Literature DB >> 11525890

Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands.

C Wallgren-Pettersson1, N G Laing.   

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Year:  2001        PMID: 11525890     DOI: 10.1016/s0960-8966(01)00208-5

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN: 0960-8966            Impact factor:   4.296


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  6 in total

1.  Clinical utility gene card for: nemaline myopathy.

Authors:  Kristen J Nowak; Mark R Davis; Carina Wallgren-Pettersson; Phillipa J Lamont; Nigel G Laing
Journal:  Eur J Hum Genet       Date:  2012-04-18       Impact factor: 4.246

2.  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

3.  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

4.  Clinical heterogeneity in Korean patients with nemaline myopathy.

Authors:  Ji-Man Hong; Seung-Min Kim; Il-Nam Sunwoo; Se-Hoon Kim; Tai-Seung Kim; Dong-Suk Shim; Young-Chul Choi
Journal:  Yonsei Med J       Date:  2010-02-12       Impact factor: 2.759

5.  New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Authors:  Sarah Moreau-Le Lan; Elena Aller; Ines Calabria; Lola Gonzalez-Tarancon; Cristina Cardona-Gay; Marina Martinez-Matilla; Maria J Aparisi; Jorge Selles; Lydia Sagath; Inmaculada Pitarch; Nuria Muelas; Jose V Cervera; Jose M Millan; Laia Pedrola
Journal:  PLoS One       Date:  2018-12-05       Impact factor: 3.240

6.  Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Authors:  Edoardo Malfatti; Vilma-Lotta Lehtokari; Johann Böhm; Josine M De Winter; Ursula Schäffer; Brigitte Estournet; Susana Quijano-Roy; Soledad Monges; Fabiana Lubieniecki; Remi Bellance; Mai Thao Viou; Angéline Madelaine; Bin Wu; Ana Lía Taratuto; Bruno Eymard; Katarina Pelin; Michel Fardeau; Coen A C Ottenheijm; Carina Wallgren-Pettersson; Jocelyn Laporte; Norma B Romero
Journal:  Acta Neuropathol Commun       Date:  2014-04-12       Impact factor: 7.801

  6 in total

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