(Q44321519)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12595585%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

title

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup (English)

1 reference

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31 October 2019

1 reference

1 reference

1 reference

1 reference

4

1 reference

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31 October 2019

author name string

Joseph K Park

1

1 reference

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31 October 2019

Eduard Orvisky

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12595585%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

Nahid Tayebi

3

1 reference

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31 October 2019

Mary E Lamarca

5

1 reference

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31 October 2019

Barbara K Stubblefield

6

1 reference

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31 October 2019

Brian M Martin

7

1 reference

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31 October 2019

Raphael Schiffmann

8

1 reference

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31 October 2019

Ellen Sidransky

9

1 reference

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31 October 2019

language of work or name

English

0 references

publication date

1 March 2003

1 reference

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31 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12595585%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

volume

53

1 reference

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31 October 2019

issue

3

1 reference

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31 October 2019

page(s)

387-395

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000049515.79882.94

31 October 2019

exact match

0 references

cites work

Gaucher's disease: molecular, genetic and enzymological aspects

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Occurrence of Parkinson's syndrome in type I Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Ocular Motor Signs in Some Metabolic Diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Progressive myoclonic epilepsy due to Gaucher's disease in an adult

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Non-infantile neuronopathic Gaucher's disease: a clinicopathologic study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Clinical variation in 2 related children with neuronopathic Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Epilepsy genes: the link between molecular dysfunction and pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Advances in the genetics of progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Characterization of neuronal intermediate filament protein expression in cervical spinal motor neurons in sporadic amyotrophic lateral sclerosis (ALS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

The E326K mutation and Gaucher disease: mutation or polymorphism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

On the significance of giant somatosensory evoked potentials in cortical myoclonus

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Hyperexcitable cortical responses in progressive myoclonic epilepsy: a TMS study

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Isolation of a novel gene underlying batten disease, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Genetics of the epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Hematologically important mutations: Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Echocardiographic assessment of pulmonary hypertension in Gaucher's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Gaudier patients with oculomotor abnormalities do not have a unique genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Enzyme infusion therapy of the Norrbottnian (type 3) Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Gaucher disease--Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Differentiation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Three unique base pair changes in a family with Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Gaucher disease: four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Prevalent and rare mutations among Gaucher patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000049515.79882.94

10.1203/01.PDR.0000049515.79882.94

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12595585%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 October 2019

1027508441

0 references

1 reference