PIGA mutations cause early-onset epileptic encephalopathies and distinctive features-Reference-Cited by-同舟云学术

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PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

Published:2014-04-04 Issue:18 Volume:82 Page:1587-1596
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Kato M.,Saitsu H.,Murakami Y.,Kikuchi K.,Watanabe S.,Iai M.,Miya K.,Matsuura R.,Takayama R.,Ohba C.,Nakashima M.,Tsurusaki Y.,Miyake N.,Hamano S.-i.,Osaka H.,Hayasaka K.,Kinoshita T.,Matsumoto N.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 95 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. Identification ofCNTN2as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing inDrosophila;2024-08-12

2. Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern;Genes;2024-06-18

3. The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders;Brain;2024-03-08

4. AAV-based gene therapy ameliorated CNS-specific GPI defect in mouse models;Molecular Therapy - Methods & Clinical Development;2024-03

5. Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation;Neuropediatrics;2024-01-05

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