(Q28209824)

1

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author name string

Miina Ollikainen

2

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Maaret Ridanpää

3

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Hans-Jürgen Christen

4

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Hans H Goebel

5

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Katarina Pelin

7

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Carina Wallgren-Pettersson

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

8

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language of work or name

English

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publication date

February 2002

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published in

Neuromuscular Disorders

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volume

12

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issue

2

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page(s)

151-8

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

1 reference

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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%2801%2900252-8

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%2801%2900252-8

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%2FS0960-8966%2801%2900252-8

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%2FS0960-8966%2801%2900252-8

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%2801%2900252-8

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%2FS0960-8966%2801%2900252-8

7 January 2021

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Fine mapping of five human skeletal muscle genes: alpha-tropomyosin, beta-tropomyosin, troponin-I slow-twitch, troponin-I fast-twitch, and troponin-C fast

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13.

1 reference

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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%2801%2900252-8

7 January 2021

Functional properties of non-muscle tropomyosin isoforms

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Tropomyosin isoforms in nonmuscle cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

The molecular basis for tropomyosin isoform diversity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Differential control of tropomyosin mRNA levels during myogenesis suggests the existence of an isoform competition-autoregulatory compensation control mechanism

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Control of muscle contraction

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Cooperative binding of myosin subfragment-1 to the actin-troponin-tropomyosin complex

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

The troponin complex and regulation of muscle contraction

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Alteration of tropomyosin function and folding by a nemaline myopathy-causing mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

Tropomyosin 3 increases striated muscle isoform diversity.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

The stability of tropomyosin, a two-stranded coiled-coil protein, is primarily a function of the hydrophobicity of residues at the helix-helix interface.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2801%2900252-8

7 January 2021