Literature DB >> 9321754

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

K N North1, N G Laing, C Wallgren-Pettersson.   

Abstract

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Mesh：

Year:  1997        PMID： 9321754      PMCID： PMC1051052          DOI： 10.1136/jmg.34.9.705

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  92 in total

1.  Changes in motor innervation and histochemical pattern of muscle fibers in some congenital myopathies.

Authors:  C Coërs; N Telerman-Toppet; J M Gérard; H Szliwowski; J Bethlem; G K van Wijngaarden
Journal:  Neurology       Date:  1976-11       Impact factor: 9.910

2.  [Nemaline myopathy. A family suggestive of recessive inheritance (author's transl)].

Authors:  R Pérez-Briceño; G López-Habib; R Lisker; F Velázquez-Forero
Journal:  Rev Invest Clin       Date:  1974 Oct-Dec       Impact factor: 1.451

3.  Fibre type disproportion in the rigid spine syndrome.

Authors:  H H Goebel; H G Lenard; W Görke; K Kunze
Journal:  Neuropadiatrie       Date:  1977-11

4.  Actin filaments form the backbone of nemaline myopathy rods.

Authors:  M Yamaguchi; R M Robson; M H Stromer; D S Dahl; T Oda
Journal:  Nature       Date:  1978-01-19       Impact factor: 49.962

5.  Adult-onset rod disease with abundant intranuclear rods.

Authors:  W Paulus; J Peiffer; I Becker; W Roggendorf; F Schumm
Journal:  J Neurol       Date:  1988-07       Impact factor: 4.849

6.  Human immunodeficiency virus-associated myopathy: analysis of 11 patients.

Authors:  D M Simpson; A N Bender
Journal:  Ann Neurol       Date:  1988-07       Impact factor: 10.422

7.  Investigations on the inheritance of nemaline myopathy.

Authors:  W F Arts; J Bethlem; K P Dingemans; A W Eriksson
Journal:  Arch Neurol       Date:  1978-02

8.  Nemaline myopathy.

Authors:  S M Greenwood; F J Viozzi
Journal:  Arch Pathol Lab Med       Date:  1978-04       Impact factor: 5.534

9.  Congenital nemaline myopathy. A clinical follow-up of twelve patients.

Authors:  C Wallgren-Pettersson
Journal:  J Neurol Sci       Date:  1989-01       Impact factor: 3.181

10.  Normal cardiac contractility in patients with congenital nemaline myopathy.

Authors:  A L Airenne; C Wallgren-Pettersson
Journal:  Neuropediatrics       Date:  1988-08       Impact factor: 1.947
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  56 in total

1.  Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

Authors:  Sylvia L Anderson; Josef Ekstein; Mary C Donnelly; Erin M Keefe; Nicole R Toto; Lauretta A LeVoci; Berish Y Rubin
Journal:  Hum Genet       Date:  2004-06-23       Impact factor: 4.132

2.  Skeletal muscle repair in a mouse model of nemaline myopathy.

Authors:  Despina Sanoudou; Mark A Corbett; Mei Han; Majid Ghoddusi; Mai-Anh T Nguyen; Nicole Vlahovich; Edna C Hardeman; Alan H Beggs
Journal:  Hum Mol Genet       Date:  2006-07-28       Impact factor: 6.150

3.  Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype.

Authors:  Samantha M Rosen; Mugdha Joshi; Talia Hitt; Alan H Beggs; Pankaj B Agrawal
Journal:  Hum Mol Genet       Date:  2020-07-29       Impact factor: 6.150

4.  Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Authors:  Nigel G Laing; Danielle E Dye; Carina Wallgren-Pettersson; Gabriele Richard; Nicole Monnier; Suzanne Lillis; Thomas L Winder; Hanns Lochmüller; Claudio Graziano; Stella Mitrani-Rosenbaum; Darren Twomey; John C Sparrow; Alan H Beggs; Kristen J Nowak
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

5.  New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

Authors:  Daniela Piga; Francesca Magri; Dario Ronchi; Stefania Corti; Denise Cassandrini; Eugenio Mercuri; Giorgio Tasca; Enrico Bertini; Fabiana Fattori; Antonio Toscano; Sonia Messina; Isabella Moroni; Marina Mora; Maurizio Moggio; Irene Colombo; Teresa Giugliano; Marika Pane; Chiara Fiorillo; Adele D'Amico; Claudio Bruno; Vincenzo Nigro; Nereo Bresolin; Giacomo Pietro Comi
Journal:  J Mol Neurosci       Date:  2016-04-22       Impact factor: 3.444

6.  Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.

Authors:  Jennifer Tinklenberg; Hui Meng; Lin Yang; Fujun Liu; Raymond G Hoffmann; Mahua Dasgupta; Kenneth P Allen; Alan H Beggs; Edna C Hardeman; R Scott Pearsall; Robert H Fitts; Michael W Lawlor
Journal:  Am J Pathol       Date:  2016-04-18       Impact factor: 4.307

7.  Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Authors:  Michaela Yuen; Sarah A Sandaradura; James J Dowling; Alla S Kostyukova; Natalia Moroz; Kate G Quinlan; Vilma-Lotta Lehtokari; Gianina Ravenscroft; Emily J Todd; Ozge Ceyhan-Birsoy; David S Gokhin; Jérome Maluenda; Monkol Lek; Flora Nolent; Christopher T Pappas; Stefanie M Novak; Adele D'Amico; Edoardo Malfatti; Brett P Thomas; Stacey B Gabriel; Namrata Gupta; Mark J Daly; Biljana Ilkovski; Peter J Houweling; Ann E Davidson; Lindsay C Swanson; Catherine A Brownstein; Vandana A Gupta; Livija Medne; Patrick Shannon; Nicole Martin; David P Bick; Anders Flisberg; Eva Holmberg; Peter Van den Bergh; Pablo Lapunzina; Leigh B Waddell; Darcée D Sloboda; Enrico Bertini; David Chitayat; William R Telfer; Annie Laquerrière; Carol C Gregorio; Coen A C Ottenheijm; Carsten G Bönnemann; Katarina Pelin; Alan H Beggs; Yukiko K Hayashi; Norma B Romero; Nigel G Laing; Ichizo Nishino; Carina Wallgren-Pettersson; Judith Melki; Velia M Fowler; Daniel G MacArthur; Kathryn N North; Nigel F Clarke
Journal:  J Clin Invest       Date:  2014-09-24       Impact factor: 14.808

8.  Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Authors:  Pankaj B Agrawal; Mugdha Joshi; Nicholas S Marinakis; Klaus Schmitz-Abe; Pedro D S C Ciarlini; Jane C Sargent; Kyriacos Markianos; Umberto De Girolami; David A Chad; Alan H Beggs
Journal:  JAMA Neurol       Date:  2014-11       Impact factor: 18.302

9.  Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.

Authors:  Coen A C Ottenheijm; Danielle Buck; Josine M de Winter; Claudia Ferrara; Nicoletta Piroddi; Chiara Tesi; Jeffrey R Jasper; Fady I Malik; Hui Meng; Ger J M Stienen; Alan H Beggs; Siegfried Labeit; Corrado Poggesi; Michael W Lawlor; Henk Granzier
Journal:  Brain       Date:  2013-05-28       Impact factor: 13.501

10.  Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2).

Authors:  Coen A C Ottenheijm; Pleuni Hooijman; Elizabeth T DeChene; Ger J Stienen; Alan H Beggs; Henk Granzier
Journal:  J Struct Biol       Date:  2009-11-26       Impact factor: 2.867
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