Literature DB >> 10838258

Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands.

C Wallgren-Pettersson1, N G Laing.   

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Year:  2000        PMID： 10838258     DOI： 10.1016/s0960-8966(99)00129-7

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


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  29 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.  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

3.  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

4.  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

5.  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

6.  Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.

Authors:  Satoko Miyatake; Satomi Mitsuhashi; Yukiko K Hayashi; Enkhsaikhan Purevjav; Atsuko Nishikawa; Eriko Koshimizu; Mikiya Suzuki; Kana Yatabe; Yuzo Tanaka; Katsuhisa Ogata; Satoshi Kuru; Masaaki Shiina; Yoshinori Tsurusaki; Mitsuko Nakashima; Takeshi Mizuguchi; Noriko Miyake; Hirotomo Saitsu; Kazuhiro Ogata; Mitsuru Kawai; Jeffrey Towbin; Ikuya Nonaka; Ichizo Nishino; Naomichi Matsumoto
Journal:  Am J Hum Genet       Date:  2016-12-22       Impact factor: 11.025

7.  Inspiratory muscle training in a child with nemaline myopathy and organ transplantation.

Authors:  Barbara K Smith; Mark S Bleiweis; Joni Zauhar; A Daniel Martin
Journal:  Pediatr Crit Care Med       Date:  2011-03       Impact factor: 3.624

Review 8.  Congenital myopathies.

Authors:  Claudio Bruno; Carlo Minetti
Journal:  Curr Neurol Neurosci Rep       Date:  2004-01       Impact factor: 5.081

9.  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

Review 10.  Congenital myopathies.

Authors:  Adele D'Amico; Enrico Bertini
Journal:  Curr Neurol Neurosci Rep       Date:  2008-01       Impact factor: 5.081
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