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M

Manoj P. Menezes

University of Sydney
H指数:32
被引数:3,569

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Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants
Brain
IF11.7
2025-06-090
PRE
Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate

自闭症倒退患者的脑脊液代谢组学研究发现鞘脂调节紊乱,且β-羟基丁酸盐水平降低。

2025-04-011
PRE
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Charcot-marie-tooth病儿童体重指数与疾病进展的关系

2023-08-150
OA
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
2023-08-0119
OAAI
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes

CSF新蝶呤和喹啉酸是火灾和其他感染触发的脑病综合征中神经炎症和神经毒性的生物标志物

2023-06-209
OA
CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation

脑脊液新蝶呤、喹啉酸和犬尿氨酸/色氨酸比值是活动性神经炎症的生物标志物

2023-05-0119
OAAI
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids

癫痫痉挛中脑脊液kynuenic酸减少: 对皮质类固醇反应的生物标志物

2022-10-019
OAAI
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

儿科charcot-marie-tooth病管理的临床实践指南

2022-02-0916
PRE
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

使用临床可获得的标本进行RNA诊断的标准化实践重新分类了推定的剪接变体的75%

2022-01-0157
PRE
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease
2021-10-262
OA