(Q51705420)

English

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

scientific article published in October 2002

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Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). (English)

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

rigid spine syndrome

1 reference

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Pascale Guicheney

7

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Luciano Merlini

object named as

Luciano Merlini

9

0 references

Francesco Muntoni

8

object named as

Francesco Muntoni

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

author name string

Eugenio Mercuri

1

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Beril Talim

2

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Behzad Moghadaszadeh

3

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Nathalie Petit

4

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Martin Brockington

5

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Serena Counsell

6

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Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

publication date

1 October 2002

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Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Neuromuscular Disorders

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Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

12

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

7-8

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

631-638

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900023-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900023-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900023-8

7 January 2021

based on heuristic

inferred from DOI database lookup

41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900023-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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%2802%2900023-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Computed tomographic patterns of muscles in neuromuscular diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900023-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen VI deficiency in Ullrich's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900023-8

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900023-8

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(02)00023-8

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 April 2018

http://europepmc.org/abstract/MED/12207930

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