Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge-Reference-Cited by-同舟云学术

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Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge

Published:2019-03 Issue: Volume:14 Page:9-12
ISSN:2405-6502
Container-title:eNeurologicalSci
language:en
Short-container-title:eNeurologicalSci

Author:

Salgado Paula^ORCID,Carvalho Rui,Brandão Ana Filipa,Jorge Paula,Ramos Cristina,Dias Daniel,Alonso Isabel,Magalhães Marina

Publisher

Elsevier BV

Subject

Neurology

Reference10 articles.

1. Pure cerebellar ataxia with homozygous mutations in the PNPLA6 gene;Wiethoff;Cerebellum,2017

2. Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature;Tarnutzer;J. Neurol.,2015

3. Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia;Deik;J. Neurol.,2014

4. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes;Hufnagel;J. Med. Genet.,2015

5. Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome;Topaloglu;J. Clin. Endocrinol. Metab.,2014

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders;Brain;2024-05-13

2. Neuropathy target esterase activity predicts retinopathy amongPNPLA6disorders;2023-06-11

3. PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases;Metabolites;2022-03-24

4. Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome;Journal of Molecular Neuroscience;2022-01-28

5. Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature;Frontiers in Neurology;2022-01-06

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