(Q36595132)

15 August 2017

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity (English)

1 reference

autosomal recessive cerebellar ataxia

15 August 2017

0 references

19

Andrew B Singleton

1 reference

15 August 2017

8

Dena G Hernandez

1 reference

15 August 2017

2

Ghada Eleuch-Fayache

1 reference

15 August 2017

5

J Raphael Gibbs

1 reference

15 August 2017

12

Huaibin Cai

1 reference

15 August 2017

15

Yosr Bouhlal

1 reference

15 August 2017

4

Houda Nehdi

1 reference

15 August 2017

14

Celeste Sassi

1 reference

15 August 2017

Lucia V Schottlaender

3

object named as

Lucia V Schottlaender

1 reference

15 August 2017

Monia B Hammer

1

1 reference

15 August 2017

Sampath K Arepalli

6

1 reference

15 August 2017

Sean B Chong

7

1 reference

15 August 2017

Anna Sailer

9

1 reference

15 August 2017

Guoxiang Liu

10

1 reference

15 August 2017

Pramod K Mistry

11

1 reference

15 August 2017

Ginamarie Shrader

13

1 reference

15 August 2017

Henry Houlden

16

1 reference

15 August 2017

Fayçal Hentati

17

1 reference

15 August 2017

Rim Amouri

18

1 reference

15 August 2017

language of work or name

English

0 references

publication date

17 January 2013

1 reference

American Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

92

1 reference

15 August 2017

2

1 reference

15 August 2017

245-251

1 reference

Reviewing the genetic causes of spastic-ataxias

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Recent advances in the genetics of cerebellar ataxias

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

The variant call format and VCFtools

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Integrative genomics viewer

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Autosomal recessive ataxias: 20 types, and counting

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Fast and accurate short read alignment with Burrows-Wheeler transform

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Autosomal recessive cerebellar ataxias

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

A pathogenetic classification of hereditary ataxias: is the time ripe?

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Molecular cloning and expression of human bile acid beta-glucosidase

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Acid beta-glucosidase: enzymology and molecular biology of Gaucher disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

HomozygosityMapper--an interactive approach to homozygosity mapping

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Distinct phenotypes within autosomal recessive ataxias not linked to already known loci

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567281

Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features

20 September 2018

1 reference

12 December 2020

Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase

1 reference

12 December 2020

Accumulation of Glucosylceramide in Murine Testis, Caused by Inhibition of β-Glucosidase 2

1 reference

12 December 2020

Plasma Membrane-Associated Glycohydrolases Along Differentiation of Murine Neural Stem Cells

1 reference

12 December 2020

10.1016/J.AJHG.2012.12.012

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

1 reference