Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Experience in the clinical and genetic diagnosis of a series of Algerian patients with hereditary spastic paraplegias.
Messaoud-Khelifi M et al.
Neurogenetics, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Founder SPG11 Mutation in the Baniya Community of India.
Agarwal A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Investigating the Protective Role of the Mitochondrial 2158 T > C Variant in Parkinson's Disease.
Akçimen F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Case report: High-frequency repetitive transcranial magnetic stimulation for treatment of hereditary spastic paraplegia type 11.
Chen S et al.
Frontiers in Neurology, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy.
Kunta AR et al.
Neurology. Genetics, 2022
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia.
Regensburger M et al.
Nutrients, 2022
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.
Utz KS et al.
Orphanet Journal of Rare Diseases, 2022
Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I et al.
Genes, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 2021
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.
Chen X et al.
Bmc Neurology, 2020
[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].
Lin SZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska E et al.
Neurogenetics, 2019
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
Jacinto-Scudeiro LA et al.
Frontiers in Neurology, 2019
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.
Wei Q et al.
Translational Neurodegeneration, 2019
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.
Du J et al.
The International Journal of Neuroscience, 2018
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.
Faber I et al.
Neuroimage. Clinical, 2018
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Burguez D et al.
Journal of the Neurological Sciences, 2017
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S et al.
European Journal of Human Genetics : Ejhg, 2017
Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
Kara E et al.
Brain : a Journal of Neurology, 2016
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
Hereditary spastic paraplegia type 11 with a very late onset.
Rubegni A et al.
Journal of Neurology, 2015
SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia.
Wijemanne S et al.
Movement Disorders Clinical Practice, 2015
Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita S et al.
Translational Neurodegeneration, 2015
The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report.
Querin G et al.
European Journal of Neurology, 2014
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Pensato V et al.
Brain : a Journal of Neurology, 2014
Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11.
Everett CM et al.
Journal of Neurology, 2012
White and grey matter abnormalities in patients with SPG11 mutations.
França MC et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.
Yoon WT et al.
European Journal of Neurology, 2012
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
Conceição Pereira M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI.
Stromillo ML et al.
Journal of Neurology, 2011
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Southgate L et al.
Neurogenetics, 2010
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
Paisán-Ruiz C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.
Orlacchio A et al.
Brain : a Journal of Neurology, 2010
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
Boukhris A et al.
Clinical Genetics, 2009
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.
Crimella C et al.
Journal of Medical Genetics, 2009