(Q39668411)

13 September 2017

title

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene (English)

1 reference

13 September 2017

0 references

Marc Bartoli

12

0 references

Christophe Beroud

object named as

Christophe Beroud

2

0 references

Nicolas Levy

object named as

Nicolas Lévy

13

0 references

Gaëlle Blandin

1

object named as

Gaelle Blandin

1 reference

13 September 2017

Veronique Labelle

3

1 reference

13 September 2017

Karine Nguyen

4

1 reference

13 September 2017

Nicolas Wein

5

1 reference

13 September 2017

Dalil Hamroun

6

1 reference

13 September 2017

Brad Williams

7

1 reference

13 September 2017

Nilah Monnier

8

1 reference

13 September 2017

Laura E Rufibach

9

1 reference

13 September 2017

Jon Andoni Urtizberea

10

1 reference

13 September 2017

Pierre Cau

11

1 reference

13 September 2017

Martin Krahn

14

1 reference

13 September 2017

publication date

29 December 2011

1 reference

13 September 2017

1 reference

13 September 2017

volume

33

1 reference

13 September 2017

issue

3

1 reference

13 September 2017

page(s)

E2317-31

1 reference

Therapeutic exon skipping for dysferlinopathies?

13 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Defective membrane repair in dysferlin-deficient muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

UMD (Universal Mutation Database): 2005 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

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/10.1002%2FHUMU.22015

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

The Pfam protein families database

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Characterisation of the dysferlin skeletal muscle promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

New aspects on patients affected by dysferlin deficient muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

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/10.1002%2FHUMU.22015

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Limb-girdle muscular dystrophies--from genetics to molecular pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Dysferlin Interacts with Annexins A1 and A2 and Mediates Sarcolemmal Wound-healing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

SMART 6: recent updates and new developments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Therapeutic exon 'switching' for dysferlinopathies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

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/10.1002%2FHUMU.22015

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

A new phenotype of dysferlinopathy with congenital onset.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Developmental and tissue-specific regulation of a novel dysferlin isoform.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Dysferlin-deficient muscular dystrophy features amyloidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Dysfunction of dysferlin-deficient hearts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

Late onset in dysferlinopathy widens the clinical spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

7 January 2021

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

7 January 2021

A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

7 January 2021

Symptomatic dysferlin gene mutation carriers: Characterization of two cases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

7 January 2021

Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

7 January 2021

Limb-girdle muscular dystrophy: a follow-up study of 79 patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

7 January 2021

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

7 January 2021

Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49–51

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22015

7 January 2021

Identifiers

DOI

10.1002/HUMU.22015

1 reference

13 September 2017

1 reference