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

Clinical correlates of a negative cerebrospinal fluid α-synuclein seed amplification assay result in Parkinson's disease

帕金森病中脑脊液α-突触核蛋白种子扩增检测阴性结果的临床相关性

Mastrangelo, Andrea; Wurster, Isabel; Ticca, Alice; Lerche, Stefanie; Zenesini, Corrado; Röben, Benjamin; Mammana, Angela; Hauser, Ann-Kathrin; Ruggeri, Edoardo; Deuschle, Christian; Vittoriosi, Erica; Bentivenga, Giuseppe Mario; Schulte, Claudia; Capellari, Sabina; Brockmann, Kathrin; Parchi, Piero

Quantification of cerebrospinal fluid α-synuclein seeds by endpoint dilution seed amplification assay in Parkinson's disease

帕金森病中脑脊液α-突触核蛋白种子的终点稀释种子扩增检测

Brockmann, Kathrin; Ticca, Alice; Lerche, Stefanie; Mastrangelo, Andrea; Mammana, Angela; Wurster, Isabel; Vittoriosi, Erica; Roeben, Benjamin; Hauser, Ann-Kathrin; Deuschle, Christian; Baiardi, Simone; Schulte, Claudia; Gasser, Thomas; Parchi, Piero

Differences in age-related distribution of CSF alpha-synuclein seeding and Alzheimer profiles between PD with and without GBA1 variants.

GBA1 变异型帕金森病患者与非帕金森病患者在脑脊液 α-突触核蛋白播散和阿尔茨海默病特征的年龄相关分布方面存在差异

Lerche Stefanie, Wurster Isabel, Roeben Benjamin, Zimmermann Milan, Rossi Marcello, Mammana Angela, Baiardi Simone, Hauser Ann-Kathrin, Deuschle Christian, Schulte Claudia, Parchi Piero, Brockmann Kathrin

The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease

希腊家族性和散发性帕金森病患者中发现的新型p.A30G SNCA致病变异

Alefanti, Ioanna; Koros, Christos; Tsami, Viktoria; Simitsi, Athina Maria; Kartanou, Chrisoula; Papagiannakis, Nikolaos; Bozi, Maria; Antonelou, Roubina; Maniati, Matina; Hauser, Ann-Kathrin; Varvaressos, Stefanos; Bonakis, Anastasios; Lourentzos, Konstantinos; Makrythanasis, Periklis; Papageorgiou, Sokratis G; Proukakis, Christos; Potagas, Constantinos; Gasser, Thomas; Koutsis, Georgios; Karadima, Georgia; Stefanis, Leonidas

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights

剖析罕见肌张力障碍的遗传结构:遗传学、分子生物学和临床见解

Atasu, Burcu; Simón-Sánchez, Javier; Hanagasi, Hasmet; Bilgic, Basar; Hauser, Ann-Kathrin; Guven, Gamze; Heutink, Peter; Gasser, Thomas; Lohmann, Ebba

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study

精确的长读长测序技术在卢森堡帕金森病研究中发现GBA1是主要风险因素。

Pachchek, Sinthuja; Landoulsi, Zied; Pavelka, Lukas; Schulte, Claudia; Buena-Atienza, Elena; Gross, Caspar; Hauser, Ann-Kathrin; Reddy Bobbili, Dheeraj; Casadei, Nicolas; May, Patrick; Krüger, Rejko

Author Correction: Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study

作者更正:卢森堡帕金森病研究中,精确的长读长测序确定GBA1是主要风险因素。

Pachchek, Sinthuja; Landoulsi, Zied; Pavelka, Lukas; Schulte, Claudia; Buena-Atienza, Elena; Gross, Caspar; Hauser, Ann-Kathrin; Reddy Bobbili, Dheeraj; Casadei, Nicolas; May, Patrick; Krüger, Rejko

Linking the phenotype of SNCA Triplication with PET-MRI imaging pattern and alpha-synuclein CSF seeding

将SNCA三倍体表型与PET-MRI成像模式和α-突触核蛋白脑脊液播散联系起来

Wurster, Isabel; Quadalti, Corinne; Rossi, Marcello; Hauser, Ann-Kathrin; Deuschle, Christian; Schulte, Claudia; Waniek, Katharina; Lachmann, Ingolf; la Fougere, Christian; Doppler, Kathrin; Gasser, Thomas; Bender, Benjamin; Parchi, Piero; Brockmann, Kathrin

Genotype-Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

SCARB2相关临床表现的基因型-表型相关性:病例报告及深入文献综述

Atasu, Burcu; Acarlı, Ayse Nur Ozdag; Bilgic, Basar; Baykan, Betül; Demir, Erol; Ozluk, Yasemin; Turkmen, Aydin; Hauser, Ann-Kathrin; Guven, Gamze; Hanagasi, Hasmet; Gurvit, Hakan; Emre, Murat; Gasser, Thomas; Lohmann, Ebba

Association between CSF alpha-synuclein seeding activity and genetic status in Parkinson's disease and dementia with Lewy bodies

脑脊液α-突触核蛋白种子活性与帕金森病和路易体痴呆患者的基因状态之间的关联

Brockmann, Kathrin; Quadalti, Corinne; Lerche, Stefanie; Rossi, Marcello; Wurster, Isabel; Baiardi, Simone; Roeben, Benjamin; Mammana, Angela; Zimmermann, Milan; Hauser, Ann-Kathrin; Deuschle, Christian; Schulte, Claudia; Waniek, Katharina; Lachmann, Ingolf; Sjödin, Simon; Brinkmalm, Ann; Blennow, Kaj; Zetterberg, Henrik; Gasser, Thomas; Parchi, Piero