Associated Papers
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.
Viertauer S et al.
Journal of Neurology, 2022
Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.
He J et al.
Frontiers in Genetics, 2022
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.
Doğan M et al.
Ophthalmic Genetics, 2021
Novel variants in PNPLA6 causing syndromic retinal dystrophy.
Wu S et al.
Experimental Eye Research, 2021
Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.
Tarnutzer AA et al.
Journal of Neurology, 2015
Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
Deik A et al.
Journal of Neurology, 2014
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
Synofzik M et al.
Brain : a Journal of Neurology, 2014
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