Disease: Spastic paraplegia 6- autosomal dominant
- A clinical and genetic study of SPG31 in Japan
- A Two-Stage Culture Strategy for <em>Scenedesmus</em> sp. FSP3 for CO<sub>2</sub> Fixation and the Simultaneous Production of Lutein under Light and Salt Stress
- Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations
- Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia
- Clinical and Genetic Features of Chinese Patients With <em>NIPA1</em>-Related Hereditary Spastic Paraplegia Type 6
- Design and Synthesis of Fsp3-Enriched Spirocyclic-Based Biological Screening Compound Arrays via DOS Strategies and Their NNMT Inhibition Profiling
- Endovascular aneurysm repair for aorto-iliac artery pathologies in patients with autosomal dominant polycystic kidney disease
- Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
- Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
- Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1
- Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
- Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis
- Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review
- Novel Frameshift Heterozygous Mutation in <em>UBAP1</em> Gene Causing Spastic Paraplegia-80: Case Report With Literature Review
- Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PET
- SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
- The emerging genetic diversity of hereditary spastic paraplegia in Korean patients