Associated Papers
REEP4 variant analysis in blepharospasm and other neurological disorders.
Saeirad S et al.
Dystonia (lausanne, Switzerland), 2024
Blepharospasm: A genetic screening study in 132 patients.
Hammer M et al.
Parkinsonism & Related Disorders, 2019
A role for TENM1 mutations in congenital general anosmia.
Alkelai A et al.
Clinical Genetics, 2016
27040985 (PubMed )
Supplement: supplement_1.pdf
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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