Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients
Author:
Publisher
Elsevier BV
Subject
Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery
Reference23 articles.
1. Erfanian Omidvar M,Torkamandi S,Rezaei S, et al. Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients. J Neurol. Epub ahead of print2019 Nov 19.
2. Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting;Klebe;Revue Neurologique,2015
3. Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches;Shribman;Lancet Neurol,2019
4. Stevanin G, Azzedine H, Denora P, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2008;131:772–84.
5. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia;Paisan-Ruiz;Neurology,2008
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1. Hereditary Spastic Paraplegia Type 11—Clinical, Genetic and Neuroimaging Characteristics;International Journal of Molecular Sciences;2023-12-15
2. Syringomyelia: A New Phenotype of SPG11-Related Hereditary Spastic Paraplegia?;Brain & Neurorehabilitation;2023
3. “Ears of the lynx” sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers;Journal of Neurology;2022-05-25
4. Massive Parallel Sequencing and the Problem of Overlapping Phenotypes in Hereditary Spastic Paraplegias and Spinocerebellar Ataxias;Russian Journal of Genetics;2022-04
5. An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions;BMC Neurology;2022-01-03
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