Condition: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)


rs1563130387 in SYNE1 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) PMID 28687974 2017 SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey.

PMID 23959263 2013 SYNE1 mutations in autosomal recessive cerebellar ataxia.

PMID 17159980 2007 Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

PMID 23325900 2013 Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease.