Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations. (Q52141255)

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scientific article published in January 2001

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English	Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations.	scientific article published in January 2001

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instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

title

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

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

main subject

dysferlinopathy

1 reference

based on heuristic

inferred from title

homozygosity

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based on heuristic

inferred from title

author name string

I Mahjneh

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

G Marconi

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

K Bushby

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

L V Anderson

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

H Tolvanen-Mahjneh

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

H Somer

series ordinal

6

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

publication date

1 January 2001

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

published in

Neuromuscular Disorders

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

volume

11

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

issue

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

page(s)

20-26

1 reference

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Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

cites work

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

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7 January 2021

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inferred from DOI database lookup

Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

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7 January 2021

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inferred from DOI database lookup

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s)

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900157-7

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

DOI

10.1016/S0960-8966(00)00157-7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

PubMed publication ID

11166162

1 reference

stated in

Europe PubMed Central

PubMed publication ID

11166162

retrieved

23 April 2018

reference URL

http://europepmc.org/abstract/MED/11166162

 

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