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Georgios Koutsis

national & kapodistrian university of athens
H指数:25
被引数:3,127

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Partial Loss of FITM2 Function Causes Hereditary Spastic Paraplegia

<i>FITM2</i>功能部分缺失导致遗传性痉挛性截瘫

2026-10-230
OA
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
Niemann Pick Type C Presenting as Familial Late-Onset Richardson Syndrome. A Case Series of Four Siblings

尼曼-皮克C型病表现为家族性晚发型理查森综合征。四例同胞病例报告

2026-04-010
PRE
The economic impact, healthcare resource utilization, and clinical outcome over 24 months in patients with relapsing-remitting multiple sclerosis treated with dimethyl fumarate in Greece- The Fidelity Study

希腊24个月内复发缓解型多发性硬化患者接受二甲基 fumaroate 治疗的经济影响、医疗资源利用和临床结局——Fidelity 研究

2025-12-010
PRE
Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort

揭示希腊ALS的遗传景观:在一个353例患者的队列中鉴定已知和新型致病变异

2025-11-060
PRE
Huntington's Disease-like Syndrome as a Rare Presentation of CACNA1A-Related Disorder

亨廷顿病样综合征作为CACNA1A相关疾病的罕见表现形式

2025-11-010
OAAI
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

希腊遗传性痉挛性截瘫的遗传景观

2025-11-010
OAAI
Genetic Prοpensity for Different Aspects of Dementia Pathology and Cognitive Decline in a Community Elderly Population

不同痴呆病理学和认知衰退方面的遗传易感性及社区老年人群研究

2025-01-220
OA
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms
2024-12-010
PRE
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
2024-06-010
OAAI
Cerebral Amyloidosis in Individuals with Subjective Cognitive Decline: From Genetic Predisposition to Actual Cerebrospinal Fluid Measurements
2024-05-100
OAAI
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
2023-08-082
OA
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete
2022-10-014
OAAI