Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG13
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8
A synergetic effect of BARD1 mutations on tumorigenesis.
Li W et al.
Nature Communications, 2021
33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1
Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.
Yamamoto T et al.
Human Genome Variation, 2018
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
28993730 (PubMed )
Supplement: Table3.xlsx › Germline
Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex.
Bross P et al.
Frontiers in Molecular Biosciences, 2016
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.
Tesson C et al.
Human Genetics, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC1_ERR166303
Large deletion mutation of SPAST in a multi-generation family from Sardinia.
Racis L et al.
European Journal of Neurology, 2014
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 2009
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.
Salinas S et al.
The Lancet. Neurology, 2008
HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier.
Hewamadduma CA et al.
Neurology, 2008
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