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Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

机译：遗传性痉挛性截瘫和智力障碍：来自家庭的临床生成课程，表明双重遗传诊断

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Sergio Aguilera-Albesa; Ana Belén de la Hoz; Nekane Ibarluzea; Andrés R. Ordóñez-Castillo; Olivia Busto-Crespo; Olatz Villate; María Asunción Ibiricu-Yanguas; María E. Yoldi-Petri; Iñaki García de Gurtubay; Guiomar Perez de Nanclares; Arrate Pereda; María Isabel Tejada;
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1. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis [J] . Sergio Aguilera-Albesa, Ana Belén de la Hoz, Nekane Ibarluzea, Frontiers in Neurology . 2020,第4期

机译：遗传性痉挛性截瘫和智力障碍：来自家庭的临床生成课程，表明双重遗传诊断
2. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients [J] . Schuele Rebecca, Wiethoff Sarah, Martus Peter, Annals of neurology . 2016,第4期

机译：遗传性痉挛性截瘫：608例患者的临床遗传学教训
3. Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia [J] . Bernadette Bellette, Ratneswary Sutharsan, Alan Mackay-Sim, Biology Open . 2014,第6期

机译：低剂量微管蛋白结合药物可挽救遗传性痉挛性截瘫患者源性干细胞的过氧化物酶转运不足低剂量微管蛋白结合药物可挽救遗传性痉挛性截瘫患者源性干细胞的过氧化物酶转运缺陷遗传性痉挛性截瘫患者源性干细胞中的表达
4. Analysis of Test-Retest Repeatability of Gait Analysis Parameters in Hereditary Spastic Paraplegia [C] . Armando Coccia, Federica Amitrano, Pietro Balbi, IEEE International Symposium on Medical Measurements and Applications . 2021

机译：遗传痉挛性截瘫术中的步态分析参数的试验 - 重复性分析
5. Development and Manipulation of a Drosophila Model for Toxic Effects of Mutated M1 Spastin in Hereditary Spastic Paraplegia Treatment [D] . Yiantsos, Ioanna. 2019

机译：果蝇突变M1 Spastin在遗传性痉挛性截瘫治疗中毒性作用的果蝇模型的开发和操纵。
6. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis [O] . Sergio Aguilera-Albesa, Ana Belén de la Hoz, Nekane Ibarluzea, 2020

机译：遗传性痉挛性截瘫和智障：来自家庭的临床遗传学经验提示双重遗传学诊断
7. Truncating mutation in intracellular phospholipase A gene () in hereditary spastic paraplegia with intellectual disability (SPG54) [O] . 2015

机译：具有智力障碍的遗传性痉挛性截瘫的细胞内磷脂酶A基因的截短突变（SPG54）

Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

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