Associated Papers
Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.
Giannoccaro MP et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1).
Fisher MJ et al.
Acta Neuropathologica, 2021
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.
Han SS et al.
Human Genetics, 2001
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R et al.
American Journal of Human Genetics, 2000
Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8.
Horn D et al.
Electrophoresis, 1996
Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs.
Rodenhiser D et al.
Oncogene, 1996
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