The myotonic dystrophies: molecular, clinical, and therapeutic challenges
B Udd, R Krahe - The Lancet Neurology, 2012 - thelancet.com
Myotonic dystrophy is the most common type of muscular dystrophy in adults and is
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …
characterised by progressive myopathy, myotonia, and multiorgan involvement. Two …
[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 …
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
CL Liquori, K Ricker, ML Moseley, JF Jacobsen… - Science, 2001 - science.org
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be
caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is …
caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is …
[HTML][HTML] Recruitment of human muscleblind proteins to (CUG) n expansions associated with myotonic dystrophy
JW Miller, CR Urbinati, P Teng‐umnuay… - The EMBO …, 2000 - embopress.org
Myotonic dystrophy (DM1) is an autosomal dominant neuromuscular disorder associated
with a (CTG) n expansion in the 3′‐untranslated region of the DM1 protein kinase (DMPK) …
with a (CTG) n expansion in the 3′‐untranslated region of the DM1 protein kinase (DMPK) …
[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 …
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
Large expansions of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene
are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal …
are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal …
Repeat expansion disease: progress and puzzles in disease pathogenesis
AR La Spada, JP Taylor - Nature Reviews Genetics, 2010 - nature.com
Repeat expansion mutations cause at least 22 inherited neurological diseases. The
complexity of repeat disease genetics and pathobiology has revealed unexpected shared …
complexity of repeat disease genetics and pathobiology has revealed unexpected shared …
Diseases of unstable repeat expansion: mechanisms and common principles
JR Gatchel, HY Zoghbi - Nature Reviews Genetics, 2005 - nature.com
The list of developmental and degenerative diseases that are caused by expansion of
unstable repeats continues to grow, and is now approaching 20 disorders. The pathogenic …
unstable repeats continues to grow, and is now approaching 20 disorders. The pathogenic …
A systematic review and meta-analysis on the epidemiology of the muscular dystrophies
JK Mah, L Korngut, KM Fiest, J Dykeman… - Canadian Journal of …, 2016 - cambridge.org
Background: The muscular dystrophies are a heterogeneous group of genetic muscle
diseases with variable distribution of weakness and mode of inheritance. Methods: We …
diseases with variable distribution of weakness and mode of inheritance. Methods: We …
Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum
JW Day, K Ricker, JF Jacobsen, LJ Rasmussen… - Neurology, 2003 - AAN Enterprises
Background: Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy
PROMM) are dominantly inherited disorders with unusual multisystemic clinical features …
PROMM) are dominantly inherited disorders with unusual multisystemic clinical features …