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

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.

REEP1 积累破坏内质网完整性,导致远端遗传性运动神经病脊髓运动神经元退化。

Bock Andrea, Schurig Mona, Willoughby Miles, Mirecki Andrea, Seemann Eric, Lohachova Kateryna, Katona Istvan, Mittag Sonnhild, Liebmann Lutz, Franzka Patricia, Heidari Horestani Mehdi, Khundadze Mukhran, Mosler Thorsten, Louie Timothy, de Visser Marianne, Weterman Marian A J, Kiehntopf Michael, Beetz Christian, Nietzsche Sandor, Huber Otmar, Weis Joachim, Kessels Michael M, Bhaskara Ramachandra M, Qualmann Britta, Đikić Ivan, Hübner Christian A

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

致病性或可能致病性的GRN变异体在0.1%的帕金森病患者中被发现。

Ganoza, Christian A; Westenberger, Ana; Paul, Jefri J; Curado, Filipa; Rennecke, Jörg; Mannepalli, Sumanth; Zonic, Emir; Saravanakumar, Deepa; Paknia, Omid; Al-Ali, Ruslan; Laabs, Björn-Hergen; Csoti, Ilona; Valzania, Franco; Vandenberghe, Wim; Reetz, Katrin; Afshari, Mitra; Hassin-Baer, Sharon; Fonoff, Erich Talamoni; Gruber, Doreen; de Rosa, Anna; Musacchio, Thomas; de Carvalho Aguiar, Patricia; Negrotti, Anna; Tumas, Vitor; Gomez-Esteban, Juan Carlos; Gurevich, Tanya; Pavese, Nicola; Kulisevsky, Jaime; Sammler, Esther; Klein, Christine; Bauer, Peter; Beetz, Christian

Genotypes truncating the intracellular tail of human pre-TCRα: From amorphic to isomorphic

人类前TCRα胞内尾部截断的基因型:从无定形到同构

Materna, Marie; Beetz, Christian; Ganoza, Christian A; Deswarte, Caroline; Estrela, Lucien Pereira; Parvaneh, Nima; Casanova, Jean-Laurent; Béziat, Vivien

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis

GBA1 p.E427K (p.E388K) 变异是突触核蛋白病的一个风险因素:一项荟萃分析

Chifamba, Leah V; Parlar, Sitki Cem; Somerville, Emma N; Liu, Lang; Yu, Eric; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Ruskey, Jennifer A; Waters, Cheryl; Monchi, Oury; Dauvilliers, Yves; Dupré, Nicolas; Timofeeva, Alla; Emelyanov, Anton; Pchelina, Sofya; Miliukhina, Irina; Greenbaum, Lior; Hassin-Baer, Sharon; Goldstein, Orly; Radefeldt, Mandy; Bauer, Peter; Beetz, Christian; Dilliott, Allison A; Beck, James C; Senkevich, Konstantin; Klein, Christine; Alcalay, Roy N; Gan-Or, Ziv

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

一种进行性RBL2相关神经发育障碍的临床和遗传特征

Aughey, Gabriel N; Cali, Elisa; Maroofian, Reza; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; McFarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Shervin Badv, Reza; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate E; Kershaw, Christopher J; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry

The LRRK2 p.L1795F variant causes Parkinson's disease in the European population

LRRK2 p.L1795F 变异导致欧洲人群患帕金森病。

Lange, Lara M; Levine, Kristin; Fox, Susan H; Marras, Connie; Ahmed, Nazish; Kuznetsov, Nicole; Vitale, Dan; Iwaki, Hirotaka; Lohmann, Katja; Marsili, Luca; Espay, Alberto J; Bauer, Peter; Beetz, Christian; Martin, Jessica; Factor, Stewart A; Higginbotham, Lenora A; Chen, Honglei; Leonard, Hampton; Nalls, Mike A; Mencacci, Niccolo E; Morris, Huw R; Singleton, Andrew B; Klein, Christine; Blauwendraat, Cornelis; Fang, Zih-Hua

Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis

血浆葡萄糖基神经酰胺水平受ATP10D调控,且不参与帕金森病的发病机制。

Somerville, Emma N; James, Alva; Beetz, Christian; Schwieger, Robert; Barrel, Gal; Kandaswamy, Krishna K; Iurascu, Marius I; Bauer, Peter; Ta, Michael; Iwaki, Hirotaka; Senkevich, Konstantin; Yu, Eric; Alcalay, Roy N; Gan-Or, Ziv

Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease

RAB32相关帕金森病的遗传学和流行病学见解

Radefeldt, Mandy; Lemke, Sabrina; Chaichoompu, Kridsadakorn; Paul, Jefri Jeya; Curado, Filipa; Valzania, Franco; Cavallieri, Francesco; Fioravanti, Valentina; Valente, Enza Maria; Avenali, Micol; Negrotti, Anna; Hanagasi, Hasmet A; Thonke, Sven; Matarazzo, Michele; Panzavolta, Andrea; Cerami, Chiara; Westenberger, Ana; Klein, Christine; Bauer, Peter; Beetz, Christian

RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria

RAB32相关帕金森病:深度表型分析、MDSGene文献综述及SynNeurGe标准的应用

Kleinz, Teresa; Cavallieri, Francesco; Borsche, Max; Toschi, Giulia; Valzania, Franco; Fioravanti, Valentina; Valente, Enza Maria; Mitrotti, Pierfrancesco; Avenali, Micol; Zittel, Simone; Born, Rommi; Matarazzo, Michele; Di Fonzo, Alessio; Monfrini, Edoardo; Radefeldt, Mandy; Santinelli, Letizia; Griebner, Norman; Shambetova, Cholpon; Brand, Max; Gabbert, Carolin; Blauwendraat, Cornelis; Trinh, Joanne; Lohmann, Katja; Beetz, Christian; Bauer, Peter; Brüggemann, Norbert; Klein, Christine

PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease.

PPM1M 是一种 LRRK2 拮抗剂,优先结合磷酸化 Rab12 的磷酸酶,可能与帕金森病有关。

Chiang Claire Y, Pratuseviciute Neringa, Lin Yu-En, Adhikari Ayan, Yeshaw Wondwossen M, Flitton Chloe, Sherpa Pemba L, Tonelli Francesca, Rektorova Irena, Lynch Timothy, Siuda Joanna, Rudzińska-Bar Monika, Pulyk Oleksandr, Bauer Peter, Beetz Christian, Dickson Dennis W, Ross Owen A, Wszolek Zbigniew K, Fang Zih-Hua, Klein Christine, Zimprich Alexander, Alessi Dario R, Sammler Esther M, Pfeffer Suzanne R