Identification of a DLG3 stop mutation in the MRX20 family
Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 317-323
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Source
Scientific reports - ISSN 2045-2322-11:1 (2021) p.
Reduced serum levels of pro-inflammatory chemokines in fragile X syndrome
Source
BMC neurology - ISSN 1471-2377-20:1 (2020) p. 1-12
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment
Source
European journal of human genetics - ISSN 1018-4813-26:4 (2018) p. 587-591
Global investigation and meta-analysis of the C9orf72 $(G_{4}C_{2})_{n}$ repeat in Parkinson disease
Source
Neurology - ISSN 0028-3878-83:21 (2014) p. 1906-1913