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

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

COX18 的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。

Armirola-Ricaurte Camila, Morant Laura, Adant Isabelle, Hamed Sherifa A, Pipis Menelaos, Efthymiou Stephanie, Amor-Barris Silvia, Atkinson Derek, Van de Vondel Liedewei, Tomic Aleksandra, Seneca Sara, de Vriendt Els, Zuchner Stephan, Ghesquiere Bart, Hanna Michael G, Houlden Henry, Lunn Michael P, Reilly Mary M, Milic Rasic Vedrana, Jordanova Albena

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria

NDRG1基因中新型创始突变的鉴定和表征:完善保加利亚夏科-马里-图斯病4D型的遗传图谱

Atkinson, Derek; Chamova, Teodora; Candayan, Ayse; Kastreva, Kristina; Asenov, Ognian; Litvinenko, Ivan; Estrada-Cuzcano, Alejandro; De Vriendt, Els; Kukushev, Georgi; Tournev, Ivailo; Jordanova, Albena

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

COX18基因的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。

Armirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa Ahmed; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael; Houlden, Henry; Lunn, Michael P; Reilly, Mary M; Rasic, Vedrana Milic; Jordanova, Albena

Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

一项针对常染色体隐性遗传周围神经病病例的遗传调查揭示了土耳其人群中存在高度遗传异质性

Candayan, Ayşe; Çakar, Arman; Yunisova, Gulshan; Özdağ Acarlı, Ayşe Nur; Atkinson, Derek; Topaloğlu, Pınar; Durmuş, Hacer; Yapıcı, Zuhal; Jordanova, Albena; Parman, Yeşim; Battaloğlu, Esra

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

鞘氨醇-1-磷酸裂解酶缺乏症会导致夏科-马里-图斯神经病

Atkinson Derek, Nikodinovic Glumac Jelena, Asselbergh Bob, Ermanoska Biljana, Blocquel David, Steiner Regula, Estrada-Cuzcano Alejandro, Peeters Kristien, Ooms Tinne, De Vriendt Els, Yang Xiang-Lei, Hornemann Thorsten, Milic Rasic Vedrana, Jordanova Albena

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

利用纯合性作图方法揭示常染色体隐性遗传性夏科-马里-图斯神经病的遗传图谱

Zimoń, Magdalena; Battaloğlu, Esra; Parman, Yesim; Erdem, Sevim; Baets, Jonathan; De Vriendt, Els; Atkinson, Derek; Almeida-Souza, Leonardo; Deconinck, Tine; Ozes, Burcak; Goossens, Dirk; Cirak, Sebahattin; Van Damme, Philip; Shboul, Mohammad; Voit, Thomas; Van Maldergem, Lionel; Dan, Bernard; El-Khateeb, Mohammed S; Guergueltcheva, Velina; Lopez-Laso, Eduardo; Goemans, Nathalie; Masri, Amira; Züchner, Stephan; Timmerman, Vincent; Topaloğlu, Haluk; De Jonghe, Peter; Jordanova, Albena

Clinical use of pharmacogenomics

药物基因组学的临床应用

Amianti, Carolina; Bandeira, Larissa Melo; Lorenz, Aline Pedroso; Tanaka, Tayana Serpa Ortiz; Domingos, João Américo; Motta-Castro, Ana Rita Coimbra; van Montfort, Thijs; Melchers, Mark; van Capel, Tony MM; de Jong, Ester C; Paxton, William A; Sanders, Rogier W; Stax, Martijn J; Kootstra, Neeltje A; van't Wout, Angélique B; Bakker, Margreet; Pollakis, Georgios; Paxton, William A; van den Kerkhof, Tom; van Gils, Marit; Euler, Zelda; Verwer, Naomi; Sanders, Rogier; Schuitemaker, Hanneke; Snoek, Joke; Casado, Concepción; Colombo, Sara; Rauch, Andri; García, Soledad; Martinez, Raquel; Theys, Kristof; Khouri, Ricardo; Günthard, Huldrych F; Telenti, Amalio; López-Galíndez, Cecilio; Vandamme, Anne-Mieke; Garbati, Musa A; Abba, Abdullah A; Kabrang, Danjuma N; Yusuph, Haruna; Singh, Udaya Pratap; Singh, Ramendra K; Mullins, James I; Heath, Laura; Hughes, James P; Li, Deyu; Essigmann, John M; Harris, Kevin S; Simpson, Jeffrey H; Laurent, Jean-Pierre; Loeb, Lawrence A; Parkins, Jeff; Laska, Magdalena Janina; Brudek, Tomasz; Nissen, Kari Konstantin; Christensen, Tove; Larsen, Anne Møller; Petersen, Thor; Nexø, Bjørn Andersen; Pasternak, Alexander O; de Bruin, Marijun; Jurriaans, Suzanne; Bakker, Margreet; Berkhout, Ben; Prins, Jan M; Lukashov, Vladimir V; Ariën, Kevin K; Venkatraj, Muthusamy; Míchiels, Johan; Joossens, Jurgen; der Veken, PieterVan; Heeres, Jan; Abdellati, Said; Cuylaerts, Vicky; Crucitti, Tania; Lewi, Paul; Augustyns, Koen; Vanham, Guido; Sitbon, Marc; Abe, Hiroyuki; Courgnaud, Valérie; Giovannini, Donatella; Kim, Felix; Lavanya, Madakasira; Manel, Nicolas; Touhami, Jawida; Switzer, Wiliam M; Castelnau, Pierre; Lagrue, Emmanuelle; Nadal-Desbarats, Lydie; de Guillen, Karine; Roumestand, Christian; Battini, Jean-Luc; Jacquelin, Béatrice; Mayau, Véronique; Targat, Brice; Liovat, Anne-Sophie; Kunkel, Désirée; Petitjean, Gaël; Dillies, Marie-Agnès; Roques, Pierre; Butor, Cécile; Giavedoni, Luis D; Lebon, Pierre; Barré-Sinoussi, Françoise; Benecke, Arndt; Müller-Trutwin, Michaela C; Chongjian, Wang; Yuqian, Li; Weihua, He; Xiaodong, Zhang; Yihua, Xu; Shaofa, Nie; Tuaillon, Edouard; Mutasa, Kuda; Rubbo, Pierre-Alain; Choteau, Laura; Naudan, Florence; Bollore, Karine; Vendrell, Jean-Pierre; Perre, Philippe Van de; Bee, Ernree Muku; Barbu, Ernlee M; Nagbe, Wede M; Perry, Oretha; Seekey, Wede; Quaqua, Monica; Gobeh, Mawen; Woods, Diasajou; Shannon, Fulton; Kennedy, Stephen B; Fahnbulleh, Pearl; Jones, R Brad; Garrison, Keith E; Song, Haihan; Buzdin, Anton; Anwar, Naveed; Meiklejohn, Duncan A; Ndhlovu, Lishomwa C; Nixon, Douglas F; Ostrowski, Mario A; Didierlaurent, Ludovic; Houzet, Laurent; Paillart, Jean-Christophe; Morichaud, Zakia; Smagulova, Fatima; Maurel, Stephan; Marquet, Roland; Mougel, Marylène; Massoud, Raya; Van Gulck, Ellen; Van Tendeloo, Viggo F; Vlieghe, Erika; Vekemans, Marc; Van de Velde, Ann; Smits, Evelien; Anguilie, Sébastien; Cools, Nathalie; Stein, Barbara; Nijs, Griet; Goossens, Herman; Mertens, Liesbet; De Haes, Winni; Merlin, Céline; Atkinson, Derek; Wong, Johnsson; Florence, Eric; Vanham, Guido; Berneman, Zwi N; Groot, Fedde; Russell, Rebecca A; Baxter, Amy E; Welsch, Sonja; Duncan, Christopher JA; Willberg, Christopher; Ochsenbauer, Christina; Kappes, John C; Shaw, Michael; Sattentau, Quentin J; Dougier, Hei-Lanne; Lomparski, Christina; Villiers, Christian; Duperray, Alain; Bernard, Corinne; Jouvin-Marche, Evelyne; Perron, Hervé; Marche, Patrice N; Yu, Bing; Houzet, Laurent; Didierlaurent, Ludovic; Chamontin, Célia; Morichaud, Zakia; Darlix, Jean Luc; Mougel, Marylène; Hermine, Olivier; Pise-Masison, Cynthia; Telenti, Amalio