(Q28207504)

14

0 references

Olli Carpén

7

0 references

Mariz Vainzof

object named as

Mariz Vainzof

1

0 references

Alan H. Beggs

object named as

Alan H Beggs

6

0 references

Maria Rita Passos-Bueno

13

object named as

Maria Rita Passos-Bueno

0 references

author name string

Eloisa S Moreira

2

0 references

Oscar T Suzuki

3

0 references

Georgine Faulkner

4

0 references

Georgio Valle

5

0 references

Alberto F Ribeiro

8

0 references

Edmar Zanoteli

9

0 references

Juliana Gurgel-Gianneti

10

0 references

Ana Maria Tsanaclis

11

0 references

Helga C A Silva

Biochimica et Biophysica Acta

12

0 references

language of work or name

English

0 references

publication date

9 October 2002

0 references

published in

0 references

volume

1588

0 references

page(s)

33-40

0 references

issue

1

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Myotilin is mutated in limb girdle muscular dystrophy 1A

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Caveolin-3 in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Calpainopathy-a survey of mutations and polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Sarcoglycans in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Molecular basis of muscular dystrophies.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Telethonin, a novel sarcomeric protein of heart and skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Structural basis for activation of the titin kinase domain during myofibrillogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Human skeletal muscle fibres: molecular and functional diversity

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

The novel sarcomeric protein telethonin exhibits developmental and functional regulation

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2802%2900113-8

7 January 2021