(Q56985820)

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A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

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A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene (English)

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1 reference

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D. Ito

6

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Norihiro Suzuki

object named as

N. Suzuki

series ordinal

7

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author name string

H. Hattori

series ordinal

1

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E. Nagata

series ordinal

2

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Y. Oya

series ordinal

3

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T. Takahashi

series ordinal

4

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M. Aoki

series ordinal

5

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publication date

November 2007

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published in

European Journal of Neurology

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volume

14

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issue

11

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page(s)

1288-1291

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cites work

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

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01958.X

retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01958.X

retrieved

21 January 2018

Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype

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reference URL

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01958.X

retrieved

21 January 2018

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01958.X

retrieved

21 January 2018

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01958.X

retrieved

21 January 2018

Identification of dantrolene binding sites in porcine skeletal muscle sarcoplasmic reticulum.

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Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01958.X

retrieved

21 January 2018

Oral antispastic drugs in nonprogressive neurologic diseases: a systematic review.

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01958.X

retrieved

21 January 2018

Defective membrane repair in dysferlin-deficient muscular dystrophy

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2007.01958.X

retrieved

21 January 2018

Identifiers

DOI

10.1111/J.1468-1331.2007.01958.X

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PubMed ID

17868276

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(Q56985820)

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

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