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

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency

一种靶向中枢神经系统的AAV9基因疗法可恢复GAMT缺陷模型中胍基乙酸甲基转移酶的表达和生化功能。

Binsfeld, Robyn; Webster, Troy; Tkachyova, Ilona; Tropak, Michael; Mitchell, Melissa; Peretti, Tesla; Schulze, Andreas; Walia, Jagdeep S

GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments

GAMT 缺乏症:临床表现、治疗、诊断、动物模型、临床前和临床进展

Biagiotti, Sara; Perla, Elena; Guzzo, Serafina Manila; Tolve, Manuela; Nardecchia, Francesca; Rossi, Luigia; Carducci, Claudia; Pascucci, Tiziana; Leuzzi, Vincenzo; Magnani, Mauro

Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts

AGAT和GAMT基因导入可提高肌酸转运蛋白缺乏症患者成纤维细胞中的肌酸水平

Chloe Wells ,Jon Sorgenfrei ,Sadie L Johnson ,Devin Albertson ,Jared Rutter ,Steven Andrew Baker

NRGAMTE: Neurophysiological Residual Gated Attention Multimodal Transformer Encoder for Sleep Disorder Detection

NRGAMTE:用于睡眠障碍检测的神经生理残差门控注意力多模态Transformer编码器

Subramaniam, Jayapoorani; Guruvaya, Aruna Mogarala; Vijaykumar, Anupama; Gowda, Puttamadappa Chaluve

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency

三名患有胍基乙酸甲基转移酶(GAMT)缺乏症的成年患者的治疗及预后改善

Lee, Angela; Weisenberg, Judith; Toolan, Elizabeth; Shinawi, Marwan

Myeloid cell-derived creatine in the hypoxic niche promotes glioblastoma growth

缺氧微环境中髓系细胞来源的肌酸促进胶质母细胞瘤生长

Aida Rashidi ,Leah K Billingham ,Andrew Zolp ,Tzu-Yi Chia ,Caylee Silvers ,Joshua L Katz ,Cheol H Park ,Suzi Delay ,Lauren Boland ,Yuheng Geng ,Steven M Markwell ,Crismita Dmello ,Victor A Arrieta ,Kaylee Zilinger ,Irene M Jacob ,Aurora Lopez-Rosas ,David Hou ,Brandyn Castro ,Alicia M Steffens ,Kathleen McCortney ,Jordain P Walshon ,Mariah S Flowers ,Hanchen Lin ,Hanxiang Wang ,Junfei Zhao ,Adam Sonabend ,Peng Zhang ,Atique U Ahmed ,Daniel J Brat ,Dieter H Heiland ,Catalina Lee-Chang ,Maciej S Lesniak ,Navdeep S Chandel ,Jason Miska

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

ClinGen变异注释专家组关于GAMT、GATM和SLC6A8变异分类在脑肌酸缺乏综合征中的应用建议

Goldstein, Jennifer; Thomas-Wilson, Amanda; Groopman, Emily; Aggarwal, Vimla; Bianconi, Simona; Fernandez, Raquel; Hart, Kim; Longo, Nicola; Liang, Nicole; Reich, Daniel; Wallis, Heidi; Weaver, Meredith; Young, Sarah; Mercimek-Andrews, Saadet

Long term follow-up in GAMT deficiency - Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data

GAMT 缺乏症的长期随访——治疗方案、生化指标和体内脑质子磁共振波谱数据的相关性

Marten, Lara M; Krätzner, Ralph; Salomons, Gajja S; Fernandez Ojeda, Matilde; Dechent, Peter; Gärtner, Jutta; Huppke, Peter; Dreha-Kulaczewski, Steffi

Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report

叙利亚儿童脑肌酸缺乏综合征与新型胍基乙酸甲基转移酶(GAMT)突变相关的病例报告

Alhomsi, Dima; Abdalsalam, Dania; Sulaiman, Rama; Bakleh, Sameer; Alasmar, Diana

GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management

儿童人群中GAMT缺乏症:临床和分子特征及治疗

Almaghrabi, Majdah A; Muthaffar, Osama Y; Alahmadi, Sereen A; Abdulsbhan, Mashael A; Bamusa, Mashael; Aljezani, Maram Ahmed; Bahowarth, Sarah Y; Alyazidi, Anas S; Aggad, Waheeb S