日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Intracerebroventricular SPAST-AAV9 gene therapy prevents manifestation of symptoms in a mouse model of SPG4 hereditary spastic paraplegia.

脑室内 SPAST-AAV9 基因治疗可预防 SPG4 遗传性痉挛性截瘫小鼠模型出现症状。

Piermarini Emanuela, Guha Shrobona, Qiang Liang, Gray-Edwards Heather, Sena-Esteves Miguel, Baas Peter W

The Cullin3-Ring E3 ubiquitin ligase complex and USP14 regulate spastin-mediated microtubule severing and promotion of neurite outgrowth

Cullin3-Ring E3泛素连接酶复合物和USP14调节spastin介导的微管切割和促进神经突生长

Zhenbin Cai,Hui Wu,Tao Jiang,Ao Ma,Zhichao Meng,Jiehao Zhu,Hongsheng Lin,Yaozhong Liang,Guowei Zhang,Minghui Tan

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

扩大遗传性痉挛性截瘫的范围:脑瘫模拟中的双等位基因 SPAST 变异。

Nolasco Gregorio A, Roldán Mònica, Jamshidi Yalda, Georvasilis Ioannis, Rodríguez Rocío Jadraque, Boostani Reza, Shoeibi Ali, Armengol Lluís, Codina Anna, Karimiani Ehsan Ghayoor, Hernando-Davalillo Cristina, Martorell Loreto, Ramírez Almaraz María Luisa, Muchart Jordi, Ortez Carlos, Nascimento Andrés, Urreizti Roser, Natera-de Benito Daniel, Serrano Mercedes

Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report

SPAST基因致病变异导致的痉挛性四肢瘫痪:首例报告

Kostopoulou, Eirini; Lagadinou, Maria; Karatza, Ageliki; Sinopidis, Xenophon; Khang, Rin; Dimitriou, Gabriel

Fampridine in Hereditary Spastic Paraplegia Type 4 With SPAST Variant c.683-2A>C: A Case Report

氨吡啶治疗伴有 SPAST 变异 c.683-2A>C 的遗传性痉挛性截瘫 4 型:病例报告

Finsterer, Josef

Targeting MDM2 affects spastin protein levels and functions: implications for HSP treatment

靶向 MDM2 影响 spastin 蛋白水平和功能:对 HSP 治疗的意义

Francesca Sardina, Federica Polverino, Sonia Valentini, Claudia Carsetti, Elisabetta Falvo, Giada Tisci, Silvia Soddu, Fabiola Moretti, Alessandro Paiardini, Cinzia Rinaldo

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

从痉挛性截瘫到婴儿神经退行性疾病:扩展与双等位基因 SPAST 变异相关的表型谱

Degoutin, Manon; Angelini, Chloé; Bar, Claire; El Khedoud, Wahiba Amer; Barnerias, Christine; Boulariah-Hadjou, Razika; Estiar, Mehrdad A; Ewenczyk, Claire; Gan-Or, Ziv; Lacombe, Didier; Lefeuvre, Claire; Majethia, Purvi; Messaoud-Khelifi, Mouna; Narayanan, Dhanya Lakshmi; Rouleau, Guy A; Suchowersky, Oksana; Shukla, Anju; Guillaud-Bataille, Marine; Stevanin, Giovanni; Goizet, Cyril

Ziclague(®) (Alpinia Zerumbet oil) in patients with hereditary spastic paraplegia - the randomized controlled ZISPAST trial

Ziclague®(姜黄油)治疗遗传性痉挛性截瘫患者的随机对照 ZISPAST 试验

de Lima, Fabricio Diniz; Servelhere, Katiane Raisa; Bittar, Maria Fernanda Ribeiro; González-Salazar, Carelis; Martinez, Alberto Rolim Muro; Benaglia, Tatiana; de Sá Carvalho, Benilton; Pedroso, José Luiz; Graziani Povoas Barsottini, Orlando; Nucci, Anamarli; França, Marcondes Cavalcante

A Novel Frameshift Variant in the SPAST Gene Causing Hereditary Spastic Paraplegia in a Bulgarian-Turkish Family

保加利亚-土耳其家族中SPAST基因的一种新型移码变异导致遗传性痉挛性截瘫

Levkova, Mariya; Tsalta-Mladenov, Mihael; Kaprelyan, Ara

Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study

扩展SPG4的表型谱:早发性和复杂性SPAST-HSP中的自闭症谱系障碍及病例研究

Quaranta, Carlo Alberto; Gardani, Alice; Andorno, Giulia; Pichiecchio, Anna; Gana, Simone; Borgatti, Renato; Orcesi, Simona