Literature DB >> 30097146

A new PNPLA6 mutation presenting as Oliver McFarlane syndrome.

O Patsi1, C De Beaufort2, P Kerschen3, S Cardillo4, A Soehn5, M Rautenberg5, N J Diederich3.   

Abstract

Entities:  

Keywords:  Cerebellar ataxia; Chorioretinal dystrophy; Multiple pituitary deficits; Oliver McFarlane syndrome; PNPLA6 mutation; Polyneuropathy

Mesh：

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Year:  2018        PMID： 30097146     DOI： 10.1016/j.jns.2018.06.016

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  4 in total

Review 1.  PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases.

Authors:  Doris Kretzschmar
Journal:  Metabolites       Date:  2022-03-24

2.  Novel variants in PNPLA6 causing syndromic retinal dystrophy.

Authors:  Shijing Wu; Zixi Sun; Tian Zhu; Richard G Weleber; Paul Yang; Xing Wei; Mark E Pennesi; Ruifang Sui
Journal:  Exp Eye Res       Date:  2020-10-22       Impact factor: 3.467

3.  Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

Authors:  Lorenzo Nanetti; Daniela Di Bella; Stefania Magri; Mario Fichera; Elisa Sarto; Anna Castaldo; Alessia Mongelli; Silvia Baratta; Silvia Fenu; Marco Moscatelli; Maria Teresa Bonati; Andrea Martinuzzi; Caterina Mariotti; Franco Taroni
Journal:  Front Neurol       Date:  2022-01-06       Impact factor: 4.003

4.  Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction.

Authors:  Pavel A Melentev; Eduard G Sharapenkov; Nina V Surina; Ekaterina A Ivanova; Elena V Ryabova; Svetlana V Sarantseva
Journal:  Insects       Date:  2021-12-22       Impact factor: 2.769
  4 in total

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