(Q38365594)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

review article

1 reference

title

The progressive myoclonic epilepsies (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

2

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1 March 2020

author name string

Naveed Malek

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

John Greene

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

publication date

26 February 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

page(s)

164-171

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

Myoclonus: a pragmatic approach

1 March 2020

cites work

1 reference

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Progressive myoclonic epilepsies: it takes a village to make a diagnosis

21 January 2018

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Reversibility of neuropathology in Tay-Sachs-related diseases

21 January 2018

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Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery.

21 January 2018

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Effective intravenous therapy for neurodegenerative disease with a therapeutic enzyme and a peptide that mediates delivery to the brain

21 January 2018

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Gaucher disease and its treatment options

21 January 2018

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Clinical picture of EPM1-Unverricht-Lundborg disease

21 January 2018

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Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

21 January 2018

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Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes

21 January 2018

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Early-onset Lafora body disease

21 January 2018

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Lafora progressive myoclonus epilepsy: recent insights into cell degeneration

21 January 2018

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Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder

21 January 2018

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Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

21 January 2018

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SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.

21 January 2018

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A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

21 January 2018

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Prickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesis

21 January 2018

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A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

21 January 2018

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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

21 January 2018

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Myoclonus in mitochondrial disorders

21 January 2018

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MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).

21 January 2018

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Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama

21 January 2018

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21 January 2018

Human pathology in NCL.

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The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease

21 January 2018

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Dentatorubral-pallidoluysian atrophy

21 January 2018

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Dentatorubral-pallidoluysian atrophy (DRPLA): close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation

21 January 2018

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Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients

21 January 2018

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Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis.

21 January 2018

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Cherry red spot in sialidosis (mucolipidosis type I).

21 January 2018

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Molecular pathology of NEU1 gene in sialidosis

21 January 2018

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The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci

21 January 2018

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Biochemical consequences of mutations causing the GM2 gangliosidoses

21 January 2018

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Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

21 January 2018

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Gaucher disease patient with myoclonus epilepsy and a novel mutation

21 January 2018

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Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

21 January 2018

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Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India

21 January 2018

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Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort study

21 January 2018

1 reference

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Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

21 January 2018

1 reference

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Treatment of myoclonic seizures

21 January 2018

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Lamotrigine associated with exacerbation or de novo myoclonus in idiopathic generalized epilepsies

21 January 2018

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Antimyoclonic effect of levetiracetam in 13 patients with Unverricht-Lundborg disease: clinical observations.

21 January 2018

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Long-term observations of two siblings with Lafora disease treated with zonisamide

21 January 2018

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Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo

21 January 2018

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White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice

21 January 2018

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10.1136/PRACTNEUROL-2014-000994

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25720773%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

1 reference