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J

Jennifer Faber

german center for neurodegenerative diseases
H指数:27
被引数:2,257

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Single-nucleotide polymorphism–directed design of allele-specific antisense oligonucleotides for spinocerebellar ataxia type 3

单核苷酸多态性指导下的脊髓小脑共济失调3型等位基因特异性反义寡核苷酸设计

2026-10-210
PRE
Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

SCA27B型共济失调的纵向进展、指标、年龄依赖性及严重程度修饰因子:一项219例患者的多中心研究

2026-08-010
PRE
A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX.

弗里德赖希共济失调症中患者报告的沟通困难测量方法:COMATAX。

2026-05-230
OAAI
Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study

患者报告的、心理社会和卫生经济学结局:轻度至中度Friedreich's ataxia的PROFA研究基线结果

2025-12-110
OAAI
Quantitative susceptibility mapping at 7T as a biomarker of post- and interictal extravascular iron in patients with focal epilepsy

7T定量磁化率成像作为局灶性癫痫患者发作间期和发作后血管外铁的生物学标志物

2025-11-270
OAAI
Predictive models for ataxia progression and conversion in spinocerebellar ataxia type 1 and 3

预测脊髓小脑共济失调1型和3型中进展和转化的模型

Brain
IF11.7
2025-10-280
PRE
The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort

脊髓小脑共济失调3型突变携带者在ESMI队列中的用药模式

2025-10-170
OA
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort

散发性成人起病性退行性共济失调的遗传景观:一项对377例SPORTAX队列纵向多中心研究连续患者的多模式遗传学研究

2025-05-010
PRE
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3
2024-12-120
OAAI
Sensitivity of Advanced Magnetic Resonance Imaging to Progression over Six Months in Early Spinocerebellar Ataxia

早期脊髓小脑性共济失调的高级磁共振成像对六个月以上进展的敏感性

2024-07-260
OA
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease
2024-04-010
OAAI
Early Neuroaxonal Damage in Neurologic Disorders Associated With GAD65 Antibodies
2024-01-012
OAAI
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3

脊髓小脑性共济失调3型的阶段依赖性生物标志物变化

2023-12-058
OAAI