[HTML][HTML] Identification and characterization of repeat expansions in neurological disorders: Methodologies, tools, and strategies
E Leitão, C Schröder, C Depienne - Revue Neurologique, 2024 - Elsevier
Tandem repeats are a common, highly polymorphic class of variation in human genomes.
Their expansion beyond a pathogenic threshold is a process that contributes to a wide …
Their expansion beyond a pathogenic threshold is a process that contributes to a wide …
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis
Nucleotide repeat expansions in the human genome are a well-known cause of
neurological disease. In the past decade, advances in DNA sequencing technologies have …
neurological disease. In the past decade, advances in DNA sequencing technologies have …
Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus
X Chen, F Zhang, Y Shi, H Wang, M Chen… - European Journal of …, 2024 - nature.com
Familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) is caused by (TTTTA) exp
(TTTCA) exp repeat expansions in SAMD12, while pure (TTTTA) exp is polymorphic. Our …
(TTTCA) exp repeat expansions in SAMD12, while pure (TTTTA) exp is polymorphic. Our …