A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report
Open Access
- 1 June 2020
- journal article
- Published by Elsevier BV in eNeurologicalSci
- Vol. 19, 100238
- https://doi.org/10.1016/j.ensci.2020.100238
Abstract
No abstract availableFunding Information
- Ministry of Education, Culture, Sports, Science and Technology
- Ministry of Health, Labour and Welfare
- Japan Society for the Promotion of Science (JP18K07495)
- Research Committee for Ataxic Disease
This publication has 7 references indexed in Scilit:
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- JASPAC: Japan Spastic Paraplegia Research ConsortiumBrain Sciences, 2018
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- SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in ChinaZeitschrift für Neurologie, 2016
- Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic ParaplegiaAmerican Journal of Human Genetics, 2013
- A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosumneurogenetics, 2010