Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies (Q58866850)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies (English)

1 reference

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5 November 2019

main subject

cognitive dysfunction

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3

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5 November 2019

Giacomo P Comi

4

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5 November 2019

Nereo Bresolin

7

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5 November 2019

author name string

A Bardoni

1

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5 November 2019

G Felisari

2

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5 November 2019

M Lai

5

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5 November 2019

M Robotti

6

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5 November 2019

publication date

1 March 2000

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5 November 2019

published in

Neuromuscular Disorders

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5 November 2019

volume

10

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5 November 2019

issue

3

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5 November 2019

page(s)

194-199

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The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history

5 November 2019

cites work

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7 January 2021

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters

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7 January 2021

Central nervous system involvement in progressive muscular dystrophy

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Cognitive impairment in Duchenne muscular dystrophy.

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A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

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7 January 2021

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus

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7 January 2021

Genetic and clinical correlations of Xp21 muscular dystrophy

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7 January 2021

Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy

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7 January 2021

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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7 January 2021

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

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7 January 2021

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

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7 January 2021

Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach

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7 January 2021

Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene

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7 January 2021

Dystrophin is transcribed in brain from a distant upstream promoter.

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7 January 2021

Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy

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7 January 2021

Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates

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7 January 2021

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients

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7 January 2021

Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?

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7 January 2021

Point mutations in the dystrophin gene

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7 January 2021

Deletion status and intellectual impairment in Duchenne muscular dystrophy.

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7 January 2021

A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.

1 reference

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7 January 2021

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.

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7 January 2021

The rsp5-domain is shared by proteins of diverse functions

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7 January 2021

The WW domain: a signalling site in dystrophin?

1 reference

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7 January 2021

Dp140: alternatively spliced isoforms in brain and kidney

1 reference

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7 January 2021

10.1016/S0960-8966(99)00108-X

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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