Associated Papers
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
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
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.
Fabbro D et al.
Journal of Human Genetics, 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
Recurrent de novo c.316G>A mutation in NIPA1 hotspot.
Hedera P
Journal of the Neurological Sciences, 2013
TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.
Martinez-Lage M et al.
Acta Neuropathologica, 2012
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
Dufke C et al.
Neurogenetics, 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
Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.
Murphy S et al.
Neurology, 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
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
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
Rainier S et al.
American Journal of Human Genetics, 2003