(Q34285414)

1 August 2017

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation (English)

1 reference

1 August 2017

0 references

1 reference

Esther Leshinsky-Silver

2

Esther Leshinsky-Silver

0 references

Tally Lerman-Sagie

5

Tally Lerman-Sagie

1 reference

1 August 2017

Stéphane Vassilopoulos

Stéphane Vassilopoulos

3

0 references

Dorit Lev

8

Dorit Lev

1 reference

1 August 2017

Johann Böhm

1

1 reference

1 August 2017

Stéphanie Le Gras

4

1 reference

1 August 2017

Mira Ginzberg

6

1 reference

1 August 2017

Bernard Jost

7

1 reference

1 August 2017

Jocelyn Laporte

9

1 reference

1 August 2017

3 July 2012

1 reference

1 August 2017

Acta Neuropathologica

1 reference

1 August 2017

124

1 reference

1 August 2017

4

1 reference

1 August 2017

575-581

1 reference

https://scigraph.springernature.com/pub.10.1007/s00401-012-1007-3

1 August 2017

0 references

cites work

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Centronuclear (myotubular) myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

What's new in congenital myopathies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Mutations in RYR1 in malignant hyperthermia and central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Pathological defects in congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

RYR1 mutations are a common cause of congenital myopathies with central nuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Salbutamol changes the molecular and mechanical properties of canine skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

A mutation in the human ryanodine receptor gene associated with central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-012-1007-3

10.1007/S00401-012-1007-3

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference