(Q51705416)

10 April 2018

title

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

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10 April 2018

Kati Donner

2

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Martin Lammens

object named as

Martin Lammens

5

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author name string

Carina Wallgren-Pettersson

1

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10 April 2018

Caroline Sewry

3

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10 April 2018

Emilia Bijlsma

4

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10 April 2018

Kate Bushby

6

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10 April 2018

Maria Luisa Giovannucci Uzielli

7

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10 April 2018

Elisabetta Lapi

8

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10 April 2018

Sylvie Odent

9

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10 April 2018

Zuhal Akcoren

10

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10 April 2018

Haluk Topaloğlu

11

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10 April 2018

Katarina Pelin

12

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10 April 2018

publication date

1 October 2002

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10 April 2018

published in

Neuromuscular Disorders

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10 April 2018

volume

12

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10 April 2018

issue

7-8

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10 April 2018

page(s)

674-679

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10 April 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

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/10.1016%2FS0960-8966%2802%2900065-2

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%2802%2900065-2

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%2802%2900065-2

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%2802%2900065-2

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%2802%2900065-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

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%2802%2900065-2

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%2FS0960-8966%2802%2900065-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

Fetal akinesia sequence caused by nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

Nebulin expression in patients with nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

Sequential appearance of muscle-specific proteins in myoblasts as a function of time after cell division: evidence for a conserved myoblast differentiation program in skeletal muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

SH3 in muscles: solution structure of the SH3 domain from nebulin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

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%2802%2900065-2

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%2802%2900065-2

7 January 2021

Distinct families of Z-line targeting modules in the COOH-terminal region of nebulin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

A sarcomeric alpha-actinin truncated at the carboxyl end induces the breakdown of stress fibers in PtK2 cells and the formation of nemaline-like bodies and breakdown of myofibrils in myotubes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

Genetics of congenital nemaline myopathy: a study of 10 families

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

Investigations on the Inheritance of Nemaline Myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900065-2

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/10.1016%2FS0960-8966%2802%2900065-2

7 January 2021

10.1016/S0960-8966(02)00065-2

Identifiers

DOI

1 reference

10 April 2018

1 reference

10 April 2018