Associated Papers
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Wang XC et al.
Molecular Medicine Reports, 2023
Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.
Zou H et al.
Nucleic Acids Research, 2022
35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
31285604 (PubMed )
Supplement: NIHMS1530257-supplement-3.pdf
A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.
Yu AC et al.
Frontiers in Neuroscience, 2019
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H et al.
Journal of Human Genetics, 2016
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
27077743 (PubMed )
Supplement: pone.0153283.s002.pdf
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Solowska JM et al.
Brain : a Journal of Neurology, 2015
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H et al.
Journal of Human Genetics, 2014
Novel and recurrent spastin mutations in a large series of SPG4 Italian families.
Nanetti L et al.
Neuroscience Letters, 2012
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V et al.
Bmc Neurology, 2010
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
Shoukier M et al.
European Journal of Human Genetics : Ejhg, 2009
Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.
Erichsen AK et al.
European Journal of Neurology, 2007
Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.
Depienne C et al.
Journal of Medical Genetics, 2006
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