Myotonic dystrophy
CA Thornton - Neurologic clinics, 2014 - neurologic.theclinics.com
A population-based screen to determine the genetic frequency of myotonic dystrophy (DM)
is technically feasible but has not yet been performed on a large scale. The most ambitious …
is technically feasible but has not yet been performed on a large scale. The most ambitious …
[HTML][HTML] Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms
Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date …
Targeting nuclear RNA for in vivo correction of myotonic dystrophy
TM Wheeler, AJ Leger, SK Pandey, AR MacLeod… - Nature, 2012 - nature.com
Antisense oligonucleotides (ASOs) hold promise for gene-specific knockdown in diseases
that involve RNA or protein gain-of-function effects. In the hereditary degenerative disease …
that involve RNA or protein gain-of-function effects. In the hereditary degenerative disease …
Trinucleotide repeat disorders
The discovery that expansion of unstable repeats can cause a variety of neurological
disorders has changed the landscape of disease-oriented research for several forms of …
disorders has changed the landscape of disease-oriented research for several forms of …
Microsatellites within genes: structure, function, and evolution
Recently, increasingly more microsatellites, or simple sequence repeats (SSRs) have been
found and characterized within protein-coding genes and their untranslated regions (UTRs) …
found and characterized within protein-coding genes and their untranslated regions (UTRs) …
Pre-mRNA splicing and human disease
NA Faustino, TA Cooper - Genes & development, 2003 - genesdev.cshlp.org
The precision and complexity of intron removal during pre-mRNA splicing still amazes even
26 years after the discovery that the coding information of metazoan genes is interrupted by …
26 years after the discovery that the coding information of metazoan genes is interrupted by …
[图书][B] Myotonic dystrophy
P Harper - 2009 - books.google.com
Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest
inherited muscular dystrophy and has a profound effect on individuals who are diagnosed …
inherited muscular dystrophy and has a profound effect on individuals who are diagnosed …
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
X Lin, JW Miller, A Mankodi, RN Kanadia… - Human molecular …, 2006 - academic.oup.com
In myotonic dystrophy (DM), expression of RNA containing expanded CUG or CCUG
repeats leads to misregulated alternative splicing of pre-mRNA. The repeat-bearing …
repeats leads to misregulated alternative splicing of pre-mRNA. The repeat-bearing …
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
H Jiang, A Mankodi, MS Swanson… - Human molecular …, 2004 - academic.oup.com
Abstract Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the
DMPK gene. In skeletal muscles, DM1 may involve a novel, RNA-dominant disease …
DMPK gene. In skeletal muscles, DM1 may involve a novel, RNA-dominant disease …
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
C Fugier, AF Klein, C Hammer, S Vassilopoulos… - Nature medicine, 2011 - nature.com
Myotonic dystrophy is the most common muscular dystrophy in adults and the first
recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) …
recognized example of an RNA-mediated disease. Congenital myotonic dystrophy (CDM1) …