Associated Papers
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes.
Ramsey K et al.
Genes, 2025
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
Lagorce D et al.
European Journal of Human Genetics : Ejhg, 2024
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.
Elsayed LEO et al.
Frontiers in Molecular Biosciences, 2021
A Rare PSEN1 (Leu85Pro) Mutation Causing Alzheimer's Disease in a 29-Year-Old Woman Presenting as Corticobasal Syndrome.
López-García S et al.
Journal of Alzheimer's Disease : Jad, 2019
Hereditary spastic paraplegia: More than an upper motor neuron disease.
Parodi L et al.
Revue Neurologique, 2017
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
Mészárosová AU et al.
Journal of Human Genetics, 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
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.
Lan MY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2012
Loss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations.
Ozdowski EF et al.
Genetics, 2011
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.
McCorquodale DS et al.
Clinical Genetics, 2011
Evaluating the effect of spastin splice mutations by quantitative allele-specific expression assay.
Klimpe S et al.
European Journal of Neurology, 2011
Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.
Du F et al.
Human Molecular Genetics, 2010
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
Svenstrup K et al.
Journal of the Neurological Sciences, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.
Mancuso G et al.
Bmc Biology, 2008
Recent advances in the genetics of spastic paraplegias.
Stevanin G et al.
Current Neurology and Neuroscience Reports, 2008
Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.
Pantakani DV et al.
Clinical Genetics, 2008
Mental deficiency in three families with SPG4 spastic paraplegia.
Ribaï P et al.
European Journal of Human Genetics : Ejhg, 2008
A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.
Mitne-Neto M et al.
European Journal of Human Genetics : Ejhg, 2007
Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia.
Schickel J et al.
European Journal of Neurology, 2007
[SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance].
Ming L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo.
Wood JD et al.
Human Molecular Genetics, 2006
Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.
Evans K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2006
Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott CJ et al.
Neurology, 2006
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Patrono C et al.
Human Mutation, 2005
Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.
Svenson IK et al.
Neurogenetics, 2004