Literature DB >> 22442437

Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.

R K Jain1, S Jayawant, W Squier, F Muntoni, C A Sewry, A Manzur, R Quinlivan, S Lillis, H Jungbluth, J C Sparrow, G Ravenscroft, K J Nowak, M Memo, S B Marston, N G Laing.   

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Year:  2012        PMID： 22442437     DOI： 10.1212/WNL.0b013e31824e8ebe

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  22 in total

1.  Clinical utility gene card for: Nemaline myopathy - update 2015.

Authors:  Kristen J Nowak; Mark R Davis; Carina Wallgren-Pettersson; Phillipa J Lamont; Nigel G Laing
Journal:  Eur J Hum Genet       Date:  2015-02-25       Impact factor: 4.246

Review 2.  The actin 'A-triad's' role in contractile regulation in health and disease.

Authors:  William Schmidt; Anthony Cammarato
Journal:  J Physiol       Date:  2019-03-28       Impact factor: 5.182

Review 3.  Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Authors:  Gianina Ravenscroft; Nigel G Laing; Carsten G Bönnemann
Journal:  Brain       Date:  2014-12-31       Impact factor: 13.501

4.  Structure of the F-actin-tropomyosin complex.

Authors:  Julian von der Ecken; Mirco Müller; William Lehman; Dietmar J Manstein; Pawel A Penczek; Stefan Raunser
Journal:  Nature       Date:  2014-12-01       Impact factor: 49.962

5.  Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.

Authors:  Massimiliano Memo; Steven Marston
Journal:  J Muscle Res Cell Motil       Date:  2013-05-30       Impact factor: 2.698

6.  Synthesis and Evaluation of 4-Hydroxycoumarin Imines as Inhibitors of Class II Myosins.

Authors:  Jhonnathan Brawley; Emily Etter; Dante Heredia; Amarawan Intasiri; Kyle Nennecker; Joshua Smith; Brandon M Welcome; Richard K Brizendine; Thomas W Gould; Thomas W Bell; Christine Cremo
Journal:  J Med Chem       Date:  2020-09-18       Impact factor: 7.446

7.  Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.

Authors:  Steven Marston; Massimiliano Memo; Andrew Messer; Maria Papadaki; Kristen Nowak; Elyshia McNamara; Royston Ong; Mohammed El-Mezgueldi; Xiaochuan Li; William Lehman
Journal:  Hum Mol Genet       Date:  2013-07-25       Impact factor: 6.150

Review 8.  Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Authors:  Heinz Jungbluth; Susan Treves; Francesco Zorzato; Anna Sarkozy; Julien Ochala; Caroline Sewry; Rahul Phadke; Mathias Gautel; Francesco Muntoni
Journal:  Nat Rev Neurol       Date:  2018-02-02       Impact factor: 42.937

9.  TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Authors:  M Papadaki; J M de Winter; M B Neu; S Donkervoort; J Kirschner; V Bolduc; M L Yang; M A Gibbons; Y Hu; J Dastgir; M E Leach; A Rutkowski; A R Foley; M Krüger; E P Wartchow; E McNamara; R Ong; K J Nowak; N G Laing; N F Clarke; Cac Ottenheijm; S B Marston; C G Bönnemann
Journal:  Ann Neurol       Date:  2015-11-13       Impact factor: 10.422

Review 10.  Molecular and cellular basis of genetically inherited skeletal muscle disorders.

Authors:  James J Dowling; Conrad C Weihl; Melissa J Spencer
Journal:  Nat Rev Mol Cell Biol       Date:  2021-07-13       Impact factor: 94.444
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