Disease: Cerebellar ataxia ectodermal dysplasia
- A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia
- Ataxia telangiectasia, Menkes kinky hair disease and neurocutaneous melanosis
- Atypical form of telangiectatic familial neuroectodermal dysplasia with cerebellar syndrome
- Cerebellar ataxia and ectodermal dysplasia in brothers
- Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome
- Cowden disease with Lhermitte-Duclos disease: case report
- Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
- DNA damage-induced signalling in ataxia-telangiectasia and related syndromes
- Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia
- FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome
- Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies
- Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci
- Hereditary ectodermal dysplasia with anhidrosis and cerebellar heredoataxia manifested as Friedreich's disease
- Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism
- MRI of the brain in the evaluation of children with developmental delay
- Neuro-ophthalmic features of the neurocutaneous syndromes
- Neurocutaneous disorders
- Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
- Neuroectomesodermal dysplasias (phacomatoses): clinical and epidemiological problems
- Re-evaluation of CHANDS
- Rhomboencephalosynapsis: Review of the Literature
- Spinocerebellar ataxia and hypergonadotropic hypogonadism associated with familial sensorineural hearing loss
- The genetics of human hair growth