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

White Matter Hyperintensities on Brain MRI are Related to Brain Atrophy and Accelerated Brain Age

脑部MRI显示的白质高信号与脑萎缩和脑老化加速有关

Guo, J Y; Isohanni, M; Miettunen, J; Jääskeläinen, E; Kiviniemi, V; Nikkinen, J; Remes, J; Huhtaniska, S; Veijola, J; Jones, P B; Murray, G K; Meysami, Somayeh; Raji, Cyrus A; Lee, Soojin; Garg, Saurabh; Akbari, Nasrin; Pompa, Rodrigo Solis; Gouda, Ahmed; Nguyen, Thanh Duc; Basar, Saqib; Chodakiewitz, Yosef Gavriel; Merrill, David A; Patel, Amar; Durand, Daniel J; Hashemi, Sam; Meysami, Somayeh; Raji, Cyrus A; Lee, Soojin; Garg, Saurabh; Akbari, Nasrin; Pompa, Rodrigo Solis; Gouda, Ahmed; Nguyen, Thanh Duc; Basar, Saqib; Chodakiewitz, Yosef Gavriel; Merrill, David A; Patel, Amar; Durand, Daniel J; Hashemi, Sam

Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy

光学基因组图谱分析发现,杜氏肌营养不良症患者体内存在破坏DMD基因的平衡倒位。

Turtinen, Tuuni; Isohanni, Pirjo; Anttonen, Anna-Kaisa; Huhti, Leena; Pylkäs, Katri; Tikkanen, Marketta; Hakonen, Anna H; Strang-Karlsson, Sonja; Mantere, Tuomo

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

Airborne SARS-CoV2 virus exposure, interpersonal distance, face mask and perceived risk of infection

空气传播的SARS-CoV-2病毒暴露、人际距离、口罩佩戴和感知感染风险

Svenson, Ola; Isohanni, Freja; Salo, Ilkka; Lindholm, Torun

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity

DOK7基因中c.1508dupC创始变异的纯合性会导致先天性重症肌无力,且严重程度不一。

Palmio, Johanna; Kiviranta, Panu; Hartikainen, Päivi H; Isohanni, Pirjo; Auranen, Mari; Videman, Karoliina; Penttilä, Sini; Lehtinen, Sara; Kirjavainen, Jarkko; Hintikka, Susanna; Paloviita, Katriina; Saarela, Janna; Udd, Bjarne

Without ENMG, detecting pediatric vincristine neuropathy is a challenge

如果没有肌电图检查,检测儿童长春新碱神经病变将是一项挑战。

Viinikainen, Kreeta; Isohanni, Pirjo; Kanerva, Jukka; Lönnqvist, Tuula; Lauronen, Leena

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27双等位基因变异会导致不同程度的脑桥-小脑-晶状体变性,并伴有运动障碍。

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayça Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskär, Katarina; Al Aqeel, Aida I; High, Frances A; Armstrong-Javors, Amy E; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A; Ghavideldarestani, Maryam; Kamel, Walaa A; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J; Alkuraya, Fowzan Sami; Lupski, James R; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

儿童人群中单发大片段线粒体DNA缺失疾病的表型谱和临床病程:一项多中心研究

Björkman, Kristoffer; Vissing, John; Østergaard, Elsebet; Bindoff, Laurence A; de Coo, Irenaeus F M; Engvall, Martin; Hikmat, Omar; Isohanni, Pirjo; Kollberg, Gittan; Lindberg, Christopher; Majamaa, Kari; Naess, Karin; Uusimaa, Johanna; Tulinius, Mar; Darin, Niklas

m-RESIST, a Mobile Therapeutic Intervention for Treatment-Resistant Schizophrenia: Feasibility, Acceptability, and Usability Study

m-RESIST:一种用于治疗难治性精神分裂症的移动治疗干预手段:可行性、可接受性和可用性研究

Grasa, Eva; Seppälä, Jussi; Alonso-Solis, Anna; Haapea, Marianne; Isohanni, Matti; Miettunen, Jouko; Caro Mendivelso, Johanna; Almazan, Cari; Rubinstein, Katya; Caspi, Asaf; Unoka, Zsolt; Farkas, Kinga; Usall, Judith; Ochoa, Susana; van der Graaf, Shenja; Jewell, Charlotte; Triantafillou, Anna; Stevens, Matthias; Reixach, Elisenda; Berdun, Jesus; Corripio, Iluminada

Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light

罕见的PMP22变异体与轻度至重度神经病变相关,且与血浆GDF15或神经丝轻链无关。

Palu, Edouard; Järvilehto, Julius; Pennonen, Jana; Huber, Nadine; Herukka, Sanna-Kaisa; Haapasalo, Annakaisa; Isohanni, Pirjo; Tyynismaa, Henna; Auranen, Mari; Ylikallio, Emil