Nemaline Myopathy: Respiratory Failure

by J Gordon Millichap
Published 1991-03-01

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

by Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm, Robert J. Bryson-Richardson
Published 2018-05-01

Congenital Nemaline Myopathy

by J Gordon Millichap
Published 1994-02-01

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

by Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson
Published 2017-08-01

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

by Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher H. C. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Kelvin Y. K. Chan, Sophelia H. S. Chan, Anita S. Y. Kan, Brian H. Y. Chung
Published 2020-07-01

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease

by Boyang Qiu, Julie Ruston, Henk Granzier, Monica J. Justice, James J. Dowling
Published 2019-09-01

Nemaline Myopathy

by J Gordon Millichap
Published 1988-11-01

Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy

by Lei Tian, Sheng Ding, Yun You, Tong-ruei Li, Yan Liu, Xiaohui Wu, Ling Sun, Tian Xu
Published 2015-06-01

Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function

by Frank Li, Justin Kolb, Julie Crudele, Paola Tonino, Zaynab Hourani, John E. Smith, Jeffrey S. Chamberlain, Henk Granzier
Published 2020-01-01

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

by Masahiro Ohara, Yoshihiko Saito, Mutsufusa Watanabe, Saneyuki Mizutani, Masaki Kobayashi, Aritoshi Iida, Ichizo Nishino, Hiroto Fujigasaki
Published 2020-12-01

Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy

by Joachim Berger, Hakan Tarakci, Silke Berger, Mei Li, Thomas E. Hall, Anders Arner, Peter D. Currie
Published 2014-12-01

Respiratory treatment in a patient with nemaline myopathy

by Massimiliano Polastri, Gioacchino Schifino, Eva Tonveronachi, Francesco Tavalazzi
Published 2019-12-01

α‐tropomyosin gene (TPM3) mutation in an infant with nemaline myopathy

by Sulaiman Almobarak, Jonathan Hu, Kristopher D. Langdon, Lee‐Cyn Ang, Craig Campbell
Published 2021-03-01

Novel mutations in <it>NEB </it>cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

by Lawlor Michael W, Ottenheijm Coen A, Lehtokari Vilma-Lotta, Cho Kiyomi, Pelin Katarina, Wallgren-Pettersson Carina, Granzier Henk, Beggs Alan H
Published 2011-06-01

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

by Lawlor, Michael, Ottenheijm, Coen, Lehtokari, Vilma-Lotta, Cho, Kiyomi, Pelin, Katarina, Wallgren-Pettersson, Carina, Granzier, Henk, Beggs, Alan
Published 2011

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene

by de Winter, J. M., Joureau, B., Sequeira, V., Clarke, N. F., van der Velden, J., Stienen, G. J., Granzier, H., Beggs, A. H., Ottenheijm, C. A.
Published 2015

KLHL41 in skeletal muscle development

by Pak, Jasmine H.
Published 2019

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

by Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs
Published 2004-04-01

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

by Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak
Published 2020-02-01

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

by Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen
Published 2021-06-01