(Q48050907)

8 February 2018

title

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy (English)

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8 February 2018

author name string

Lalioti MD

1

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8 February 2018

Scott HS

2

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8 February 2018

Buresi C

3

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8 February 2018

Rossier C

4

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8 February 2018

Bottani A

5

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8 February 2018

Morris MA

6

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8 February 2018

Malafosse A

7

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8 February 2018

Antonarakis SE

8

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8 February 2018

language of work or name

English

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publication date

1 April 1997

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8 February 2018

published in

Nature

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8 February 2018

volume

386

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8 February 2018

issue

6627

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8 February 2018

page(s)

847-851

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8 February 2018

The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus.

cites work

1 reference

7 January 2021

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

1 reference

7 January 2021

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

7 January 2021

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

7 January 2021

Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome

1 reference

7 January 2021

The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells

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7 January 2021

Allelic heterogeneity of Mediterranean myoclonus and the cystatin B gene

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7 January 2021

Trinucleotide repeats in neurogenetic disorders

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7 January 2021

Trinucleotide repeat expansion and human disease

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7 January 2021

Dynamic mutations: a new class of mutations causing human disease

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7 January 2021

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

7 January 2021

Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

1 reference

7 January 2021

The cystatins: Protein inhibitors of cysteine proteinases

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7 January 2021

Absence of expression of the FMR-1 gene in fragile X syndrome

1 reference

7 January 2021

Identification of the gene FMR2, associated with FRAXE mental retardation

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7 January 2021

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

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7 January 2021

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

7 January 2021

Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

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7 January 2021

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

7 January 2021

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

1 reference

7 January 2021

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1 reference

7 January 2021

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

7 January 2021

Regulation of MHC class II genes: lessons from a disease

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7 January 2021

Transcriptional repression of eukaryotic promoters

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7 January 2021

Transcriptional inhibition of the murine erythropoietin receptor gene by an upstream repetitive element

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7 January 2021

Families of cysteine peptidases.

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7 January 2021

ICE-related proteases in apoptosis.

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7 January 2021

Isolation and characterization of the mouse cystatin B gene

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7 January 2021

Identifiers

DOI

10.1038/386847A0

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8 February 2018

Dimensions Publication ID

1026091387

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8 February 2018