Literature DB >> 21205700

Dominant encephalopathy mimicking mitochondrial disease.

T Lönnqvist1, P Isohanni, L Valanne, T Olli-Lähdesmäki, A Suomalainen, H Pihko.   

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Year:  2011        PMID： 21205700     DOI： 10.1212/WNL.0b013e318203e908

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  9 in total

1.  Selective impairment of a subset of Ran-GTP-binding domains of ran-binding protein 2 (Ranbp2) suffices to recapitulate the degeneration of the retinal pigment epithelium (RPE) triggered by Ranbp2 ablation.

Authors:  Hemangi Patil; Arjun Saha; Eugene Senda; Kyoung-in Cho; MdEmdadul Haque; Minzhong Yu; Sunny Qiu; Dosuk Yoon; Ying Hao; Neal S Peachey; Paulo A Ferreira
Journal:  J Biol Chem       Date:  2014-09-03       Impact factor: 5.157

2.  Inverted low-copy repeats and genome instability--a genome-wide analysis.

Authors:  Piotr Dittwald; Tomasz Gambin; Claudia Gonzaga-Jauregui; Claudia M B Carvalho; James R Lupski; Paweł Stankiewicz; Anna Gambin
Journal:  Hum Mutat       Date:  2012-10-11       Impact factor: 4.878

Review 3.  Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease.

Authors:  Ramona Jühlen; Birthe Fahrenkrog
Journal:  Histochem Cell Biol       Date:  2018-10-25       Impact factor: 4.304

4.  Acute Hemorrhagic Encephalitis Responding to Combined Decompressive Craniectomy, Intravenous Immunoglobulin, and Corticosteroid Therapies: Association with Novel RANBP2 Variant.

Authors:  Abdulla Alawadhi; Christine Saint-Martin; Farhan Bhanji; Myriam Srour; Jeffrey Atkinson; Guillaume Sébire
Journal:  Front Neurol       Date:  2018-03-12       Impact factor: 4.003

Review 5.  Roles of Nucleoporin RanBP2/Nup358 in Acute Necrotizing Encephalopathy Type 1 (ANE1) and Viral Infection.

Authors:  Jing Jiang; Yifan E Wang; Alexander F Palazzo; Qingtang Shen
Journal:  Int J Mol Sci       Date:  2022-03-24       Impact factor: 5.923

6.  Neuroimaging and neurological outcome of children with acute encephalitis.

Authors:  Heidi M Pöyhönen; Mikko J Nyman; Ville T Peltola; Eliisa S Löyttyniemi; Tuire T Lähdesmäki
Journal:  Dev Med Child Neurol       Date:  2022-05-08       Impact factor: 4.864

7.  Distinct and atypical intrinsic and extrinsic cell death pathways between photoreceptor cell types upon specific ablation of Ranbp2 in cone photoreceptors.

Authors:  Kyoung-In Cho; Mdemdadul Haque; Jessica Wang; Minzhong Yu; Ying Hao; Sunny Qiu; Indulekha C L Pillai; Neal S Peachey; Paulo A Ferreira
Journal:  PLoS Genet       Date:  2013-06-20       Impact factor: 5.917

8.  Neuro-ophthalmological consequences of acute influenza A encephalitis in a genetically predisposed child.

Authors:  Catarina Xavier; Miguel Boncquet Vieira; Cristina Ferreira; Joana Tavares Ferreira
Journal:  BMJ Case Rep       Date:  2020-09-14

Review 9.  Genetic causes of acute encephalopathy in adults: beyond inherited metabolic and epileptic disorders.

Authors:  Dimitrios Parissis; Maria Dimitriou; Panagiotis Ioannidis
Journal:  Neurol Sci       Date:  2022-01-22       Impact factor: 3.830
  9 in total

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