Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy (Q58185608)

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29 December 2019

title

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy (English)

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29 December 2019

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Vilma-Lotta Lehtokari

1

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29 December 2019

Katarina Pelin

2

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Kati Donner

5

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29 December 2019

Corrado Angelini

8

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Nigel G Laing

12

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11

Susan Iannaccone

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29 December 2019

author name string

Maria Sandbacka

3

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Salla Ranta

4

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29 December 2019

Francesco Muntoni

6

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29 December 2019

Caroline Sewry

7

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Kate Bushby

9

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Peter Van den Bergh

10

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Carina Wallgren-Pettersson

13

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publication date

1 September 2006

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29 December 2019

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29 December 2019

volume

27

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29 December 2019

issue

9

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29 December 2019

page(s)

946-956

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Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies

1 reference

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7 January 2021

Molecular dissection of the interaction of desmin with the C-terminal region of nebulin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

The complete mouse nebulin gene sequence and the identification of cardiac nebulin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Nebulin regulates the assembly and lengths of the thin filaments in striated muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

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/10.1002%2FHUMU.20370

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/10.1002%2FHUMU.20370

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Nebulin mutations in autosomal recessive nemaline myopathy: an update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Correlation Between Conformational and Binding Properties of Nebulin Repeats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

The SH3 domain of nebulin binds selectively to type II peptides: theoretical prediction and experimental validation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Genetics of congenital nemaline myopathy: a study of 10 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Human skeletal muscle nebulin sequence encodes a blueprint for thin filament architecture. Sequence motifs and affinity profiles of tandem repeats and terminal SH3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20370

7 January 2021

Identifiers

DOI

10.1002/HUMU.20370

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29 December 2019

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