A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers
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V. Lennon | Ling T Guo | G. Shelton | L. A. Clark | K. Tsai | A. Palmer | A. N. Starr-Moss | Caitlin J. Rinz | J. Thoreson | H. D. Humphries | F. James | G. Shelton | Vanda A. Lennon | James B. Thoreson | Kate L. Tsai | Anthony C. Palmer | A. Starr-Moss
[1] G. Johnson,et al. A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds , 2015, Acta veterinaria Scandinavica.
[2] S. Sine,et al. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment , 2015, The Lancet Neurology.
[3] Jacqueline Palace,et al. Congenital myasthenic syndromes and the neuromuscular junction. , 2014, Current opinion in neurology.
[4] Ling T Guo,et al. A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome , 2014, PloS one.
[5] A. Engel. Current status of the congenital myasthenic syndromes , 2012, Neuromuscular Disorders.
[6] S. Cirera,et al. Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. , 2007, The Journal of heredity.
[7] G. Shelton,et al. Congenital myasthenia gravis in Smooth-Haired Miniature Dachshund dogs. , 2005, Journal of veterinary internal medicine.
[8] F. Galibert,et al. Chromosome-specific microsatellite multiplex sets for linkage studies in the domestic dog. , 2004, Genomics.
[9] K. Ohno,et al. A frameshifting mutation in CHRNE unmasks skipping of the preceding exon. , 2003, Human Molecular Genetics.
[10] O. Steinlein,et al. Congenital myasthenia in Brahman calves caused by homozygosity for a CHRNE truncating mutation , 2002, Neurogenetics.
[11] B. Eymard,et al. Congenital myasthenic syndromes , 2004, Current opinion in neurology.
[12] M. Hentze,et al. Binary specification of nonsense codons by splicing and cytoplasmic translation , 1998, The EMBO journal.
[13] K. Fischbeck,et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. , 1997, Human molecular genetics.
[14] J. Lindstrom,et al. Canine and human myasthenia gravis autoantibodies recognize similar regions on the acetylcholine receptor , 1988, Neurology.
[15] V. Lennon,et al. Congenital canine myasthenia gravis: I. Deficient junctional acetylcholine receptors , 1984, Muscle & nerve.
[16] V. Lennon,et al. Congenital canine myasthenia gravis: II. Acetylcholine receptor metabolism , 1984, Muscle & nerve.
[17] A. Palmer,et al. Recessive mode of inheritance in myasthenia gravis in the Jack Russell terrier , 1984, Veterinary Record.
[18] R. L. Ott,et al. Congenital myasthenia gravis in 13 smooth fox terriers. , 1983, Journal of the American Veterinary Medical Association.
[19] V. Lennon,et al. Myasthenia gravis in two cats. , 1983, Journal of the American Veterinary Medical Association.
[20] A. Palmer,et al. Congenital myasthenia in the Jack Russell terrier , 1978, The Veterinary Record.
[21] J. Lindstrom,et al. Pathological mechanisms in experimental autoimmune myasthenia gravis. I. Immunogenicity of syngeneic muscle acetylcholine receptor and quantitative extraction of receptor and antibody-receptor complexes from muscles of rats with experimental automimmune myasthenia gravis , 1976, The Journal of experimental medicine.
[22] J. Lindstrom,et al. Experimental autoimmune myasthenia: A model of myasthenia gravis in rats and guinea pigs , 1975, The Journal of experimental medicine.
[23] B. Cooper,et al. Myasthenia in Springer Spaniel littermates. , 1975, The Journal of small animal practice.
[24] A. Palmer,et al. Myasthenia in the dog , 1974, Veterinary Record.
[25] B Katz,et al. The binding of acetylcholine to receptors and its removal from the synaptic cleft , 1973, The Journal of physiology.
[26] J. Patrick,et al. Autoimmune Response to Acetylcholine Receptor , 1973, Science.