[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene] (Q80250258)

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scientific article published on 01 August 2004

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English	[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]	scientific article published on 01 August 2004

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

title

[The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene] (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

author name string

M Krasnianski

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

S Neudecker

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

M Deschauer

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

S Zierz

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

publication date

1 August 2004

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

published in

Der Nervenarzt

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

volume

75

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

issue

8

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

page(s)

770-775

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

cites work

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycosylation defects: a new mechanism for muscular dystrophy?

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The 10 autosomal recessive limb-girdle muscular dystrophies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenotype of limb-girdle muscular dystrophy type 2I

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/15221067

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00115-004-1726-3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

Dimensions Publication ID

1033731087

0 references

PubMed publication ID

15221067

1 reference

stated in

Europe PubMed Central

PubMed publication ID

15221067

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15221067%20AND%20SRC:MED&resulttype=core&format=json

retrieved

30 December 2019

 

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