repeat expansions - Robuta Search

https://digital.library.adelaide.edu.au/items/7ae21c84-6272-41e4-a7c9-b54177e755bd Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to... Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or... repeat expansions https://pubmed.ncbi.nlm.nih.gov/31332380/ Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal... Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar... repeat expansions cgg neuronal inclusion disease https://blogs.bmj.com/jmg/2018/09/07/long-read-sequencing-identified-intronic-repeat-expansions-in-samd12-from-chinese-pedigrees-affected-with-familial-cortical-myoclonic-tremor-with-epilepsy/ Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees... Feb 24, 2026 - Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal inherited disease mainly characterized by adult-onset cortical myoclonus and... long read sequencing repeat expansions https://pubmed.ncbi.nlm.nih.gov/37525497/ Pathogenesis underlying hexanucleotide repeat expansions in C9orf72 gene in amyotrophic lateral... repeat expansions pathogenesis underlying lateral https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1472907/full Frontiers | A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in RILPL1 BackgroundOculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive ptosis, ophthalmoplegia, dysphagia, dysarthria... https://pubmed.ncbi.nlm.nih.gov/30129428/ STRetch: detecting and discovering pathogenic short tandem repeat expansions Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Most existing tools for detecting STR... stretch detecting discovering pathogenic short https://tobias-lib.ub.uni-tuebingen.de/xmlui/handle/10900/82637 Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies