Associated Papers
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Fang SY et al.
Annals of Clinical and Translational Neurology, 2023
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2022
Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene.
Boysen S et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2022
Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6.
Fu J et al.
Frontiers in Genetics, 2022
Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.
Shi Y et al.
Frontiers in Neurology, 2022
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.
Fabbro D et al.
Journal of Human Genetics, 2021
SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.
Spagnoli C et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2021
[Autosomal dominant spastic paraplegias].
Rudenskaya GE et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2021
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.
Tanti M et al.
Neurogenetics, 2020
The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.
Rafi SK et al.
International Journal of Molecular Sciences, 2020
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
Zhao M et al.
Molecular Diagnosis & Therapy, 2019
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
Kim A et al.
Cerebellum (london, England), 2019
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu C et al.
Journal of Molecular Medicine (berlin, Germany), 2018
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
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
Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
Luo Y et al.
Neuro-degenerative Diseases, 2014
Recurrent de novo c.316G>A mutation in NIPA1 hotspot.
Hedera P
Journal of the Neurological Sciences, 2013
Pathogenesis of autosomal dominant hereditary spastic paraplegia (SPG6) revealed by a rat model.
Watanabe F et al.
Journal of Neuropathology and Experimental Neurology, 2013
A diagnostic gene chip for hereditary spastic paraplegias.
Luo Y et al.
Brain Research Bulletin, 2013
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.
Martinez-Lage M et al.
Acta Neuropathologica, 2012
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Blauw HM et al.
Human Molecular Genetics, 2012
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
Svenstrup K et al.
European Journal of Neurology, 2011
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.
Du J et al.
Clinical Neurology and Neurosurgery, 2011
The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1.
Botzolakis EJ et al.
Molecular and Cellular Neurosciences, 2011
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.
Tsang HT et al.
Human Molecular Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanism.
Zhao J et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.
Beetz C et al.
Journal of the Neurological Sciences, 2008
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.
Liu SG et al.
Journal of the Neurological Sciences, 2008
NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.
Goytain A et al.
The Journal of Biological Chemistry, 2007
Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules.
Wang X et al.
Nature Neuroscience, 2007
Childhood-onset spastic paraplegia with NIPAL gene mutation.
Bien-Willner R et al.
Journal of Child Neurology, 2006
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
Kaneko S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).
Munhoz RP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2006
Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias.
Soderblom C et al.
Pharmacology & Therapeutics, 2006
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.
Reed JA et al.
Neurogenetics, 2005
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.
Chen S et al.
Human Mutation, 2005
[Rett's syndrome: report of 5 cases in Tunisia].
Triki C et al.
Revue Neurologique, 1999