GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies-Reference-Cited by-同舟云学术

GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies

Published:2017-01-04 Issue:1 Volume:12 Page:e0169309
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Haugarvoll Kristoffer,Johansson Stefan,Rodriguez Carlos E.,Boman Helge,Haukanes Bjørn Ivar,Bruland Ove,Roque Francisco,Jonassen Inge,Blomqvist Maria,Telstad Wenche,Månsson Jan-Eric,Knappskog Per Morten,Bindoff Laurence A.^ORCID

Funder

Forening for muskelsyke

Helse Vest (NO)

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference28 articles.

1. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity;MB Hammer;Am J Hum Genet,2013

2. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia;E Martin;Am J Hum Genet,2013

3. 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 callosum;A Boukhris;Neurogenetics,2010

4. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis;A Citterio;J Neurol,2014

5. A novel GBA2 gene missense mutation in spastic ataxia;C Votsi;Ann Hum Genet,2014

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1. Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature;Neurogenetics;2024-02-09

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3. Disorders of Complex Lipids;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

4. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype;Neurological Sciences;2021-07-12

5. Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes);Molecular Brain;2021-05-10