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

Viral infection and brain inflammation with seizures in PARK7 deficiency.

PARK7 缺乏症可导致病毒感染和脑部炎症,并伴有癫痫发作。

Lønskov Jonas, Sünderhauf Annika, Andersen Sisse, Jeppesen Caroline Bækmann, Winzig Franziska, Hinke Daniëla Maria, Heinz Johanna L, Thomsen Kenneth, Thorup Mette B, Zillinger Thomas, Bundgaard Bettina, De Keukeleere Kerstin, Jørgensen Sofie Eg, Ek Jakob, Østergaard Elsebet, Christensen Jakob, Handrup Mette Møller, van der Sluis Renee M, Mogensen Trine H

A diagnostic algorithm for inherited metabolic disorders using untargeted metabolomics

利用非靶向代谢组学诊断遗传性代谢疾病的算法

Gao, Qian; Khan, Adnan; Christensen, Mette; Zhou, Xiaomin; Lund, Allan; Grønborg, Sabine Weller; Wibrand, Flemming; Østergaard, Elsebet; Moritz, Thomas

A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental Disorder

一种与罕见的UPF1相关神经发育障碍相关的新型UPF1变异

Tümer, Zeynep; Dalsberg, Jonas; Rønde, Gitte; Sørensen, Jesper Kiehn; Østergaard, Elsebet

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

鉴定出一种新的COQ4剪接变异体,该变异体可导致严重的原发性辅酶Q缺乏症。

Alcázar-Fabra, María; Østergaard, Elsebet; Fernández-Ayala, Daniel J M; Desbats, María Andrea; Morbidoni, Valeria; Tomás-Gallado, Laura; García-Corzo, Laura; Blanquer-Roselló, María Del Mar; Bartlett, Abigail K; Sánchez-Cuesta, Ana; Sena, Lucía; Cortés-Rodríguez, Ana; Cascajo-Almenara, María Victoria; Pagliarini, David J; Trevisson, Eva; Gronborg, Sabine W; Brea-Calvo, Gloria

HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis

HSP60分子伴侣缺乏会破坏线粒体基质蛋白质组并导致胆固醇合成失调。

Cagla Cömert ,Kasper Kjær-Sørensen ,Jakob Hansen ,Jasper Carlsen ,Jesper Just ,Brandon F Meaney ,Elsebet Østergaard ,Yonglun Luo ,Claus Oxvig ,Lisbeth Schmidt-Laursen ,Johan Palmfeldt ,Paula Fernandez-Guerra ,Peter Bross

Specific intervention program for ARFID comorbid with ASD in a Children’s Youth Autism Day Hospital

儿童青少年自闭症日间医院针对合并自闭症谱系障碍的回避/限制性食物摄入障碍(ARFID)的特定干预项目

Barington, Maria; Risom, Lotte; Ek, Jakob; Uldall, Peter; Ostergaard, Elsebet; Alvarez, A; Santamaria, N; Bote, V; Medina, R; Sanchez, B; Mendez, I; Monreal, J A; Hervas, A

Status epilepticus in POLG disease: a large multinational study

POLG 病中的癫痫持续状态:一项大型多国研究

Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, Irenaeus; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Majamaa, Kari; Kärppä, Mikko; Ortigoza-Escobar, Juan Dario; Tangeraas, Trine; Berland, Siren; Harrison, Emma; Biggs, Heather; Horvath, Rita; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A

mTORC1 hampers Hedgehog signaling in Tsc2 deficient cells

mTORC1 阻碍 Tsc2 缺陷细胞中的 Hedgehog 信号传导

Lasse Jonsgaard Larsen, Elsebet Østergaard, Lisbeth Birk Møller

Prenatal dispositions and genetic analysis of monozygotic female twins with suprasellar cysts and hydrocephalus: A case report

单卵双生女婴患有鞍上囊肿和脑积水的产前倾向和遗传分析:病例报告

Guldberg, Frederikke; Larsen, Carl Christian; Østergaard, Elsebet; Carlsen, Jonathan; Juhler, Marianne; Munch, Tina Nørgaard

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

线粒体苏氨酰tRNA合成酶(TARS2)相关疾病的临床、神经放射学和分子特征

Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S; Al-Maawali, Almundher; Srinivasan, Varunvenkat M; Al-Thihli, Khalid; Schaefer, G Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B; Basinger, Alice A; Pedersen, Signe Vandal; Pearson, Toni S; Grange, Dorothy K; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet; Prada, Carlos E; Ghezzi, Daniele; Gowda, Vykuntaraju K; Taylor, Robert W; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K; Maroofian, Reza