Associated Papers
Novel and rare variants in amyotrophic lateral sclerosis genes identified in Malaysian patients.
Zulhairy-Liong NA et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.
Berry JG et al.
Ebiomedicine, 2025
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
Structural brain changes contributing to motor signs in pure hereditary spastic paraplegia type 4.
Piervincenzi C et al.
Journal of Neurology, 2025
Spastin and alsin protein interactome analyses begin to reveal key canonical pathways and suggest novel druggable targets.
Helmold BR et al.
Neural Regeneration Research, 2025
From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.
Degoutin M et al.
European 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
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis.
Lallemant-Dudek P et al.
Annals of Physical and Rehabilitation Medicine, 2023
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
Multiple roles for the cytoskeleton in ALS.
Liu X et al.
Experimental Neurology, 2022
FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia.
Kang HM et al.
Cell & Bioscience, 2022
A clinical and genetic study of SPG31 in Japan.
Hata T et al.
Journal of Human Genetics, 2022
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Rossi S et al.
Neurology. Genetics, 2022
A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum.
Nan H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.
Giordani GM et al.
Scientific Reports, 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
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
van Eyk CL et al.
Npj Genomic Medicine, 2021
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis NM et al.
American Journal of Medical Genetics. Part A, 2021
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 2021
Recent advances in understanding hereditary spastic paraplegias and emerging therapies.
Lallemant-Dudek P et al.
Faculty Reviews, 2021
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.
Elsayed LEO et al.
Frontiers in Molecular Biosciences, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
Pensato V et al.
Journal of Clinical Medicine, 2020
The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS.
Castellanos-Montiel MJ et al.
Frontiers in Cellular Neuroscience, 2020
The clinical and radiological profile of primary lateral sclerosis: a population-based study.
Finegan E et al.
Journal of Neurology, 2019
De novo SPAST mutations may cause a complex SPG4 phenotype.
Schieving JH et al.
Brain : a Journal of Neurology, 2019
New hypothesis for the etiology of SPAST-based hereditary spastic paraplegia.
Qiang L et al.
Cytoskeleton (hoboken, N.j.), 2019
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.
Parodi L et al.
Brain : a Journal of Neurology, 2018
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
Newton T et al.
Brain : a Journal of 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
Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach.
Burguez D et al.
Journal of the Neurological Sciences, 2017
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
Chelban V et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
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
Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
Balicza P et al.
Journal of the Neurological Sciences, 2016
Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
Solowska JM et al.
Brain : a Journal of Neurology, 2015
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
Cold temperature improves mobility and survival in Drosophila models of autosomal-dominant hereditary spastic paraplegia (AD-HSP).
Baxter SL et al.
Disease Models & Mechanisms, 2014
Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion.
Tremolizzo L et al.
Case Reports in Neurological Medicine, 2014
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
SPAST mutations in Australian patients with hereditary spastic paraplegia.
Vandebona H et al.
Internal Medicine Journal, 2012
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 2012
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
Distinct intracellular vesicle transport mechanisms are selectively modified by spastin and spastin mutations.
Fuerst JC et al.
Journal of Cellular Physiology, 2011