(Q39558649)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

0 references

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

A Verrips

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

L H Hoefsloot

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

G C Steenbergen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

J P Theelen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

F J Gabreëls

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

B G van Engelen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

L P van den Heuvel

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

language of work or name

English

0 references

publication date

1 May 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

123 ( Pt 5)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

908-919

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Ocular and systemic manifestations of cerebrotendinous xanthomatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cerebrotendinous cholestanolosis in relation to other cerebral xanthomatoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cholestanol induces apoptosis of cerebellar neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Markedly reduced bile acid synthesis but maintained levels of cholesterol and vitamin D metabolites in mice with disrupted sterol 27-hydroxylase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cerebrotendinous xanthomatosis in two sisters: case reports and MR imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Mitochondrial enzyme deficiency in cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Hereditary tendinous and tuberous xanthomatosis without hyperlipidemia. A new lipid-storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous Xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Chronic diarrhoea as a dominating symptom in two children with cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Treatment and follow-up of children with cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

Paediatric cerebrotendinous xanthomatosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.908

21 January 2018

Identifiers

DOI

10.1093/BRAIN/123.5.908

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775536%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference