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Agatha Schlüter

institució catalana de recerca i estudis avançats
H指数:38
被引数:1.1万

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

2026-04-030
PRE
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

核糖体蛋白RPS6KC1的双等位基因变异导致一种复杂的神经发育障碍

2025-10-220
PRE
Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
2024-10-160
OAAI
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia
2023-07-174
OAAI
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy

SLC35B2中的双等位基因变体引起了一种新的软骨发育不良,并伴有髓性脑白质营养不良

BRAIN
IF11.7
2022-03-244
OA
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
2022-03-0113
OAAI
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
2021-11-0138
OAAI
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

双等位基因PI4KA变体引起一种新的神经发育综合征,伴有低髓性脑白质营养不良

BRAIN
IF11.7
2021-08-2026
OAAI
X-linked recessive TLR7 deficiency in ∼1% of men under 60 years old with life-threatening COVID-19

X连锁隐性TLR7缺乏症在60岁以下男性 ~ 1% 与危及生命的新型冠状病毒肺炎

2021-08-10287
OAAI
DLG4-related synaptopathy: a new rare brain disorder

DLG4-related突触病: 一种新的罕见的脑部疾病

2021-05-0128
OAAI
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males
2021-03-0146
OAAI
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
2020-10-0523
OAAI
The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy

过氧化物酶体脂肪酸转运蛋白ABCD1/PMP-4在C中是必需的。秀丽隐杆线虫的皮下组织用于轴突维持: 肾上腺脑白质营养不良的蠕虫模型

2020-05-0118
OAAI
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science
IF45.8
2020-01-010
OAAI