(Q56022587)

Eleonora Cocco

7

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Maria Giovanna Marrosu

Maria G. Marrosu

13

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Elisabetta Solla

6

Elisabetta Solla

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Nicola Carboni

1

Nicola Carboni

0 references

Anna Mateddu

3

Anna Mateddu

0 references

Giovanni Marrosu

5

Giovanni Marrosu

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Maria C Maioli

10

Maria A. Maioli

0 references

Rachele Piras

11

Rachele Piras

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author name string

Maurizio Porcu

4

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Marco Mura

8

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Stefano Marini

9

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Rinaldo Aste

The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases

12

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publication date

1 April 2011

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published in

Muscle and Nerve

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volume

43

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issue

5

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page(s)

688-693

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cites work

1 reference

Molecular architecture of intermediate filaments

21 January 2018

1 reference

Life at the edge: the nuclear envelope and human disease

21 January 2018

1 reference

Molecular characterization of protein kinase C-alpha binding to lamin A.

21 January 2018

1 reference

Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina

21 January 2018

1 reference

Laminopathies: multisystem dystrophy syndromes

21 January 2018

1 reference

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

21 January 2018

1 reference

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

21 January 2018

1 reference

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

21 January 2018

1 reference

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

1 reference

Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.

21 January 2018

1 reference

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

Improved splice site detection in Genie

21 January 2018

1 reference

Predicting coiled coils from protein sequences

21 January 2018

1 reference

A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction

21 January 2018

1 reference

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

21 January 2018

1 reference

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

21 January 2018

1 reference

Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.

21 January 2018

1 reference