• Research

  • Research

  • Research

  • Research

  • Research

Our goal is to find treatment by funding targeted research and support studies that pave the way for regulatory approval.

Active Research Studies
Factors That Rescue Nebulin-Knockout Mice
Siegfried Labeit, MD, PhD
Nebulin-NM Mechanisms and Treatment
Henk Grenzier, PhD
Safety and Efficacy Clinical Trial of Exercise in Patients with NM
Jahannaz Dastgir, DO
Myofiblar Mechanics to Investigate Muscle Weakness in NM
Coen Ottenheijm, PhD
ACTA1 NM Therapeutic Approaches
Kristen Nowak, PhD
Gene Therapy for Nebulin-Based NM
Henk Grenzier, PhD,
Jeff Chamberlain, PhD

Published Research We’ve Funded

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

Josine Marieke de Winter, Danielle Buck, Carlos Hidalgo, Jeffrey R. Jasper, Fady I. Malik, Nigel F. Clarke, Ger J. M. Stienen, Michael W. Lawlor, Alan H. Beggs, Coen A. C. Ottenheijm, and Henk Granzier

J Med Genet. Author manuscript; available in PMC 2014 Jun 1. Published online 2013 Apr 9. doi:10.1136/jmedgenet-2012-101470 PMCID: PMC3865762 NIHMSID: NIHMS535765

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

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, and Henk Granzier corresponding author

Brain. 2013 Jun; 136(6): 1718–1731. Published online 2013 May 28. doi: 0.1093/brain/awt113 PMCID: PMC3673460

Fast Skeletal Muscle Troponin Activation Increases Force of Mouse Fast Skeletal Muscle and Ameliorates Weakness Due to Nebulin Deficiency

Eun-Jeong Lee, Josine M. De Winter , Danielle Buck, Jeffrey R. Jasper, Fady I. Malik, Siegfried Labeit, Coen A. Ottenheijm, Henk Granzier

PLOS ONE · FEBRUARY 2013 Impact Factor: 3.53 · DOI: 0.1371/journal.pone.0055861 Source:PubMed

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

Nancy Mokbel, Biljana Ilkovski, Michaela Kreissl, Massimiliano Memo, Cy M. Jeffries, Minttu Marttila, Vilma-Lotta Lehtokari, Elina Lemola, Mikaela Gronholm, Nan Yang, Dominique Menard, Pascale Marcorelles, Andoni Echaniz-Laguna, Jens Reimann, Mariz Vainzof, Nicole Monnier, Gianina Ravenscroft, Elyshia McNamara, Kristen J. Nowak, Nigel G. Laing, Carina Wallgren-Pettersson, Jill Trewhella, Steve Marston, Coen Ottenheijm, Kathryn N. North, and Nigel F. Clarke

Brain 2013: Page 1 of 14


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