(Q77601965)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

author name string

A Y Manzur

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

C A Sewry

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

J Ziprin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

V Dubowitz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

F Muntoni

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

publication date

1 October 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

published in

Neuromuscular Disorders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

volume

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

7

1 reference

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6 December 2019

page(s)

467-473

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

23rd ENMC Workshop on Rare Neuromuscular Diseases. 4-6 June, Baarn, The Netherlands

6 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

A new congenital non-progressive myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

Central core disease. Study of a family with five affected generations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

A new concept of childhood nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

Nemaline rod and central core disease: a coexisting Z-band myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

Muscle Target Fibres, a Newly Recognized Sign of Denervation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

Histochemical studies of denervated or tenotomized cat muscle: illustrating difficulties in relating experimental animal conditions to human neuromuscular diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

Central core disease-an investigation of a rare muscle cell abnormality

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

A sporadic case of central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900064-9

7 January 2021

10.1016/S0960-8966(98)00064-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829276%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference