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5 in total

1. Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.

Authors: A Deik; B Johannes; J C Rucker; E Sánchez; S E Brodie; E Deegan; K Landy; Y Kajiwara; S Scelsa; R Saunders-Pullman; C Paisán-Ruiz
Journal: J Neurol Date: 2014-09-30 Impact factor: 4.849

Review 2. Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.

Authors: A A Tarnutzer; C Gerth-Kahlert; D Timmann; D I Chang; F Harmuth; P Bauer; D Straumann; M Synofzik
Journal: J Neurol Date: 2014-10-31 Impact factor: 4.849

3. Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge.

Authors: Paula Salgado; Rui Carvalho; Ana Filipa Brandão; Paula Jorge; Cristina Ramos; Daniel Dias; Isabel Alonso; Marina Magalhães
Journal: eNeurologicalSci Date: 2018-11-22

4. Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.

Authors: Junyu He; Xin Liu; Liyi Liu; Shaohao Zeng; Shuanghong Shan; Zhihong Liao
Journal: Front Genet Date: 2022-02-07 Impact factor: 4.599

5. A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.

Authors: Ruizhi Zheng; Yaguang Zhao; Jiayu Wu; Yuanmei Wang; Jian-Ling Liu; Zhi-Ling Zhou; Xiao-Tao Zhou; Dan-Na Chen; Wei-Hua Liao; Jia-Da Li
Journal: Mol Med Rep Date: 2018-05-03 Impact factor: 2.952

5 in total