References

10.1097/wco.0b013e3282f190ba

10.1097/wco.0b013e3282f190ba · External reference

Mutational Spectrum of SPAST (SPG4) and ATL1 (SPG3a) Genes In Russian Patients With Hereditary Spastic Paraplegia

10.1038/s41598-019-50911-9 · 2019 · External reference

Chapter 3 - The hereditary spastic paraplegias. Handbook of Clinical Neurology. D. S. Younger

2023 · External reference

10.1159/000358801

10.1159/000358801 · External reference

Clinical and genetic study of hereditary spastic paraplegia in Canada

10.1212/nxg.0000000000000122 · 2017 · External reference

Unresolved reference

External reference

10.3389/fmolb.2021.690899

10.3389/fmolb.2021.690899 · External reference

10.1590/0004-282x20170160

10.1590/0004-282x20170160 · External reference

10.1016/j.yexcr.2014.02.021

10.1016/j.yexcr.2014.02.021 · External reference

Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing

10.1007/s12311-019-01038-0 · 2019 · External reference

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

10.1007/s10048-016-0495-z · 2016 · External reference

10.1007/s10048-023-00717-9

10.1007/s10048-023-00717-9 · External reference

Perspectives on the genomics of HSP beyond mendelian inheritance

2018 · External reference

10.1002/mdc3.70115

10.1002/mdc3.70115 · External reference

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia

10.1007/s11910-021-01099-x · 2021 · External reference

Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec

10.1017/cjn.2020.277 · 2021 · External reference

The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia

10.3389/fneur.2023.1239725 · 2023 · External reference

10.1111/cge.70113

10.1111/cge.70113 · External reference

SPG4 founder effect in French Canadians with hereditary spastic paraplegia

10.1017/s0317167100006065 · 2007 · External reference

10.1002/mds.28528

10.1002/mds.28528 · External reference

Loss of Function Variants in CPT1C : No Support for a Causal Role in Hereditary Spastic Paraplegia

2025 · External reference

10.1093/nar/16.3.1215

10.1093/nar/16.3.1215 · External reference

10.1093/bioinformatics/btp324

10.1093/bioinformatics/btp324 · External reference

10.1101/gr.107524.110

10.1101/gr.107524.110 · External reference

10.1093/nar/gkq603

10.1093/nar/gkq603 · External reference

10.1007/s00401-013-1115-8

10.1007/s00401-013-1115-8 · External reference

10.1016/j.jns.2012.03.025

10.1016/j.jns.2012.03.025 · External reference

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

2012 · External reference

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

2002 · External reference

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment

2022 · External reference

Unresolved reference

External reference

10.1038/gim.2015.30

10.1038/gim.2015.30 · External reference

Variant-level matching for diagnosis and discovery: Challenges and opportunities

2022 · External reference

Unresolved reference

External reference

10.1016/s0960-8966(97)00122-3

10.1016/s0960-8966(97)00122-3 · External reference

10.3389/fneur.2018.00981

10.3389/fneur.2018.00981 · External reference

Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders

2024 · External reference

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

2025 · External reference

10.1212/wnl.46.6.1507

10.1212/wnl.46.6.1507 · External reference