Associated Papers
Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.
Gibson LM et al.
International Journal of Molecular Sciences, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
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
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
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
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
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
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