Pedigrees, sequencing chromatograms of disease-causing gene related to HSP families in our cohort. Figure S1. Pedigree, sequencing chromatograms of SPAST gene detected in 16 SPG4 families in our cohort. Figure S2. Western blot analysis of novel mutations of SPAST gene in HEK 293T cells. Figure S3. Pedigree, sequencing chromatograms of 6 ADHSP families in our cohort. Figure S4. Pedigree, sequencing chromatograms of CYP7B1 gene detected in 16 unrelated SPG5 families in our cohort. Figure S5. Pedigree, sequencing chromatograms of 5 ARHSP families in our cohort. (DOCX 9157 kb
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders clini...
Figure S1. Geographic origin of Chinese patients with sarcoglycanopathies and the common mutations i...
Table S1. Four hundred and twenty genes included in the neuromuscular disease panel. (DOCX 18 kb
Figure S1. Electrophoregram of the proband. It is an electrophoregram of the numbers of CAG repeats ...
Table S2. The ataxia gene panel. It is a list of hereditary ataxia-related genes analysed in the pro...
Table S1. Dynamic mutation test results. It shows the triple nucleotide (CAG) repeat numbers of the ...
Table S4. Variation annotations of the proband. It is an excel table containing the detailed annotat...
Table S3. Family verification results. It is the first generation verification results of the varian...
IVA analysis of WGS data. Filters applied (see methods) revealed 3 variants in 3 genes (NT5C2, NINL ...
<b><i>Background:</i></b> Hereditary spastic paraplegias constitute a heterogeneous group of inherit...
Figure S1. SLCO1A2 rs11568563 GWAS signal set. LD Manhattan plot for rs11568563 in the 1000G phase3:...
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative...
Figure S1. Significant variants diagrams for UGT1A1 gene. Figure S2. Results of NaCl induced OFT. Ta...
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative...
Expression of the AP4M1 gene in several regions of the human brain throughout development and aging....
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders clini...
Figure S1. Geographic origin of Chinese patients with sarcoglycanopathies and the common mutations i...
Table S1. Four hundred and twenty genes included in the neuromuscular disease panel. (DOCX 18 kb
Figure S1. Electrophoregram of the proband. It is an electrophoregram of the numbers of CAG repeats ...
Table S2. The ataxia gene panel. It is a list of hereditary ataxia-related genes analysed in the pro...
Table S1. Dynamic mutation test results. It shows the triple nucleotide (CAG) repeat numbers of the ...
Table S4. Variation annotations of the proband. It is an excel table containing the detailed annotat...
Table S3. Family verification results. It is the first generation verification results of the varian...
IVA analysis of WGS data. Filters applied (see methods) revealed 3 variants in 3 genes (NT5C2, NINL ...
<b><i>Background:</i></b> Hereditary spastic paraplegias constitute a heterogeneous group of inherit...
Figure S1. SLCO1A2 rs11568563 GWAS signal set. LD Manhattan plot for rs11568563 in the 1000G phase3:...
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative...
Figure S1. Significant variants diagrams for UGT1A1 gene. Figure S2. Results of NaCl induced OFT. Ta...
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative...
Expression of the AP4M1 gene in several regions of the human brain throughout development and aging....
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders clini...
Figure S1. Geographic origin of Chinese patients with sarcoglycanopathies and the common mutations i...
Table S1. Four hundred and twenty genes included in the neuromuscular disease panel. (DOCX 18 kb