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

Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

全基因组关联研究揭示吉尔·德·拉·图雷特综合征的新基因位点

Tsetsos, Fotis; Topaloudi, Apostolia; Jain, Pritesh; Yang, Zhiyu; Yu, Dongmei; Kolovos, Petros; Tumer, Zeynep; Rizzo, Renata; Hartmann, Andreas; Depienne, Christel; Worbe, Yulia; Müller-Vahl, Kirsten R; Cath, Danielle C; Boomsma, Dorret I; Wolanczyk, Tomasz; Zekanowski, Cezary; Barta, Csaba; Nemoda, Zsofia; Tarnok, Zsanett; Padmanabhuni, Shanmukha S; Buxbaum, Joseph D; Grice, Dorothy; Glennon, Jeffrey; Stefansson, Hreinn; Hengerer, Bastian; Yannaki, Evangelia; Stamatoyannopoulos, John A; Benaroya-Milshtein, Noa; Cardona, Francesco; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Mir, Pablo; Morer, Astrid; Mueller, Norbert; Munchau, Alexander; Plessen, Kerstin J; Porcelli, Cesare; Roessner, Veit; Walitza, Susanne; Schrag, Anette; Martino, Davide; Tischfield, Jay A; Heiman, Gary A; Willsey, A Jeremy; Dietrich, Andrea; Davis, Lea K; Crowley, James J; Mathews, Carol A; Scharf, Jeremiah M; Georgitsi, Marianthi; Hoekstra, Pieter J; Paschou, Peristera

Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

基于多基因风险评分的全表型关联研究发现了图雷特综合征的新关联。

Jain, Pritesh; Miller-Fleming, Tyne; Topaloudi, Apostolia; Yu, Dongmei; Drineas, Petros; Georgitsi, Marianthi; Yang, Zhiyu; Rizzo, Renata; Müller-Vahl, Kirsten R; Tumer, Zeynep; Mol Debes, Nanette; Hartmann, Andreas; Depienne, Christel; Worbe, Yulia; Mir, Pablo; Cath, Danielle C; Boomsma, Dorret I; Roessner, Veit; Wolanczyk, Tomasz; Janik, Piotr; Szejko, Natalia; Zekanowski, Cezary; Barta, Csaba; Nemoda, Zsofia; Tarnok, Zsanett; Buxbaum, Joseph D; Grice, Dorothy; Glennon, Jeffrey; Stefansson, Hreinn; Hengerer, Bastian; Benaroya-Milshtein, Noa; Cardona, Francesco; Hedderly, Tammy; Heyman, Isobel; Huyser, Chaim; Morer, Astrid; Mueller, Norbert; Munchau, Alexander; Plessen, Kerstin J; Porcelli, Cesare; Walitza, Susanne; Schrag, Anette; Martino, Davide; Dietrich, Andrea; Mathews, Carol A; Scharf, Jeremiah M; Hoekstra, Pieter J; Davis, Lea K; Paschou, Peristera

Genomic variants and inferred biological processes in multiplex families with Tourette syndrome

图雷特综合征多重家族的基因组变异及推断的生物学过程

Fichna, Jakub P; Borczyk, Małgorzata; Piechota, Marcin; Korostynski, Michał; Zekanowski, Cezary; Janik, Piotr

Can polygenic risk scores help explain disease prevalence differences around the world? A worldwide investigation

多基因风险评分能否帮助解释世界各地疾病患病率的差异?一项全球调查

Jain, Pritesh R; Burch, Myson; Martinez, Melanie; Mir, Pablo; Fichna, Jakub P; Zekanowski, Cezary; Rizzo, Renata; Tümer, Zeynep; Barta, Csaba; Yannaki, Evangelia; Stamatoyannopoulos, John; Drineas, Petros; Paschou, Peristera

A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes

一名患有皮质基底节综合征和进行性非流利性失语症 (CBS-PNFA) 的患者,患有 ATP7B、SETX、SORL1 和 FOXP1 基因变异

Katarzyna Gaweda-Walerych, Emilia J Sitek, Małgorzata Borczyk, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Michał Schinwelski, Mariusz Siemiński, Jarosław Sławek, Cezary Zekanowski

Parkin Levels Decrease in Fibroblasts With Progranulin (PGRN) Pathogenic Variants and in a Cellular Model of PGRN Deficiency.

在具有前粒蛋白 (PGRN) 致病变异的成纤维细胞和 PGRN 缺乏的细胞模型中,Parkin 水平降低

Gaweda-Walerych Katarzyna, Walerych Dawid, Berdyński Mariusz, Buratti Emanuele, Zekanowski Cezary

Two Rare Variants in PLAU and BACE1 Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?

PLAU 和 BACE1 基因中的两种罕见变异——它们会导致语义痴呆临床表型吗?

Katarzyna Gaweda-Walerych, Emilia J Sitek, Małgorzata Borczyk, Mariusz Berdyński, Ewa Narożańska, Bogna Brockhuis, Michał Korostyński, Jarosław Sławek, Cezary Zekanowski

A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy

法呢基转移酶抑制剂可激活溶酶体并减少患有 tau 蛋白病的小鼠的 tau 病理

Israel Hernandez, Gabriel Luna, Jennifer N Rauch, Surya A Reis, Michel Giroux, Celeste M Karch, Daniel Boctor, Youssef E Sibih, Nadia J Storm, Antonio Diaz, Susmita Kaushik, Cezary Zekanowski, Alexander A Kang, Cassidy R Hinman, Vesna Cerovac, Elmer Guzman, Honjun Zhou, Stephen J Haggarty, Alison M

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

全外显子组测序在波兰肢带型肌营养不良症患者中鉴定出新的致病突变和可能影响表型的变异。

Fichna, Jakub Piotr; Macias, Anna; Piechota, Marcin; Korostyński, Michał; Potulska-Chromik, Anna; Redowicz, Maria Jolanta; Zekanowski, Cezary

A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure

一家族性肌原纤维肌病中发现的新型显性D109A CRYAB突变影响αB-晶状体蛋白结构

Fichna, Jakub P; Potulska-Chromik, Anna; Miszta, Przemysław; Redowicz, Maria Jolanta; Kaminska, Anna M; Zekanowski, Cezary; Filipek, Sławomir