(Q73568744)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

M Nakagawa

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Matsuzaki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M Suehara

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

N Kanzato

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H Takashima

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

I Higuchi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T Matsumura

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

K Goto

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

K Arahata

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

M Osame

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

5 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

184

1 reference

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5 November 2019

issue

1

1 reference

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5 November 2019

page(s)

15-19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

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

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

Autosomal recessive distal dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

Dysferlin is a plasma membrane protein and is expressed early in human development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2800%2900484-6

10.1016/S0022-510X(00)00484-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11231027%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference