ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-9141-z
Abstract: Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive spastic ataxia variably associated with motor neuron involvement, epilepsy,… read more here.
Keywords: phenotype; screening recessive; ataxia; mutational screening ... See more keywords
Carrier screening for recessive disorders
Sign Up to like & getrecommendations! Published in 2019 at "Nature Reviews Genetics"
DOI: 10.1038/s41576-019-0134-2
Abstract: Technological and other advances over the past decades have led to the discovery of thousands of gene–disease associations for autosomal and X-linked recessive Mendelian disorders. Combined with recent improvements in assessing individual variants in each… read more here.
Keywords: carrier screening; recessive disorders; carrier; screening recessive ... See more keywords