Carina Wallgren‐Pettersson

Research interests

Publications

• Nemaline myopathies: a current view

  Journal of Muscle Research and Cell Motility · 2019 · 10.1007/s10974-019-09519-9

• Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

  Journal of Clinical Investigation · 2014 · 10.1172/jci75199

• Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

  The American Journal of Human Genetics · 2013 · 10.1016/j.ajhg.2013.10.020

• Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

  The American Journal of Human Genetics · 2013 · 10.1016/j.ajhg.2013.05.004

• Mutations and polymorphisms of the skeletal muscle α-actin gene ( ACTA1 )

  Human Mutation · 2009 · 10.1002/humu.21059

• Centronuclear (myotubular) myopathy

  Orphanet Journal of Rare Diseases · 2008 · https://doi.org/10.1186/1750-1172-3-26

• Distal myopathy caused by homozygous missense mutations in the nebulin gene

  Brain · 2007 · https://doi.org/10.1093/brain/awm094

• Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

  Nature Genetics · 2007 · https://doi.org/10.1038/ng2086

• Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

  Nature Genetics · 2007 · https://doi.org/10.1038/ng2086

• Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin–Binding Protein, Cofilin-2

  The American Journal of Human Genetics · 2006 · 10.1086/510402

• 117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands

  Neuromuscular Disorders · 2003 · 10.1016/j.nmd.2003.09.003

• Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1)

  Neuromuscular Disorders · 2003 · 10.1016/s0960-8966(03)00101-9

• Genotype–phenotype correlations in X-linked myotubular myopathy

  Neuromuscular Disorders · 2002 · 10.1016/s0960-8966(02)00153-0

• Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

  Neuromuscular Disorders · 2002 · 10.1016/s0960-8966(01)00252-8

• MTM1 mutations in X-linked myotubular myopathy

  Human Mutation · 2000 · 10.1002/(sici)1098-1004(200005)15:5<393::aid-humu1>3.0.co;2-r

• Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

  Nature Genetics · 1999 · https://doi.org/10.1038/13837

• Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

  Proceedings of the National Academy of Sciences · 1999 · https://doi.org/10.1073/pnas.96.5.2305

• Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.

  Journal of Medical Genetics · 1997 · 10.1136/jmg.34.9.705

Current projects

No projects listed.