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

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

ACTA1-Related Adult-Onset Scapuloperoneal Myopathy With Cores and Rods

ACTA1相关成人起病肩胛腓骨肌病伴核心和棒状结构

Caramizaru, Alexandru; Onnée, Marion; Nikitin, Sergey; Dobrescu, Amelia; Severa, Gianmarco; Murtazina, Aysylu; Urtizberea, Andoni; Lefaucheur, Jean-Pascal; Carlier, Robert-Yves; Metay, Corinne; Malfatti, Edoardo

Plasma versus serum: which is better for proteomic blood biomarker analysis? Evaluation of the novel NULISA platform

血浆与血清:哪种更适合蛋白质组学血液生物标志物分析?新型NULISA平台的评估

Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger; Song, Yeunjoo E; Wang, Ping; Laux, Renee A; Fuzzell, Sarada L; Hochstetler, Sherri D; Miskimen, Kristy L; Lynn, Audrey; Wang, Weihuan; Liu, Yining; Moore, Noel C; Gulyayev, Alex V; Dorfsman, Daniel A; Caywood, Laura J; Clouse, Jason E; Herington, Sharlene D; Prough, Michael B; Slifer, Susan H; Adams, Larry D; Whitehead, Patrice G; Vance, Jeffery M; Cuccaro, Michael L; Ogrocki, Paula K; Lerner, Alan J; Pericak‐Vance, Margaret; Scott, William K; Bush, William S; Haines, Jonathan L; Griswold, Anthony J; Akinyemi, Rufus O; Rajabli, Farid; Ayele, Biniyam A; Coker, Motunrayo; Scott, Kyle M; Akinwande, Kazeem; Adams, Larry D; Diala, Samuel; Whitehead, Patrice G; McCauley, Jacob L; Ogunronbi, Mayowa; Hamilton‐Nelson, Kara L; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; NJAMNSHI, Alfred Kongnyu; Caban‐Holt, Allison M; Ndetei, David; Sarfo, Fred Stephen; Akinyemi, Joshua O; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; Gugssa, Seid Ali; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Walker, Richard; Mena, Pedro R; Okubadejo, Njideka U; Martinez, Izri M; Kunkle, Brian W; Paddick, Stella‐Maria; Kalaria, Raj; Ogunniyi, Adesola; Vance, Jeffery M; Reitz, Christiane; Seshadri, Sudha; Guerchet, Maëlenn; Tosto, Giuseppe; Williams, Scott M; Bush, William S; Haines, Jonathan L; Byrd, Goldie S; Pericak‐Vance, Margaret; Farinas, Marissa F; Chen, Yijun; Zeng, Xuemei; Nafash, Michel N; Gogola, Alexandra; Kofler, Julia K; Tudorascu, Dana L; Shaaban, C Elizabeth; Lingler, Jennifer H; Pascoal, Tharick A; Klunk, William E; Villemagne, Victor L; Berman, Sarah B; Sweet, Robert; Kamboh, M Ilyas; Ikonomovic, Milos D; Snitz, Beth E; Cohen, Ann D; Lopez, Oscar L; Karikari, Thomas K

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation

俄罗斯联邦LAMA2基因致病变异谱

Chausova, Polina; Cherevatova, Tatiana; Dadali, Elena; Murtazina, Aysylu; Bulakh, Maria; Kurbatov, Sergei; Anisimova, Inga; Kanivets, Ilya; Udalova, Vasilisa; Rudenskaya, Galina; Demina, Nina; Sharkova, Inna; Monakhova, Anastasia; Tsygankova, Polina; Markova, Tatiana; Ryzhkova, Oksana; Shatohina, Olga; Galkina, Varvara; Borovikov, Artem; Mishina, Irina; Shchagina, Olga; Chukhrova, Alena; Polyakov, Aleksander

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene

LMNA基因内含子8供体剪接位点变异导致层粘蛋白病表型多样性的基础

Shchagina, Olga; Gilazova, Leisan; Filatova, Alexandra; Vafina, Zulfiia; Murtazina, Aysylu; Chigvintceva, Polina; Kudryashova, Olga; Polyakov, Aleksander; Kutsev, Sergey; Bulakh, Maria; Skoblov, Mikhail

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases

涉及DMD基因的平衡易位是导致女性儿童肌营养不良症的原因:三例病例报告

Vorontsova, Ekaterina O; Murtazina, Aysylu; Zinina, Elena; Polyakov, Alexander V; Sumina, Maria; Rybakova, Olga A; Vlodavets, Dmitry; Kazakov, Dmitry; Suvorova, Yulia; Sharkova, Inna V; Demina, Nina A; Repina, Svetlana A; Bulanova, Vera A; Antonova, Maria; Dadali, Elena; Marakhonov, Andrey V; Shilova, Nadezhda V; Kutsev, Sergey I; Shchagina, Olga A

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

病例报告:腺苷酸琥珀酸裂解酶缺乏症 I 型,由 ADSL 基因中一种新的错义变异导致的剪接紊乱引起

Borovikov, Artem; Davydenko, Ksenia; Murtazina, Aysylu; Sharkov, Artem; Kanivets, Ilya; Filatova, Alexandra; Skoblov, Mikhail

Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders

病例报告:常染色体显性遗传远端运动神经病是KIF21A相关疾病的一种新表型

Subbotin, Dmitrii; Tatarskiy, Eugene; Kuchina, Anna; Cherevatova, Tatiana; Krylova, Tatiana; Ryzhkova, Oksana; Skoblov, Mikhail; Murtazina, Aysylu

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects

北奥塞梯-阿兰共和国杜氏肌营养不良症:流行病学研究、诊断问题和治疗前景

Zinchenko, Rena; Tebieva, Inna; Murtazina, Aysylu; Ionova, Sofya; Zhmurova-Kriventsova, Alisa; Shchagina, Olga; Zinina, Elena; Gabisova, Yulia; Khokhova, Alana; Tokazova, Marina; Ikaev, Murat; Remizov, Oleg; Popovich, Sofia; Kuzenkova, Ludmila; Marakhonov, Andrey; Kutsev, Sergey

Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene

线粒体复合物IV缺乏症核型11是由COX20基因中一种新的起始密码子缺失变异引起的

Kuchina, Anna; Borovikov, Artem; Sidorova, Olga; Orlova, Maria; Ryzhkova, Oxana; Zaigrin, Igor; Murtazina, Aysylu