Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca V 1.1 calcium channel

By Tang Zhen Zhi   Yarotskyy Viktor   Wei Lan   Sobczak Krzysztof   Nakamori Masayuki   Eichinger Katy   Moxley Richard T.   Dirksen Robert T.   Thornton Charles A.  

Human Molecular Genetics, Vol. 21, Iss. 6, 2012-03 ,pp. : 1312-1324

Oxford University Press

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Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1

By Sergeant N.  

Human Molecular Genetics, Vol. 10, Iss. 19, 2001-09 ,pp. : 2143-2155

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

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

Oxford University Press

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CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1

By Ward Amanda J.   Rimer Mendell   Killian James M.   Dowling James J.   Cooper Thomas A.  

Human Molecular Genetics, Vol. 19, Iss. 18, 2010-09 ,pp. : 3614-3622

Oxford University Press

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The mutation of Pro to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca ATPase (SERCA1) and is associated with Brody disease

By Odermatt Alex   Barton Kimby   Khanna Vijay K.   Mathieu Jean   Escolar Diana   Kuntzer Thierry   Karpati George   MacLennan David H.  

Human Genetics, Vol. 106, Iss. 5, 2000-05 ,pp. : 482-491

Springer Publishing Company

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