Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

(2011) D. Cheishvili et al.   HUMAN MOLECULAR GENETICS

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

(2011) Christopher J Klein et al.   NATURE GENETICS

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

(2010) Richard W. Groves et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Elongator Controls the Migration and Differentiation of Cortical Neurons through Acetylation of α-Tubulin

(2009) Catherine Creppe et al.   CELL

Diagnosis and new treatments in genetic neuropathies

(2009) M M Reilly et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS