(Q58185622)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257471%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Nebulin expression in patients with nemaline myopathy (English)

1 reference

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5 November 2019

1 reference

3

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5 November 2019

Kati Donner

5

1 reference

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5 November 2019

Suely K Marie

6

1 reference

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5 November 2019

Mariz Vainzof

14

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5 November 2019

author name string

J Gurgel-Giannetti

1

1 reference

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5 November 2019

U Reed

2

1 reference

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5 November 2019

K Pelin

4

1 reference

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5 November 2019

M Carvalho

7

1 reference

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5 November 2019

M A Fireman

8

1 reference

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5 November 2019

E Zanoteli

9

1 reference

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5 November 2019

A S Oliveira

10

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5 November 2019

M Zatz

11

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5 November 2019

C Wallgren-Pettersson

12

1 reference

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5 November 2019

S Labeit

13

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5 November 2019

publication date

1 March 2001

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5 November 2019

published in

Neuromuscular Disorders

1 reference

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5 November 2019

volume

11

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5 November 2019

issue

2

1 reference

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5 November 2019

page(s)

154-162

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Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Congenital myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Pathology of congenital nemaline myopathy. A follow-up study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

40th ENMC Sponsored International Workshop: Nemaline Myopathy. 2-4 February 1996, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Progression in nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Early fatal nemaline myopathy: case report and review.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Fatal nemaline myopathy in infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Nemaline myopathy in the neonate

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

The spectrum of rod myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Nemaline myopathy. Report of four cases and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Genetics of congenital nemaline myopathy: a study of 10 families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

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%2FS0960-8966%2800%2900177-2

7 January 2021

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Genetics of the nemaline myopathies and the myotubular myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

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%2FS0960-8966%2800%2900177-2

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%2FS0960-8966%2800%2900177-2

7 January 2021

The organization of titin filaments in the half-sarcomere revealed by monoclonal antibodies in immunoelectron microscopy: a map of ten nonrepetitive epitopes starting at the Z line extends close to the M line

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

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%2FS0960-8966%2800%2900177-2

7 January 2021

Architecture of the sarcomere matrix of skeletal muscle: immunoelectron microscopic evidence that suggests a set of parallel inextensible nebulin filaments anchored at the Z line

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

The complete primary structure of human nebulin and its correlation to muscle structure

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

The role of immunocytochemistry in congenital myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

Actin filaments form the backbone of nemaline myopathy rods

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2800%2900177-2

7 January 2021

10.1016/S0960-8966(00)00177-2

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11257471%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference