(Q37769152)

22 August 2017

1 reference

title

Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects (English)

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22 August 2017

author name string

Luis Felipe Mendonça de Siqueira

series ordinal

1

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22 August 2017

publication date

1 July 2010

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22 August 2017

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22 August 2017

volume

257

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22 August 2017

issue

10

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22 August 2017

page(s)

1612-1619

1 reference

https://scigraph.springernature.com/pub.10.1007/s00415-010-5641-1

22 August 2017

exact match

0 references

cites work

Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5641-1

Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5641-1

Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5641-1

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5641-1

Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5641-1

Diagnosis of the neuronal ceroid lipofuscinoses: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-010-5641-1

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

21 January 2018

1 reference

12 December 2020

Zonisamide for the treatment of myoclonic seizures in progressive myoclonic epilepsy: an open-label study.

1 reference

12 December 2020

A variant of Jansky-Bielschowsky disease

1 reference

12 December 2020

The cystatins: Protein inhibitors of cysteine proteinases

1 reference

12 December 2020

The autosomal recessively inherited progressive myoclonus epilepsies and their genes

1 reference

12 December 2020

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

1 reference

12 December 2020

Valproate and clonazepam in the treatment of severe progressive myoclonus epilepsy

1 reference

12 December 2020

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

1 reference

12 December 2020

MITOMAP: a human mitochondrial genome database--1998 update

1 reference

12 December 2020

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1 reference

12 December 2020

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

1 reference

12 December 2020

Myoclonus epilepsy and ragged-red fibres (MERRF). 2. Electrophysiological studies and comparison with other progressive myoclonus epilepsies.

1 reference

12 December 2020

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations

1 reference

12 December 2020

Progressive myoclonus epilepsies: clinical and genetic aspects.

1 reference

12 December 2020

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

1 reference

12 December 2020

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

1 reference

12 December 2020

Clinical and neurophysiological development of Unverricht-Lundborg disease in four Swedish siblings.

1 reference

12 December 2020

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

1 reference

12 December 2020

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

1 reference

12 December 2020

Effects of vagus nerve stimulation on progressive myoclonus epilepsy of Unverricht-Lundborg type

1 reference

12 December 2020

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

12 December 2020

Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations.

1 reference

12 December 2020

Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome

1 reference

12 December 2020

Clinical features and genetics of myoclonic epilepsy with ragged red fibers

1 reference

12 December 2020

Myoclonus epilepsy and ragged-red fibres (MERRF). 1. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study

1 reference

12 December 2020

Mitochondrial disorders: analysis of their clinical and imaging characteristics.

1 reference

12 December 2020

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

1 reference

12 December 2020

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency

1 reference

12 December 2020

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

1 reference

12 December 2020

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

1 reference

12 December 2020

A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping

1 reference

12 December 2020

MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type.

1 reference

12 December 2020

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

1 reference

12 December 2020

MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis.

1 reference

12 December 2020

Type I sialidosis: a clinical, biochemical and neuroradiological study

1 reference

12 December 2020

Valproic acid impairs carnitine uptake in cultured human skin fibroblasts. An in vitro model for the pathogenesis of valproic acid-associated carnitine deficiency

1 reference

12 December 2020

Molecular background of EPM1-Unverricht-Lundborg disease

1 reference

12 December 2020

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical features and genetics of Unverricht-Lundborg disease.

1 reference

12 December 2020

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

1 reference

12 December 2020

"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin

1 reference

12 December 2020

Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice

1 reference

12 December 2020

Dentatorubral-pallidoluysian atrophy: clinical aspects and molecular genetics.

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial encephalomyopathies: therapeutic approaches

1 reference

12 December 2020

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

12 December 2020

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

1 reference

12 December 2020

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

1 reference

12 December 2020

The cherry-red spot-myoclonus syndrome

1 reference

12 December 2020

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

1 reference

12 December 2020

Molecular pathology of NEU1 gene in sialidosis

1 reference

12 December 2020

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

1 reference

12 December 2020

Zonisamide for progressive myoclonus epilepsy: long-term observations in seven patients

1 reference

12 December 2020

Lafora's disease: towards a clinical, pathologic, and molecular synthesis

1 reference

12 December 2020

10.1007/S00415-010-5641-1

Identifiers

DOI

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release_ryklflzflfd5ld5kj2ctanliee

22 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ryklflzflfd5ld5kj2ctanliee

24 November 2022

mapped directly with Wikidata item

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