(Q28205032)

ORCID Public Data File 2021

author name string

F de Paula

1

0 references

M Vainzof

2

0 references

A L Bernardino

3

0 references

E McNally

4

0 references

L M Kunkel

American Journal of Medical Genetics Part A

5

0 references

language of work or name

English

0 references

publication date

1 April 2001

0 references

published in

0 references

volume

99

0 references

page(s)

303-7

0 references

issue

4

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Plasmalemmal caveolae and GPI-anchored membrane proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Dissecting the interaction between nitric oxide synthase (NOS) and caveolin. Functional significance of the nos caveolin binding domain in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Caveolae, transmembrane signalling and cellular transformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Caveolin-3 in muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Interaction of neuronal nitric-oxide synthase with caveolin-3 in skeletal muscle. Identification of a novel caveolin scaffolding/inhibitory domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Dystrophin: a sensitive and reliable immunochemical assay in tissue and cell culture homogenates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Immunofluorescence dystrophin study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal region of the protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O

Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%282001%299999%3A9999%3C%3A%3AAID-AJMG1168%3E3.0.CO%3B2-O