Results 31 to 40 of about 1,270,049 (189)
The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. [PDF]
PLoS ONE, 2012 Myotonic dystrophy type 2 (DM2) is a subtype of the myotonic dystrophies, caused by expansion of a tetranucleotide CCTG repeat in intron 1 of the zinc finger protein 9 (ZNF9) gene.
Tatsuaki Kurosaki +5 more
doaj +1 more source
Neurocognitive Disorder in Myotonic Dystrophy Type 1
Heliyon, 2023 Cognitive deficits and abnormal cognitive aging have been associated with Myotonic dystrophy type 1 (DM1), but the knowledge of the extent and progression of decline is limited. The aim of this study was to examine the prevalence of signs of neurocognitive disorder (mild cognitive impairment and dementia) in adult patients with DM1.
Stefan Winblad +3 more
openaire +3 more sources
The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, 2021 Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller +4 more
doaj +1 more source
Pharmaceutics, 2023 Nucleic acid therapeutics, specifically antisense oligonucleotides (ASOs), can effectively modulate gene expression and protein function, leading to long-lasting curative effects.
Raghav Gupta +6 more
doaj +1 more source
Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2
European Journal of Histochemistry, 2009 Myotonic dystrophies (DM) are repeat expansion diseases in which expanded CTG (DM1) and CCTG (DM2) repeats cause the disease. Mutant transcripts containing CUG/CCUG repeats are retained in muscle nuclei producing ribonuclear inclusions, which can bind ...
R Cardani +4 more
doaj +1 more source
, 2010 Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes
Mankodi, Ami
core +1 more source
Frontiers in Neurology, 2020 Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
doaj +1 more source
Annals of Neurology, EarlyView.Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato +7 more
wiley +1 more source
Cytoskeleton, EarlyView.ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
Myotonic Disorders in an EMG Lab Over 12 Years
Pediatric Neurology Briefs, 2012 Researchers at the EMG Laboratory, Boston Children's Hospital, MA assessed the spectrum of disorders associated with electrophysiologic myotonia in a pediatric electromyography laboratory.
J Gordon Millichap
doaj +1 more source