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Erlin1 Mutations Cause Teenage-Onset Slowly Progressive Als In A Large Turkish Pedigree
(Nature Publishing Group, 2018)
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to ...
Homozygosity Mapping And Targeted Genomic Sequencing Reveal The Gene Responsible For Cerebellar Hypoplasia And Quadrupedal Locomotion In A Consanguineous Kindred
(Cold Spring Harbor Lab Press, Publications Dept, 2011)
The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely ...