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

Evidence That Dmrta2 Acts through Repression of Pax6 in Cortical Patterning and Identification of a Mutation Impairing DNA Recognition Associated with Microcephaly in Human

Dmrta2通过抑制Pax6在皮层模式形成中发挥作用的证据,以及人类小头畸形相关DNA识别障碍突变的鉴定

Xueyi Shen,Jithu Anirudhan,Ambrin Fatima,Estelle Plant,Tünde Szemes,Zélie Bouveret,Marc Keruzore,Sadia Kricha,Xinsheng Nan,Alba Sabaté San José,Samuel Bianchin,Bérénice Veraghen,Louis-Paul Delhaye,Bilal Ahmad Mian,Lubaba Bintee Khalid,Farhan Ali,Hijab Zahra,Asmat Ali,Mathias Toft,Marc Dieu,Younes Achouri,Meng Li,Patricia Renard,Carine Van Lint,Coralie Poulard,Zafar Iqbal,Eric J Bellefroid

Genome-wide determinants of mortality and motor progression in Parkinson's disease

帕金森病死亡率和运动功能进展的全基因组决定因素

Manuela M X Tan ,Michael A Lawton ,Miriam I Pollard ,Emmeline Brown ,Raquel Real ,Alejandro Martinez Carrasco ,Samir Bekadar ,Edwin Jabbari ,Regina H Reynolds ,Hirotaka Iwaki ,Cornelis Blauwendraat ,Sofia Kanavou ,Leon Hubbard ,Naveed Malek ,Katherine A Grosset ,Nin Bajaj ,Roger A Barker ,David J Burn ,Catherine Bresner ,Thomas Foltynie ,Nicholas W Wood ,Caroline H Williams-Gray ,Ole A Andreassen ,Mathias Toft ,Alexis Elbaz ,Fanny Artaud ,Alexis Brice ,Jean-Christophe Corvol ,Jan Aasly ,Matthew J Farrer ,Michael A Nalls ,Andrew B Singleton ,Nigel M Williams ,Yoav Ben-Shlomo ,John Hardy ,Michele T M Hu ,Donald G Grosset ,Maryam Shoai ,Lasse Pihlstrøm ,Huw R Morris

Transcriptomic profiling of Parkinson's disease brains reveals disease stage specific gene expression changes

帕金森病大脑的转录组分析揭示了疾病阶段特异性基因表达变化

Chiara Cappelletti, Sandra Pilar Henriksen, Hanneke Geut, Annemieke J M Rozemuller, Wilma D J van de Berg, Lasse Pihlstrøm, Mathias Toft

Epigenome-wide association study of peripheral immune cell populations in Parkinson's disease

帕金森病外周免疫细胞群的表观基因组关联研究

Maren Stolp Andersen, Ingvild Sørum Leikfoss, Ina Skaara Brorson, Chiara Cappelletti, Conceicao Bettencourt, Mathias Toft, Lasse Pihlstrøm

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

家族性帕金森病中的新型致病性 LRRK2 p.Asn1437His 替代

Jan O Aasly, Carles Vilariño-Güell, Justus C Dachsel, Philip J Webber, Andrew B West, Kristoffer Haugarvoll, Krisztina K Johansen, Mathias Toft, John G Nutt, Haydeh Payami, Jennifer M Kachergus, Sarah J Lincoln, Amela Felic, Christian Wider, Alexandra I Soto-Ortolaza, Stephanie A Cobb, Linda R White