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Lior Greenbaum

sheba medical center
H指数:30
被引数:3,158

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A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel

克雅病无症状亲属遗传检测的实践框架:以色列的经验与见解

2026-06-230
OAAI
Rare-Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

溶酶体基因的罕见变异负担表明唾液酸化和神经节苷脂代谢在帕金森病中的作用

2026-06-100
OAAI
Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

在两名女性中检测到的杂合复发性MAX基因p.(Arg60Gln)变异,证实并扩展了多指症-巨头综合征的表型谱。

2025-11-070
OAAI
LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain

LRRK2罕见变异各结构域遗传负担在帕金森病中的关联:局限于激酶结构域

2025-04-290
OA
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
2025-03-180
OAAI
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics

以色列遗传性甲状腺素转运蛋白淀粉样变性:遗传景观与临床特征

2025-01-290
OA
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons (vol 19, 88, 2024)
2024-12-180
OAAI
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons

帕金森氏病风险基因组织蛋白酶B促进多巴胺能神经元中纤维状 α-突触核蛋白清除,溶酶体功能和葡糖脑苷脂酶活性

2024-11-251
PRE
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
2024-10-010
OAAI
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting
2024-08-010
PRE