Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing
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Adam Ameur | Lars Feuk | L. Feuk | A. Ameur | A. Johansson | K. Mäbert | N. Dahl | A. Melberg | M. Sobol | Niklas Dahl | J. Klar | Joakim Klar | O. Casar-Borota | Maria Sobol | Atle Melberg | Katrin Mäbert | Anna C.V. Johansson | Miriam Entesarian | Hanna Örlén | Olivera Casar‐Borota | M. Entesarian | H. Örlén | Hanna Örlén
[1] B. Udd. Distal myopathies – New genetic entities expand diagnostic challenge , 2012, Neuromuscular Disorders.
[2] L. Welander. Myopathia distalis tarda hereditaria; 249 examined cases in 72 pedigrees. , 1951, Acta medica Scandinavica. Supplementum.
[3] J. Jenkins,et al. Three RNA recognition motifs participate in RNA recognition and structural organization by the pro-apoptotic factor TIA-1. , 2012, Journal of molecular biology.
[4] E. Kuusisto,et al. Use of p62/SQSTM1 antibodies for neuropathological diagnosis , 2008, Neuropathology and applied neurobiology.
[5] M. Boehnke,et al. Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes. , 1994, American journal of human genetics.
[6] A. Chapelle,et al. Disease gene mapping in isolated human populations: the example of Finland. , 1993, Journal of medical genetics.
[7] E. Lander,et al. ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF , 2000, Nature Genetics.
[8] Eric S. Lander,et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping , 1994, Cell.
[9] C. Bruder,et al. Refined mapping of the Welander distal myopathy region on chromosome 2p13 positions the new candidate region telomeric of the DYSF locus , 2003, Neurogenetics.
[10] C. Damgaard,et al. Translational coregulation of 5'TOP mRNAs by TIA-1 and TIAR. , 2011, Genes & development.
[11] R. Zechner,et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. , 2009, American journal of human genetics.
[12] E. Ottesen,et al. TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy , 2010, Molecular and Cellular Biology.
[13] C. Lorson,et al. Spinal muscular atrophy: mechanisms and therapeutic strategies. , 2010, Human molecular genetics.
[14] Pieter J. de Jong,et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy , 1998, Nature Genetics.
[15] G. Rouleau,et al. TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1. , 2011, Human molecular genetics.
[16] D. Baralle,et al. Novel roles of U1 snRNP in alternative splicing regulation , 2010, RNA biology.
[17] L. Edström,et al. Welander distal myopathy outside the Swedish population: phenotype and genotype , 2002, Neuromuscular Disorders.
[18] W. Engel,et al. In sporadic inclusion body myositis muscle fibres TDP‐43‐positive inclusions are less frequent and robust than p62 inclusions, and are not associated with paired helical filaments , 2011, Neuropathology and applied neurobiology.
[19] A. Hedström,et al. Inclusion body myositis and welander distal myopathy: a clinical, neurophysiological and morphological comparison , 1991, Journal of the Neurological Sciences.
[20] K. Duff,et al. Contrasting Pathology of the Stress Granule Proteins TIA-1 and G3BP in Tauopathies , 2012, The Journal of Neuroscience.
[21] W. Seeger,et al. TIAR and TIA-1 mRNA-binding proteins co-aggregate under conditions of rapid oxygen decline and extreme hypoxia and suppress the HIF-1α pathway. , 2010, Journal of molecular cell biology.
[22] M. Komatsu,et al. Physiological significance of selective degradation of p62 by autophagy , 2010, FEBS letters.
[23] Bjarne Udd,et al. Welander distal myopathy is caused by a mutation in the RNA‐binding protein TIA1 , 2013, Annals of neurology.
[24] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[25] L. Edström,et al. Genetic linkage of Welander distal myopathy to chromosome 2p13 , 1999, Annals of neurology.
[26] R. Griggs. Overview of distal myopathies: from the clinical to the molecular , 1997, Neuromuscular Disorders.
[27] P. Anderson,et al. RNA granules: post-transcriptional and epigenetic modulators of gene expression , 2009, Nature Reviews Molecular Cell Biology.
[28] J. Lykke-Andersen,et al. Cytoplasmic mRNP granules at a glance , 2011, Journal of Cell Science.