(Q58185601)

Vilma-Lotta Lehtokari

1

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Katarina Pelin

Katarina Pelin

2

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Nigel G Laing

Nigel G Laing

9

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Haluk Topaloglu

8

Haluk Topaloglu

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author name string

Thomas Voit

4

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Sabine Rudnik-Schöneborn

5

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Mechthild Stoetter

6

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Beril Talim

7

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Carina Wallgren-Pettersson

European Journal of Human Genetics

10

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publication date

2 April 2008

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published in

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volume

16

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issue

9

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page(s)

1055-1061

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exact match

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.60

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cites work

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

Coiled coils: new structures and new functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

A De Novo Mutation in α-Tropomyosin That Causes Hypertrophic Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

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/10.1038%2FEJHG.2008.60

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

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/10.1038%2FEJHG.2008.60

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

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/10.1038%2FEJHG.2008.60

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Coiled-coils in alpha-helix-containing proteins: analysis of the residue types within the heptad repeat and the use of these data in the prediction of coiled-coils in other proteins

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Predicting coiled coils from protein sequences

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

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/10.1038%2FEJHG.2008.60

7 January 2021

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Splicing of two internal and four carboxyl-terminal alternative exons in nonmuscle tropomyosin 5 pre-mRNA is independently regulated during development

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Actin dynamics: tropomyosin provides stability

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Regulation of contraction in striated muscle

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Functional properties of non-muscle tropomyosin isoforms

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Tropomyosin isoform diversity and neuronal morphogenesis.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Multiple combinations of alternatively spliced exons in rat tropomyosin-alpha gene mRNA: evidence for 20 new isoforms in adult tissues and cultured cells

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Tropomyosin isoforms: divining rods for actin cytoskeleton function

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

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/10.1038%2FEJHG.2008.60

7 January 2021

Solution NMR structure of the junction between tropomyosin molecules: implications for actin binding and regulation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Ectopic expression and dynamics of TPM1alpha and TPM1kappa in myofibrils of avian myotubes.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021

Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.60

7 January 2021