The phenotype of limb-girdle muscular dystrophy type 2I (Q44411539)

2 December 2017

title

The phenotype of limb-girdle muscular dystrophy type 2I (English)

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000058902.88181.3D

limb-girdle muscular dystrophy

26 December 2023

main subject

1 reference

1 reference

3

J. Bourke

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12707425

26 December 2023

author name string

Anderson LV

5

1 reference

2 December 2017

M. Poppe

1

1 reference

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26 December 2023

L. Cree

2

1 reference

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26 December 2023

M. Eagle

4

1 reference

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26 December 2023

L. V B. Anderson

5

1 reference

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26 December 2023

D. Birchall

6

1 reference

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26 December 2023

M. Brockington

7

1 reference

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26 December 2023

M. Buddles

8

1 reference

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26 December 2023

M. Busby

9

1 reference

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26 December 2023

F. Muntoni

10

1 reference

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26 December 2023

A. Wills

11

1 reference

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26 December 2023

K. Bushby

12

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26 December 2023

language of work or name

English

0 references

publication date

1 April 2003

1 reference

2 December 2017

22 April 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12707425

full work available at URL

26 December 2023

https://www.neurology.org/doi/pdfdirect/10.1212/01.WNL.0000058902.88181.3D

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000058902.88181.3D

26 December 2023

1 reference

2 December 2017

volume

60

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2 December 2017

issue

8

1 reference

2 December 2017

page(s)

1246-1251

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66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands

2 December 2017

cites work

1

1 reference

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The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

26 December 2023

2

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Making sense of the limb-girdle muscular dystrophies

26 December 2023

3

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Dystrophin and muscular dystrophy: past, present, and future

26 December 2023

4

1 reference

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

26 December 2023

7

1 reference

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

26 December 2023

8

1 reference

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Abnormal merosin in adults. A new form of late onset muscular dystrophy not linked to chromosome 6q2.

26 December 2023

9

1 reference

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Multiplex Western blotting system for the analysis of muscular dystrophy proteins

26 December 2023

10

1 reference

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Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy

26 December 2023

13

1 reference

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Mutations in the sarcoglycan genes in patients with myopathy

26 December 2023

14

1 reference

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

26 December 2023

15

1 reference

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Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.

26 December 2023

16

1 reference

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The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach

26 December 2023

17

1 reference

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Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

26 December 2023

18

1 reference

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Immunocytochemical analysis of human muscular dystrophy

26 December 2023

21

1 reference

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Dystroglycan inside and out.

26 December 2023

22

1 reference

https://api.crossref.org/works/10.1212/01.WNL.0000058902.88181.3D

26 December 2023

Identifiers

1 reference

2 December 2017

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