Associated Papers
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
Saveri P et al.
Cells, 2020
32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
Chou CT et al.
Annals of Clinical and Translational Neurology, 2020
Genome sequencing analysis of blood cells identifies germline haplotypes strongly associated with drug resistance in osteosarcoma patients.
Bhuvaneshwar K et al.
Bmc Cancer, 2019
30991985 (PubMed )
Supplement: 12885_2019_5474_MOESM4_ESM.xlsx › 2016NovDec12_2016Dec12_85_15_GL
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
Schubert SF et al.
Molecular and Cellular Probes, 2016
Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.
Preissner SC et al.
Plos One, 2013
24340040 (PubMed )
Supplement: pone.0082562.s002.xlsx › CYP_SNP
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Arnoldi A et al.
Clinical Genetics, 2012
CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects.
Noreau A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2012
Ethnic differences in the prevalence of polymorphisms in CYP7A1, CYP7B1 AND CYP27A1 enzymes involved in cholesterol metabolism.
Dias V et al.
Journal of Pharmacy & Bioallied Sciences, 2011
Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.
Schüle R et al.
Journal of Lipid Research, 2010
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C et al.
Brain : a Journal of Neurology, 2009
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
Schüle R et al.
Neurogenetics, 2009
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