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Rebecca Schüle

university of tubingen
H指数:60
被引数:1.1万

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KCNA2 ‐Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment

<scp> <i>KCNA2</i> </scp> 相关遗传性痉挛性截瘫痷:临床特征及靶向治疗依据

2026-10-070
PRE
A Pharmacometrics-Informed Trial Simulation Framework for Optimizing Study Designs for Disease-Modifying Treatments in Rare Neurological Disorders

基于药代动力学信息指导的试验模拟框架,用于优化罕见神经系统疾病疾病修饰性治疗的研究设计

2025-08-050
OAAI
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
2024-06-240
OAAI
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
2024-06-071
PRE
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases

针对罕见神经系统疾病患者的最佳跨学科管理和医疗机构的建议

2024-02-132
OAAI
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

由于FICD的去ampylation功能丧失而导致的BiP失活导致运动神经元疾病

2022-12-018
OAAI