Associated Papers
Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Amprosi M et al.
Journal of Neurology, 2026
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
41152957 (PubMed )
Supplement: 40035_2025_516_MOESM3_ESM.xlsx › TableS2b_pathogenic_URVs
BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME.
Adeghate JO et al.
Retinal Cases & Brief Reports, 2025
Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.
Xiao P et al.
Frontiers in Genetics, 2025
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J et al.
Brain : a Journal of Neurology, 2024
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J et al.
Biorxiv : the Preprint Server for Biology, 2023
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.
van Eyk CL et al.
Npj Genomic Medicine, 2021
Oliver McFarlane syndrome: two new cases and a review of the literature.
Lisbjerg K et al.
Ophthalmic Genetics, 2021
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
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
Zheng R et al.
Molecular Medicine Reports, 2018
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
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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