Associated Papers
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience.
Besen S et al.
Children (basel, Switzerland), 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.
Yao L et al.
Clinical Genetics, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Evolutionary mode and timing of dissemination of high-grade serous carcinomas.
Sveen A et al.
Jci Insight, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Movement disorders in hereditary spastic paraplegias.
Pedroso JL et al.
Arquivos De Neuro-psiquiatria, 2023
Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.
Baalmann N et al.
European Journal of Medical Genetics, 2023
Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Saffari A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Damásio J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Alotibi RS et al.
Frontiers in Pediatrics, 2023
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Brain Atrophy Is Substantially Accelerated in Neurological Wilson's Disease: A Longitudinal Study.
Smolinski L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Autologous iPSC-Derived Human Neuromuscular Junction to Model the Pathophysiology of Hereditary Spastic Paraplegia.
Costamagna D et al.
Cells, 2022
Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
Hashemi SS et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.
Li N et al.
Brain : a Journal of Neurology, 2022
[Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene].
Rudenskaya GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2022
De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Hadjinicolaou A et al.
Acta Neuropathologica Communications, 2021
A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.
Nan H et al.
Bmc Neurology, 2021
Evidence of mosaicism in SPAST variant carriers in four French families.
Angelini C et al.
European Journal of Human Genetics : Ejhg, 2021
Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano C et al.
American Journal of Medical Genetics. Part A, 2021
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference.
Takayama J et al.
Nature Communications, 2021
Hereditary spastic paraplegia initially diagnosed as cerebral palsy.
Suchowersky O et al.
Clinical Parkinsonism & Related Disorders, 2021
A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene.
Xu L et al.
Case Reports in Genetics, 2021
A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene.
Nan H et al.
Internal Medicine (tokyo, Japan), 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Hereditary spastic paraplegia masqueraded by congenital melanocytic nevus syndrome: Dual pathogenesis of germline non-mosaicism and somatic mosaicism.
Sakaguchi Y et al.
European Journal of Medical Genetics, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria.
Ogasawara M et al.
Neuropediatrics, 2019
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
An allosteric network in spastin couples multiple activities required for microtubule severing.
Sandate CR et al.
Nature Structural & Molecular Biology, 2019
De novo SPAST mutations may cause a complex SPG4 phenotype.
Schieving JH et al.
Brain : a Journal of Neurology, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 2018
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Takezawa Y et al.
Annals of Clinical and Translational Neurology, 2018
Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.
Gillespie MK et al.
Journal of Child Neurology, 2018