Associated Papers
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
Panjeshahi S et al.
Human Genetics, 2023
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
Berkovic SF et al.
Brain : a Journal of Neurology, 2019
Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
Faruq M et al.
Clinical Genetics, 2014
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