(Q28468395)

1

object named as

Kristoffer Haugarvoll

Kristoffer

Haugarvoll

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

2

Stefan Johansson

Stefan

Johansson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

5

Bjørn Ivar Haukanes

Bjørn Ivar

Haukanes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

13

Laurence A Bindoff

Laurence A

Bindoff

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Carlos E Rodriguez

3

Carlos E

Rodriguez

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Helge Boman

4

Helge

Boman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ove Bruland

6

Ove

Bruland

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Francisco Roque

7

Francisco

Roque

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Inge Jonassen

8

Inge

Jonassen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Maria Blomqvist

9

Maria

Blomqvist

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Wenche Telstad

10

Wenche

Telstad

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jan-Eric Månsson

11

Jan-Eric

Månsson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Per Morten Knappskog

12

Per Morten

Knappskog

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

2017

0 references

published in

PLOS One

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

e0169309

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

9 June 2020

copyright license

start time

4 January 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

PLINK: a tool set for whole-genome association and population-based linkage analyses

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

Linkage studies on Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: significant differences between type I and type III.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

Large alterations in ganglioside and neutral glycosphingolipid patterns in brains from cases with infantile neuronal ceroid lipofuscinosis/polyunsaturated fatty acid lipidosis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5215700

A novel GBA2 gene missense mutation in spastic ataxia.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0169309

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0169309

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0169309

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0169309

Variable expression of leukocyte cytosolic broad-specificity beta-glucosidase activity

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28052128

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Myopathy with unique ultrastructural feature in Marinesco-Sjögren syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28052128

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28052128

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0169309

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28052128%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

28052128

1 reference