Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood.
Nature (2011)
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy
Kristen J. Nowak;Kristen J. Nowak;Duangrurdee Wattanasirichaigoon;Hans H. Goebel;Matthew Wilce.
Nature Genetics (1999)
Mutations in amphiphysin 2 ( BIN1 ) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Anne-Sophie Nicot;Anne Toussaint;Valérie Tosch;Christine Kretz.
Nature Genetics (2007)
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
Katarina Pelin;Pirta Hilpelä;Kati Donner;Caroline Sewry.
Proceedings of the National Academy of Sciences of the United States of America (1999)
Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy
Kati Donner;Miina Ollikainen;Maaret Ridanpää;Hans-Jürgen Christen.
Neuromuscular Disorders (2002)
Centronuclear (myotubular) myopathy
Heinz Jungbluth;Heinz Jungbluth;Carina Wallgren-Pettersson;Jocelyn Laporte.
Orphanet Journal of Rare Diseases (2008)
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
Pankaj B. Agrawal;Rebecca S. Greenleaf;Kinga K. Tomczak;Vilma-Lotta Lehtokari.
American Journal of Human Genetics (2007)
Approach to the diagnosis of congenital myopathies
Kathryn N. North;Kathryn N. North;Ching H. Wang;Nigel Clarke;Heinz Jungbluth;Heinz Jungbluth.
Neuromuscular Disorders (2014)
MTM1 mutations in X-linked myotubular myopathy
Jocelyn Laporte;Valérie Biancalana;Stephan M. Tanner;Wolfram Kress.
Human Mutation (2000)
The congenital myopathies
Carina Wallgren-Pettersson;Nigel G. Laing.
(2010)
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University of Western Australia
King's College London
Harvard Medical School
University of Melbourne
University College London
Great Ormond Street Hospital
University of Helsinki
Bambino Gesù Children's Hospital
Institute of Genetics and Molecular and Cellular Biology
Broad Institute
University of Florida
Luleå University of Technology
McGill University
Jiangxi Science and Technology Normal University
University of Sheffield
Panasonic (Japan)
Aarhus University
Texas Tech University Health Sciences Center
Panjab University
Utrecht University
National Institute for Space Research
Mayo Clinic
Charité - University Medicine Berlin
University of Alberta
New York University
University of Hertfordshire