(Q37197499)

18 August 2017

The Clinical Outcome Study for dysferlinopathy: An international multicenter study (English)

1 reference

multicenter clinical trial

18 August 2017

0 references

1 reference

Emmanuelle Salort-Campana

26

Emmanuelle Salort-Campana

0 references

Elizabeth Harris

Elizabeth Harris

1

0 references

Carmen Paradas

Carmen Paradas

23

0 references

Jordi Díaz-Manera

Jordi Díaz-Manera

15

0 references

Volker Straub

31

Volker Straub

1 reference

18 August 2017

20

Hanns Lochmüller

1 reference

18 August 2017

9

Avital Cnaan

1 reference

18 August 2017

29

Simone Spuler

1 reference

18 August 2017

17

Ulrike Grieben

1 reference

18 August 2017

Catherine L Bladen

2

1 reference

18 August 2017

Anna Mayhew

3

1 reference

18 August 2017

Meredith James

4

1 reference

18 August 2017

Karen Bettinson

5

1 reference

18 August 2017

Ursula Moore

6

1 reference

18 August 2017

Fiona E Smith

7

1 reference

18 August 2017

Laura Rufibach

8

1 reference

18 August 2017

Diana X Bharucha-Goebel

10

1 reference

18 August 2017

Andrew M Blamire

11

1 reference

18 August 2017

Elena Bravver

12

1 reference

18 August 2017

Pierre G Carlier

13

1 reference

18 August 2017

John W Day

14

1 reference

18 August 2017

Michelle Eagle

16

1 reference

18 August 2017

Matthew Harms

18

1 reference

18 August 2017

Kristi J Jones

19

1 reference

18 August 2017

Jerry R Mendell

21

1 reference

18 August 2017

Madoka Mori-Yoshimura

22

1 reference

18 August 2017

Elena Pegoraro

24

1 reference

18 August 2017

Alan Pestronk

25

1 reference

18 August 2017

Emmanuelle Salort-Campana

26

1 reference

18 August 2017

Olivia Schreiber-Katz

27

1 reference

18 August 2017

Claudio Semplicini

28

1 reference

18 August 2017

Tanya Stojkovic

30

1 reference

18 August 2017

Shin'ich Takeda

32

1 reference

18 August 2017

Carolina Tesi Rocha

33

1 reference

18 August 2017

M C Walter

34

1 reference

18 August 2017

Kate Bushby

35

1 reference

18 August 2017

Jain COS Consortium

36

1 reference

18 August 2017

4 August 2016

1 reference

18 August 2017

1 reference

18 August 2017

2

1 reference

18 August 2017

4

1 reference

18 August 2017

e89

1 reference

Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Heterogeneous characteristics of Korean patients with dysferlinopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Novel diagnostic features of dysferlinopathies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

New aspects on patients affected by dysferlin deficient muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Renal function in children and adolescents with Duchenne muscular dystrophy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Respiratory and cardiac function in japanese patients with dysferlinopathy.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

A new phenotype of dysferlinopathy with congenital onset.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Dysferlinopathy: a clinical and histopathological study of 28 patients from India

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Dysfunction of dysferlin-deficient hearts.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Late onset in dysferlinopathy widens the clinical spectrum

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4994875

Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy

4 December 2018

1 reference

12 December 2020

One gene, one or many diseases? Simplifying dysferlinopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Progressive dysphagia in limb-girdle muscular dystrophy type 2B

1 reference

12 December 2020

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

1 reference

12 December 2020

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1212/NXG.0000000000000089

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

1 reference