(Q78194326)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

title

Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

author name string

D Lacomis

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

J T Gonzales

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

M J Giuliani

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

publication date

1 June 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

Clinical Neurology and Neurosurgery

12 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

volume

101

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

page(s)

133-136

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

Phenotype and genotype in the myotonic disorders.

12 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Genetics and physiology of the myotonic muscle disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

1 reference

7 January 2021

The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

AAEE minimonograph #27: differential diagnosis of myotonic syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Myotonia congenita in pregnancy

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

The effect of pregnancy on dystrophia myotonica

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Clinical effects of myotonic dystrophy on pregnancy and the neonate

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

A novel muscle sodium channel mutation causes painful congenital myotonia

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Proximal myotonic myopathy with MRI white matter abnormalities of the brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Myotonic muscular dystrophy associated with ritodrine tocolysis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

Fenoterol precipitating myotonia in a minimally affected case of recessive myotonia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0303-8467%2899%2900019-0

7 January 2021

10.1016/S0303-8467(99)00019-0

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10467912%20AND%20SRC:MED&resulttype=core&format=json

12 December 2019

1 reference