(Q57562593)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12921792%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12921792%20AND%20SRC:MED&resulttype=core&format=json

congenital muscular dystrophy

6 November 2019

main subject

1 reference

1 reference

3

1 reference

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6 November 2019

Serena J. Counsell

5

1 reference

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6 November 2019

Sonia Messina

7

1 reference

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6 November 2019

Sue Brown

9

1 reference

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Cecilia Jimenez-Mallebrera

6 November 2019

10

1 reference

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6 November 2019

author name string

E Mercuri

1

1 reference

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6 November 2019

C Cini

2

1 reference

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6 November 2019

J Allsop

4

1 reference

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6 November 2019

Z Zolkipli

6

1 reference

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6 November 2019

M Kinali

8

1 reference

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6 November 2019

M Brockington

11

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6 November 2019

Y Yuva

12

1 reference

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6 November 2019

F Muntoni

14

1 reference

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6 November 2019

C A Sewry

13

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6 November 2019

publication date

1 September 2003

1 reference

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6 November 2019

published in

Neuromuscular Disorders

1 reference

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6 November 2019

volume

13

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6 November 2019

issue

7-8

1 reference

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6 November 2019

page(s)

554-558

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A clinical and histological study of Ullrich's disease (congenital atonic-sclerotic muscular dystrophy)

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Ullrich's congenital atonic sclerotic muscular dystrophy. A case report

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Congenital muscular dystrophies: 1997 update

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Collagen VI deficiency in Ullrich's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Selective Muscle Involvement on Magnetic Resonance Imaging in Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Immunocytochemical analysis of human muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

CA repeat polymorphism of the COL6A3 gene on chromosome 2q37.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Calpain-3 deficiency causes a mild muscular dystrophy in childhood

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900091-9

7 January 2021

10.1016/S0960-8966(03)00091-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12921792%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference