(Q62661554)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

proximal myotonic myopathy

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

author name string

R Krahe

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

M Liguori

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

D Tessarolo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

M J Siciliano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

T Ashizawa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

M Giacanelli

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

publication date

1 October 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

number of pages

7

1 reference

inferred from page(s)

published in

Journal of Neurology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

volume

243

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

715-721

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8923304%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00873977

21 October 2019

exact match

0 references

cites work

Criteria for establishing the validity of genetic recombination in myotonic dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene

1 reference

12 December 2020

Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus.

1 reference

12 December 2020

AAEE minimonograph #27: differential diagnosis of myotonic syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

1 reference

12 December 2020

Huntington disease without CAG expansion: phenocopies or errors in assignment?

1 reference

12 December 2020

Potentially fatal cardiac dysrhythmia and hyperkalemic periodic paralysis

1 reference

12 December 2020

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

1 reference

12 December 2020

Failure in detecting mRNA transcripts from the mutated allele in myotonic dystrophy muscle

1 reference

12 December 2020

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

1 reference

12 December 2020

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

1 reference

12 December 2020

De novo myotonic dystrophy mutation in a Nigerian kindred.

1 reference

12 December 2020

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

1 reference

12 December 2020

Myotonic dystrophy with no trinucleotide repeat expansion

1 reference

12 December 2020

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

1 reference

12 December 2020

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

12 December 2020

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

1 reference

12 December 2020

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

1 reference

12 December 2020