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
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
PNPLA6-Related Disorder with Levodopa-Responsive Parkinsonism.
Kazanci S et al.
Movement Disorders Clinical Practice, 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
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
Hufnagel RB et al.
Journal of Medical Genetics, 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
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
Yoon G et al.
Neurogenetics, 2013
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