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J

Julian E. Alecu

boston children's hospital and harvard medical school
H指数:10
被引数:306

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Genotype–structure–phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4

基因型-结构-表型相关性定义早发型痉挛性截瘫4型的不同自然史

Brain
IF11.7
2026-05-050
PRE
The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients

ATP1A3相关疾病的运动障碍谱:横断面分析及88例患者的视频档案

2026-03-180
PRE
Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)

血浆神经丝轻链在遗传性痉挛性截瘫痬11型(HSP-SPG11)和15型(HSP-ZFYVE26)中的纵向动力学

2025-12-010
PRE
Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases

早期发病遗传性痉挛性截瘫痷的运动障碍谱:一项428例病例研究

2025-12-010
PRE
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients
Brain
IF11.7
2025-08-140
PRE
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia
2024-01-175
OAAI
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
2021-09-2511
OAAI