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

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

少突胶质细胞沉默元件是层粘蛋白B1结构变异致病作用的基础。

Nmezi, Bruce; Rodriguez Bey, Guillermo; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F; Sousa, Sérgio B; Palavra, Filipe; Toro, Camilo; Pinto E Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S; Park, Yungki; Bernard, Geneviève; Raininko, Raili; Zhou, Jian; Hainer, Sarah J; Padiath, Quasar S

Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy

LMNB1相关常染色体显性遗传性脑白质营养不良的诊断、治疗和监测临床实践指南

Dhamija, Radhika; Tobin, W Oliver; Cortelli, Pietro; Padiath, Quasar; Muthusamy, Karthik; Singh Sekhon, Ujjal Didar; Singh, Bishen Jeet; Harris, Dan; Billings, Heather; Mamillo, Keti; Appleberry, Holly; Giorgio, Elisa; Ratti, Stefano; Fogel, Brent L; Gavrilova, Ralitza; Raininko, Raili; Cousin, Margot A

Intravoxel incoherent motion imaging and dynamic susceptibility contrast perfusion MRI in differentiation between recurrent intracranial tumor and treatment-induced changes

体素内不相干运动成像和动态磁敏感对比灌注磁共振成像在鉴别颅内肿瘤复发和治疗引起的改变中的应用

Hellström, Jussi; Huq, Ishita; Witt Nyström, Petra; Blomquist, Erik; Libard, Sylwia; Raininko, Raili; Wikström, Johan

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

层粘蛋白B1上游的基因组缺失会导致非典型常染色体显性遗传性脑白质营养不良

Nmezi, Bruce; Giorgio, Elisa; Raininko, Raili; Lehman, Anna; Spielmann, Malte; Koenig, Mary Kay; Adejumo, Rahmat; Knight, Melissa; Gavrilova, Ralitza; Alturkustani, Murad; Sharma, Manas; Hammond, Robert; Gahl, William A; Toro, Camilo; Brusco, Alfredo; Padiath, Quasar S

Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy

LMNB1相关常染色体显性遗传性脑白质营养不良患者的脑葡萄糖代谢

Finnsson, Johannes; Lubberink, Mark; Savitcheva, Irina; Fällmar, David; Melberg, Atle; Kumlien, Eva; Raininko, Raili

Evaluation of the INTERPRET decision-support system: can it improve the diagnostic value of magnetic resonance spectroscopy of the brain?

INTERPRET决策支持系统的评估:它能否提高脑磁共振波谱的诊断价值?

Hellström, J; Romanos Zapata, R; Libard, S; Wikström, J; Ortiz-Nieto, F; Alafuzoff, I; Raininko, R

Extended Anatomical Grading in Diffuse Axonal Injury Using MRI: Hemorrhagic Lesions in the Substantia Nigra and Mesencephalic Tegmentum Indicate Poor Long-Term Outcome

利用磁共振成像对弥漫性轴索损伤进行扩展解剖分级:黑质和中脑被盖出血性病变预示着长期预后不良

Abu Hamdeh, Sami; Marklund, Niklas; Lannsjö, Marianne; Howells, Tim; Raininko, Raili; Wikström, Johan; Enblad, Per

LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course

LMNB1相关常染色体显性遗传性脑白质营养不良:临床和影像学过程

Finnsson, Johannes; Sundblom, Jimmy; Dahl, Niklas; Melberg, Atle; Raininko, Raili

Recurrence of Susac Syndrome following 23 Years of Remission

苏萨克综合征缓解23年后复发

Feresiadou, Amalia; Eriksson, Urban; Larsen, Hans-Christian; Raininko, Raili; Nygren, Ingela; Melberg, Atle

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

常染色体隐性遗传性脑瘫综合征中一种新的AP4M1突变以及AP-4缺陷的临床扩展

Jameel, Muhammad; Klar, Joakim; Tariq, Muhammad; Moawia, Abubakar; Altaf Malik, Naveed; Seema Waseem, Syeda; Abdullah, Uzma; Naeem Khan, Tahir; Raininko, Raili; Baig, Shahid Mahmood; Dahl, Niklas