Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca 2+ -ATPase in myotonic dystrophy type 1

By Kimura Takashi  

Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2189-2200

Oxford University Press

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Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

By Jiang Hong  

Human Molecular Genetics, Vol. 13, Iss. 24, 2004-12 ,pp. : 3079-3088

Oxford University Press

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7 nicotinic acetylcholine receptor mRNA expression and binding in postmortem human brain are associated with genetic variation in neuregulin 1

By Mathew Shiny V.   Law Amanda J.   Lipska Barbara K.   Dvila-Garca Martha I.   Zamora Eduardo D.   Mitkus Shruti N.   Vakkalanka Radhakrishna   Straub Richard E.   Weinberger Daniel R.   Kleinman Joel E.   Hyde Thomas M.  

Human Molecular Genetics, Vol. 16, Iss. 23, 2007-12 ,pp. : 2921-2932

Oxford University Press

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Compound heterozygous myotonic dystrophy type 1

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. : 1952-1953

John Wiley & Sons Inc

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Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients

By Fernandez-Costa Juan M.   Garcia-Lopez Amparo   Zuñiga Sheila   Fernandez-Pedrosa Victoria   Felipo-Benavent Amelia   Mata Manuel   Jaka Oihane   Aiastui Ana   Hernandez-Torres Francisco   Aguado Begoña   Perez-Alonso Manuel   Vilchez Jesus J.   Lopez de Munain Adolfo   Artero Ruben D.  

Human Molecular Genetics, Vol. 22, Iss. 4, 2013-02 ,pp. : 704-716

Oxford University Press

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