Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis (Q60050796)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

0 references

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Maria Laura Manca

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Massimo Gennarelli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Corrado Angelini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

A Rocchi

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

A Iudice

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Miorin

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

M Mostacciuolo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

publication date

1 May 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

volume

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

page(s)

344-349

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

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

7 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Ethnic distribution of myotonic dystrophy gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Genetic epidemiology of myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

On the classification, natural history and treatment of the myopathies.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

A Single Polymerase Chain Reaction-Based Protocol for Detecting Normal and Expanded Alleles in Myotonic Dystrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Meiotic drive at the myotonic dystrophy locus

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Population frequencies of inherited neuromuscular diseases—A world survey

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

The prevalence of inherited neuromuscular disease in Northern Ireland

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Genetic epidemiology of myotonic dystrophy in Istria, Croatia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Myotonic dystrophy and proximal myotonic myophathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Myotonia congenita and myotonic dystrophy: descriptive epidemiological investigation in Turin, Italy (1955-1979).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Prevalence of myotonic dystrophy in Guipúzcoa (Basque Country, Spain).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Detection of a premutation in Japanese myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Segregation distortion in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Myotonic dystrophy and pregnancy. A report of two cases and a review of the literature

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590508.X

7 January 2021

10.1034/J.1399-0004.2001.590508.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11359466%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

1 reference