Complete primary structure of human histocompatibility antigen HLA-B7: evolutionary and functional implications

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2017

A role for TENM1 mutations in congenital general anosmia.

Clinical genetics·2016

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Clinical genetics·2015

Evidence for an interaction of schizophrenia susceptibility loci on chromosome 6q23.3 and 10q24.33-q26.13 in Arab Israeli families.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics·2009

Differential effects of Usp14 and Uch-L1 on the ubiquitin proteasome system and synaptic activity.

Molecular and cellular neurosciences·2008