier Magdalena, Krenn Martin, Kittke Volker, Danis Martin, Krastev Georgi, Saparov Alice, Pichon Virginie, Malbos Marlène, Scherer Clarisse, Dzinovic Ivana, Skorvanek Matej, Kopajtich Robert, Prokisch Holger, Silvaieh Sara, Grisold Anna, Mazurkiewicz-Bełdzińska Maria, de Sainte Agathe Jean-Madeleine, Winkelmann Juliane, Necpal Jan, Jech Robert, Zech Michael

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study

阿米替林在携带KCNQ2/3功能获得性变异个体中的应用:一项回顾性队列研究

De Wachter, Matthias; Millevert, Charissa; Nicolai, Joost; Cats, Elisabeth; Kluger, Gerhard; Milh, Mathieu; Cloarec, Robin; Syrbe, Steffen; Arts, Katrijn; Jansen, Katrien; Krygier, Magdalena; Smigiel, Robert; Auvin, Stephane; Olofson, Kern; Gjerulfsen, Cathrine Elisabeth; Ceulemans, Berten; Møller, Rikke S; Bayat, Allan; Weckhuysen, Sarah

New Progressive Generalized Dystonia Phenotype in a Patient with NBEA-Related Neurodevelopmental Disease

NBEA相关神经发育疾病患者出现新的进行性全身性肌张力障碍表型

Schinwelski, Michał; Krygier, Magdalena; Sitek, Emilia J; Mazurkiewicz-Bełdzińska, Maria; Zech, Michael

ACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited

ACTB相关肌张力障碍-耳聋综合征对DBS GPi治疗反应良好,再次探讨

Kasprzak, Jakub; Dulski, Jarosław; Schinwelski, Michał; Krygier, Magdalena; Zech, Michael; Sławek, Jarosław

Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)(n) repeats

性别对亨廷顿病平均发病年龄的影响取决于(CAG)(n)重复序列的数量。

Stanisławska-Sachadyn, Anna; Krzemiński, Michał; Zielonka, Daniel; Krygier, Magdalena; Ziętkiewicz, Ewa; Sławek, Jarosław; Limon, Janusz

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

一种新的从头突变型FEM1C基因变异与神经发育障碍相关,该障碍表现为语言缺失、锥体束征和肢体共济失调。

Dubey, Abhishek Anil; Krygier, Magdalena; Szulc, Natalia A; Rutkowska, Karolina; Kosińska, Joanna; Pollak, Agnieszka; Rydzanicz, Małgorzata; Kmieć, Tomasz; Mazurkiewicz-Bełdzińska, Maria; Pokrzywa, Wojciech; Płoski, Rafał

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications

对癫痫患儿进行新一代测序检测揭示了新的临床、诊断和治疗意义。

Krygier, Magdalena; Pietruszka, Marta; Zawadzka, Marta; Sawicka, Agnieszka; Lemska, Anna; Limanówka, Monika; Żurek, Jan; Talaśka-Liczbik, Weronika; Mazurkiewicz-Bełdzińska, Maria