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

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际注册研究:临床、遗传和影像学视角

Nou-Fontanet, Laia; Ravelli, Claudia; Burglen, Lydie; Balsells Mejia, Sol; Valls-Villalba, Angel; Schiffels, Elies Roman; Innocenti, Alice; Villafuerte, Beatriz; Salazar-Villacorta, Ainara; Quiroz, Vicente; Sariego Jamardo, Andrea; Bonato, Giulia; Díaz-Gomez, Asun; Afenjar, Alexandra; Vilain, Catheline; da Silva Möller, Patricia Dumke; Garcia-Navas Nuñez, Deyanira; Krygier, Magdalena; Molnar, Maria Judit; Milanowski, Łukasz; Õunap, Katrin; Pauni, Micaela; Vega, Patricia; Borie, Raphael; Villamil-Osorio, Milena; Yilmaz, Sanem; Zádori, Dénes; Zawadzka, Marta; Barakat, Tahsin Stefan; Neuens, Sebastian; de Natera-de Benito, Daniel; Casas-Alba, Dídac; Soliani, Luca; de Gusmao, Claudio M; Garone, Giacomo; Specchio, Nicola; Carecchio, Miryam; Moreno, José C; Magrinelli, Francesca; Bhatia, Kailash P; Ebrahimi-Fakhari, Darius; Castiglioni, Claudia; Kurian, Manju Ann; Carvalho, João Nuno; Pons, Roser; Roze, Emmanuel; Doummar, Diane; Ortigoza-Escobar, Juan Darío

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia

罕见儿童期发病遗传性痉挛性截瘫患者的健康相关生活质量

Schmidt, Henri J D; Battaglia, Nicole; Rong, Joshua; Tam, Amy; Carty, Siofra; Quiroz, Vicente; Yang, Kathryn; Zaman, Zainab; Schierbaum, Luca; Bernardi, Katerina; Alecu, Julian E; Ebrahimi-Fakhari, Darius

Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia

ATG9A 比值在 AP-4 相关遗传性痉挛性截瘫诊断中的应用价值

Agianda, Habibah A P; Kim, Hyo-Min; Battaglia, Nicole; Rong, Joshua; Tam, Amy; Gonzalez Saez-Diez, Enrique; Boerkoel, Cornelius F; Saffari, Afshin; Quiroz, Vicente; Schierbaum, Luca; Zaman, Zainab; Bernardi, Katerina; Ebrahimi-Fakhari, Darius

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations

基于横断面数据的HPDL相关疾病的定量自然史模型揭示了基因型-表型相关性

Alecu, Julian E; Tam, Amy; Richter, Silja; Quiroz, Vicente; Schierbaum, Luca; Saffari, Afshin; Ebrahimi-Fakhari, Darius

LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons.

LXR激动剂可挽救SPG3A患者特异性iPSC衍生神经元的突触功能障碍和退化。

Thakur Gitika, Dhanukate Rutuja, Mou Yongchao, Kunhiraman Priya, Khadilkar Archana, Srivastava Siddharth, Alecu Julian E, Ebrahimi-Fakhari Darius, Chen Zhenyu, Blackstone Craig, Li Xue-Jun

Catastrophic Cerebral Infarctions in a Pediatric Patient with Acute Lymphoblastic Leukemia Due to Mucorales Infection

毛霉菌感染导致急性淋巴细胞白血病患儿发生灾难性脑梗死

Aldejohann, Alexander M; Uribe Munoz, Antonio; Füller, Miriam A; Walther, Grit; Kurzai, Oliver; Schaumburg, Frieder; Sträter, Ronald; Potratz, Jenny; Sandkötter, Julia; Ebrahimi-Fakhari, Daniel; Stracke, Christian P; Beck, Laura; Thomas, Christian; Groll, Andreas H

Correction: Aldejohann et al. Catastrophic Cerebral Infarctions in a Pediatric Patient with Acute Lymphoblastic Leukemia Due to Mucorales Infection. J. Fungi 2025, 11, 618

更正:Aldejohann 等人,《毛霉菌感染引起的急性淋巴细胞白血病患儿发生灾难性脑梗死》,《真菌学杂志》2025, 11, 618

Aldejohann, Alexander M; Uribe Munoz, Antonio; Füller, Miriam A; Walther, Grit; Kurzai, Oliver; Schaumburg, Frieder; Sträter, Ronald; Potratz, Jenny; Sandkötter, Julia; Ebrahimi-Fakhari, Daniel; Stracke, Christian P; Beck, Laura; Thomas, Christian; Groll, Andreas H

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

HPDL变异类型与临床疾病的发病和严重程度相关

Lee, Eun Hye; Kim-Mcmanus, Olivia; Yang, Jennifer H; Haas, Richard; Zaki, Maha S; Abdel-Salam, Ghada M H; Nakamura, Yuji; Abdel-Hamind, Mohamed S; Ebrahimi-Fakhari, Darius; Alecu, Julian E; Brunetti-Pierri, Nicola; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Gross, Stephanie; Alanay, Yasemin; Najarzadeh Totbati, Paria; Yadavilli, Manya; Friedman, Liana; Ojeda, Naomi Meave; Gleeson, Joseph G

The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia

痉挛性截瘫卓越研究中心网络(SP-CERN):遗传性痉挛性截瘫临床试验准备情况

Schierbaum, Luca; Quiroz, Vicente; Yang, Kathryn; Rong, Joshua; Battaglia, Nicole; Zubair, Umar; Christie, Michelle; Davis, Marie; Calame, Daniel; Danzi, Matt C; Finkel, Richard S; Burns, Joshua; Gilbert, Donald L; Mingbunjerdsuk, Dararat; Pruitt, Greg; Pruitt, Norma; Cobb, John; Sadjadi, Reza; Cashman, Christopher R; Blackstone, Craig; Fink, John K; Shy, Michael E; Zuchner, Stephan; Ebrahimi-Fakhari, Darius