(Q77931827)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

editorial

0 references

title

Counting muscular dystrophies in the post-molecular census (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

E P Hoffman

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

publication date

1 March 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

9 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

164

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

3-6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

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%2899%2900039-8

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Myotonic dystrophy: molecular windows on a complex etiology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Dystrophinopathy in isolated cases of myopathy in females

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Genetic mapping of a second myotonic dystrophy locus.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Mutations in the sarcoglycan genes in patients with myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2899%2900039-8

10.1016/S0022-510X(99)00039-8

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10385040%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference