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

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

Incremental yield of exome sequencing over standard prenatal testing in structurally normal fetuses: systematic review and meta-analysis

外显子组测序在结构正常胎儿中相对于标准产前检测的增量收益:系统评价和荟萃分析

Sotiriadis, A; Demertzidou, E; Ververi, A; Tsakmaki, E; Chatzakis, C; Mone, F

When Genes Reveal the Truth: Alport Syndrome Mimicking Steroid-Resistant Nephrotic Syndrome

基因揭示真相:阿尔波特综合征酷似类固醇抵抗性肾病综合征

Dotis, John; Kondou, Antonia; Liapis, George; Ververi, Athina; Kollios, Konstantinos; Printza, Nikoleta

Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene

歌舞伎综合征:一例由KMT2D基因新变异引起的严重产前中面部发育不全(Binder表型)病例报告

Gatsis, Athanasios; Alvanou, Maria; Christidou, Elisavet; Demertzidou, Eleftheria; Kontou, Aggeliki; Stathopoulou, Theodora; Sarafidis, Kosmas; Sotiriadis, Alexandros; Ververi, Athina

Clinical and genetic diagnosis and management of Silver-Russell syndrome: Report of four cases

Silver-Russell综合征的临床和遗传诊断及治疗:四例报告

Toulia, Ilektra; Savvidou, Parthena; Ververi, Athina; Grammatikopoulou, Maria G; Kosta, Konstantina; Tziaferi, Vaya; Antachopoulos, Charalampos; Goulis, Dimitrios G; Sotiriadis, Alexandros; Tsiroukidou, Kyriaki

Partial loss of FITM2 function causes hereditary spastic paraplegia

FITM2功能部分丧失会导致遗传性痉挛性截瘫

Salazar-Villacorta, Ainara; Bond, Laura M; Kim, Leehyeon; Anagnostopoulou, Katherine; Scardamaglia, Annarita; Filippakopoulou, Eugenia; Ververi, Athina; Efthymiou, Stephanie; Dinopoulos, Argirios; Murphy, David; Karadima, Georgia; Koutsis, Georgios; Kaliakatsos, Marios; Houlden, Henry; Walther, Tobias C; Farese, Robert V

Human Breast Milk miRNAs: Investigation of Association Between Breastfeeding Children and Maternal Obesity in Obesity Development in Offspring

人乳miRNA:母乳喂养儿童与母亲肥胖对后代肥胖发展的影响研究

Chondrogianni, Marina; Lithoxopoulou, Maria; Ververi, Athina; Lampropoulos, Alexandros; Sotiriadis, Alexandros; Kolibianakis, Eystratios

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

翻译GTP酶GTPBP1和GTPBP2的双等位基因变异会导致一种独特的、相同的神经发育综合征。

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry

X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

一名7岁女孩患有舟状头畸形、I型Chiari综合征和脊髓空洞症,并因新生剪接位点变异导致X连锁低磷血症。

Fourikou, Maria; Karipiadou, Aristea; Ververi, Athina; Savvidou, Parthena; Laliotis, Nikolaos; Tsitouras, Vassilios; Stabouli, Stella; Roilides, Emmanuel; Kollios, Konstantinos

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1

希腊一个患有坎图综合征的家族中发现了一种新的ABCC9变异,该综合征影响了多代人,这凸显了SUR2B NBD1的功能作用。

Gao, Jian; Ververi, Athina; Thompson, Ellen; Tryon, Rob; Sotiriadis, Alexandros; Rouvalis, Fotios; Grange, Dorothy K; Giannios, Christos; Nichols, Colin G