PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness (Q77601951)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference

M F Phillips

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

M T Rogers

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

R Barnetson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

C Braun

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

H G Harley

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

J Myring

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

D Stevens

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

C M Wiles

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

P S Harper

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%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:9829272%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:9829272%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:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

page(s)

439-446

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

Unstable DNA sequence in myotonic dystrophy

6 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Instability versus predictability: the molecular diagnosis of myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

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%2FS0960-8966%2898%2900054-6

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%2FS0960-8966%2898%2900054-6

7 January 2021

Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Simple non-invasive method to obtain DNA for gene analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

The genomic structure of human V beta 6 T cell antigen receptor genes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

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%2FS0960-8966%2898%2900054-6

7 January 2021

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Proximal weakness as the primary manifestation of myotonic dystrophy in older adults

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Early recognition of heterozygotes for the gene for dystrophia myotonica

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Pre-symptomatic detection and genetic counselling in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Cataract and myotonic dystrophy: the role of molecular diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Hearing loss in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Gonadal Function in Males with Myotonic Dystrophy1

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Primary hyperthyroidism and associated hyperparathyroidism in a patient with myotonic dystrophy: Steinert with hyperthyroidism and hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Whole body insulin resistance in myotonic dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Insulin Resistance in Myotonie Dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Muscular dystrophies: diseases of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Mutations in the sarcoglycan genes in patients with myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

54th ENMC International Workshop: PROMM (proximal myotonic myopathies) and other proximal myotonic syndromes. 10-12th October 1997, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

The skeletal muscle sodium and chloride channel diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Phenotype variation and newcomers in ion channel disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Hearing loss in facioscapulohumeral dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Hearing loss in facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

The auditory, vestibular, and oculomotor system in facioscapulohumeral dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Neurosensory hearing loss in secondary adhalinopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900054-6

7 January 2021

10.1016/S0960-8966(98)00054-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829272%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference