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Keywords: Hereditary spastic paraplegia
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Journal Articles
Selin Gümüşderelioğlu, Lauren Resch, Trisha Brock, Undiagnosed Diseases Network, G. W. Gant Luxton, Heidi Cope, Queenie K.-G. Tan, Christopher Hopkins, Daniel A. Starr
Journal:
Disease Models & Mechanisms
Dis Model Mech (2023) 16 (8): dmm050076.
Published: 29 August 2023
...Selin Gümüşderelioğlu; Lauren Resch; Trisha Brock; Undiagnosed Diseases Network; G. W. Gant Luxton; Heidi Cope; Queenie K.-G. Tan; Christopher Hopkins; Daniel A. Starr ABSTRACT Hereditary spastic paraplegia (HSP) is a group of degenerative neurological disorders. We identified a variant in human...
Includes: Supplementary data
Journal Articles
In collection:
Neurodegenerative Disorders
Pingting Liu, Baichun Jiang, Jian Ma, Pengfei Lin, Yinshuai Zhang, Changshun Shao, Wenjie Sun, Yaoqin Gong
Journal:
Disease Models & Mechanisms
Dis Model Mech (2017) 10 (1): 53–62.
Published: 1 January 2017
... embryonic lethal, whereas heterozygous Slc33a1 mutant mice ( Slc33a1 wt/mut ) exhibited behavioral abnormalities and central neurodegeneration, which is consistent with hereditary spastic paraplegia (HSP) phenotypes. Importantly, we found an upregulation of BMP signaling in the nervous system and mouse...
Includes: Supplementary data
Journal Articles
Journal:
Disease Models & Mechanisms
Dis Model Mech (2014) 7 (8): 1005–1012.
Published: 1 August 2014
...Sally L. Baxter; Denise E. Allard; Christopher Crowl; Nina Tang Sherwood Autosomal-dominant hereditary spastic paraplegia (AD-HSP) is a crippling neurodegenerative disease for which effective treatment or cure remains unknown. Victims experience progressive mobility loss due to degeneration...