A novel GBA2 gene missense mutation in spastic ataxia. (Q44064243)

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1 March 2020

title

A novel GBA2 gene missense mutation in spastic ataxia (English)

1 reference

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1 March 2020

author

Kyproula Christodoulou

5

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1 March 2020

author name string

Christina Votsi

1

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1 March 2020

Eleni Zamba-Papanicolaou

2

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1 March 2020

Lefkos T Middleton

3

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1 March 2020

Marios Pantzaris

4

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1 March 2020

language of work or name

English

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publication date

20 November 2013

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1 March 2020

published in

Annals of Human Genetics

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1 March 2020

volume

78

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1 March 2020

issue

1

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1 March 2020

page(s)

13-22

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Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

1 March 2020

cites work

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Reviewing the genetic causes of spastic-ataxias

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Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

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Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

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Classification of the hereditary ataxias and paraplegias

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The non-lysosomal β-glucosidase GBA2 is a non-integral membrane-associated protein at the endoplasmic reticulum (ER) and Golgi

21 January 2018

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Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

21 January 2018

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Purification and characterization of a microsomal bile acid beta-glucosidase from human liver

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Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity

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A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

21 January 2018

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GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

21 January 2018

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A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

21 January 2018

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Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

21 January 2018

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