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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

多聚(RC)结合蛋白基因PCBP1的从头突变会导致神经发育障碍

Deb, Wallid; Besnard, Thomas; Desprez, Florence; Cogné, Benjamin; Do Souto Ferreira, Laura; Vignard, Virginie; Marouillat, Sylviane; Januel, Louis; Gorokhova, Svetlana; Busa, Tiffany; Morel, Victor; Dauriat, Benjamin; Desportes, Vincent; Slavotinek, Anne M; An, Yu; Lee, Hane; Hary, Jessy; Kannu, Peter; Athey, Taryn B; van de Laar, Ingrid M B H; van Slegtenhorst, Marjon A; Dickson, Patricia; Muir, Alison M; Buchert, Rebecca; Haack, Tobias B; Imort, Dominic; Sousa, Sérgio B; Xavier, Belinda; Almeida, Pedro M; Rogac, Mihael; Peterlin, Borut; Kaspar, Sophie; Netzer, Christian; Zempel, Hans; Towne, Meghan C; Ladda, Roger L; Sell, Susan S; Gawlinski, Pawel; Song, Xiaofei; Wiszniewski, Wojciech; Calame, Daniel G; Posey, Jennifer E; Ebstein, Frederic; Lupski, James R; Isidor, Bertrand; Bézieau, Stéphane; Laumonnier, Frédéric; Küry, Sébastien

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

CSMD1 中的双等位基因变异与一种神经发育障碍有关,该障碍会导致智力障碍和各种皮质畸形

Elizabeth A Werren, Emily R Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K L I van Gassen, Jacques C Giltay, Re

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism

先天性辅酶Q5相关疾病:致病基因关联、核心表型和分子机制

Dawidziuk, Mateusz; Podwysocka, Aleksandra; Jurek, Marta; Obersztyn, Ewa; Bekiesinska-Figatowska, Monika; Goszczanska-Ciuchta, Alicja; Bukowska-Olech, Ewelina; Rygiel, Agnieszka Magdalena; Guilbride, Dorothy Lys; Wiszniewski, Wojciech; Gawlinski, Pawel

A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly

用于研究人类小头畸形的斑马鱼/果蝇双系统模型

Bartoszewski, Slawomir; Dawidziuk, Mateusz; Kasica, Natalia; Durak, Roma; Jurek, Marta; Podwysocka, Aleksandra; Guilbride, Dorothy Lys; Podlasz, Piotr; Winata, Cecilia Lanny; Gawlinski, Pawel

Molecular Markers in Maternal Blood Exosomes Allow Early Detection of Fetal Alcohol Spectrum Disorders

母体血液外泌体中的分子标记可早期检测胎儿酒精谱系障碍

Nune Darbinian, Armine Darbinyan, John Sinard, Gabriel Tatevosian, Nana Merabova, Faith D'Amico, Tarek Khader, Ahsun Bajwa, Diana Martirosyan, Alina K Gawlinski, Richa Pursnani, Huaqing Zhao, Shohreh Amini, Mary Morrison, Laura Goetzl, Michael E Selzer

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

外显子组测序揭示了新的变异,并扩展了先天性小头畸形的遗传图谱

Dawidziuk, Mateusz; Gambin, Tomasz; Bukowska-Olech, Ewelina; Antczak-Marach, Dorota; Badura-Stronka, Magdalena; Buda, Piotr; Budzynska, Edyta; Castaneda, Jennifer; Chilarska, Tatiana; Czyzyk, Elzbieta; Eckersdorf-Mastalerz, Anna; Fijak-Moskal, Jolanta; Gieruszczak-Bialek, Dorota; Glodek-Brzozowska, Ewelina; Goszczanska-Ciuchta, Alicja; Grzeszykowska-Podymniak, Malgorzata; Gurda, Barbara; Jakubiuk-Tomaszuk, Anna; Jamroz, Ewa; Janeczko, Magdalena; Jedlińska-Pijanowska, Dominika; Jurek, Marta; Karolewska, Dagmara; Kazmierczak, Adela; Kleist, Teresa; Kochanowska, Iwona; Krajewska-Walasek, Malgorzata; Kufel, Katarzyna; Kutkowska-Kaźmierczak, Anna; Lipiec, Agata; Maksym-Gasiorek, Dorota; Materna-Kiryluk, Anna; Mazurkiewicz, Hanna; Milewski, Michał; Pavina-Guglas, Tatsiana; Pietrzyk, Aleksandra; Posmyk, Renata; Pyrkosz, Antoni; Rudzka-Dybala, Mariola; Slezak, Ryszard; Wisniewska, Marzena; Zalewska-Miszkurka, Zofia; Szczepanik, Elzbieta; Obersztyn, Ewa; Bekiesinska-Figatowska, Monika; Gawlinski, Pawel; Wiszniewski, Wojciech

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

CEP85L 对后新皮质神经元迁移的特异性调节确定了 CDK5 的母体中心粒依赖性激活

Andrew Kodani, Connor Kenny, Abbe Lai, Dilenny M Gonzalez, Edward Stronge, Gabrielle M Sejourne, Laura Isacco, Jennifer N Partlow, Anne O'Donnell, Kirsty McWalter, Alicia B Byrne, A James Barkovich, Edward Yang, R Sean Hill, Pawel Gawlinski, Wojciech Wiszniewski, Julie S Cohen, S Ali Fatemi, Kristin

The Brazilian-Portuguese version of the Sleep Hygiene Index (SHI): validity, reliability and association with depressive symptoms and sleep-related outcomes

睡眠卫生指数(SHI)的巴西葡萄牙语版本:效度、信度及其与抑郁症状和睡眠相关结果的关联性

Tonon, André Comiran; Amando, Guilherme Rodriguez; Carissimi, Alicia; Freitas, Juliana Jury; Xavier, Nicóli Bertuol; Caumo, Guilherme Hidalgo; Silva, Luka Gawlinski; de Souza, Diogo Onofre Gomes; Hidalgo, Maria Paz