RM Duff, V Tay, P Hackman… - American journal of …, 2011 - ncbi.nlm.nih.gov Linkage analysis of the dominant distal myopathy we previously identified in a large Australian family demonstrated one significant linkage region located on chromosome 7 and encompassing 18.6 Mbp and 151 genes. The strongest candidate gene was FLNC because filamin C, ...
N Liu, S Bezprozvannaya, JM Shelton… - J Clin …, 2011 - Am Soc Clin Investig 1 Department of Molecular Biology and 2 Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA. 3 Department of Human Nutrition, Foods and Exercise, Virginia Tech University, Blacksburg, Virginia, USA. ... Address correspondence to: Ning ... Related articles - All 4 versions
AL Mammen, T Chung… - Arthritis & …, 2011 - Wiley Online Library Statin exposure induced expression of the ∼200-kd/∼100-kd autoantigens in cultured cells. HMGCR was identified as the ∼100-kd autoantigen. Competition experiments demonstrated no distinct autoantibodies recognizing the ∼200-kd protein. In muscle biopsy tissues from ... Cited by 3 - Related articles - All 4 versions
[HTML] from plos.orgC Labelle-Dumais, DJ Dilworth, EP Harrington… - PLoS genetics, 2011 - dx.plos.org Muscle-eye-brain disease (MEB) and Walker-Warburg Syndrome (WWS) are devastating childhood diseases that belong to a subgroup of congenital muscular dystrophies (CMDs) characterized by ocular dysgenesis, neuronal migration defects, and congenital myopathy. Genetic ... Related articles - Cached - All 3 versions
RB Yaou, C Navarro, S Quijano-Roy… - European Journal of …, 2011 - nature.com Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as the lethal neonatal restrictive dermopathy syndrome. Phenotype severity is correlated with the residual enzyme activity ... Related articles - All 4 versions
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