(Q45863762)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Nicolas Levy

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

William Lostal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Danielle Depetris

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

author name string

Martin Krahn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Nicolas Wein

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Sébastien Courrier

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Nathalie Bourg-Alibert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Karine Nguyen

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Christophe Vial

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Nathalie Streichenberger

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Véronique Labelle

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Christophe Pécheux

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

France Leturcq

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Pierre Cau

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Isabelle Richard

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

language of work or name

English

0 references

publication date

1 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

Science Translational Medicine

14 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

issue

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

page(s)

50ra69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Surface wound healing: a new, general function of eukaryotic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Defective membrane repair in dysferlin-deficient muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Dysferlin is a plasma membrane protein and is expressed early in human development

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

The C2 domain calcium-binding motif: structural and functional diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Dynamic interactions of behavior and amine neurochemistry in acquisition and maintenance of social rank in crayfish

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

How to go about diagnosing and managing the limb-girdle muscular dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Analysis of the DYSF mutational spectrum in a large cohort of patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Packaging capacity of adeno-associated virus serotypes: impact of larger genomes on infectivity and postentry steps

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Efficient adenovirus-mediated transfer of a human minidystrophin gene to skeletal muscle of mdx mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Synthetic muscle promoters: activities exceeding naturally occurring regulatory sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Genetic manipulation of dysferlin expression in skeletal muscle: novel insights into muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Plasma membrane repair is mediated by Ca(2+)-regulated exocytosis of lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Screening for subtelomeric rearrangements using automated fluorescent genotyping of microsatellite markers: a Lebanese study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Fast and reliable titration of recombinant adeno-associated virus type-2 using quantitative real-time PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.3000951

10.1126/SCITRANSLMED.3000951

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861509%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference