Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation-Reference-Cited by-同舟云学术

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

Published:2013-02-27 Issue:11 Volume:21 Page:1232-1239
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Dias Cristina,McDonald Allison,Sincan Murat,Rupps Rosemarie,Markello Thomas,Salvarinova Ramona,Santos Rui F,Menghrajani Kamal,Ahaghotu Chidi,Sutherland Darren P,Fortuno Edgardo S,Kollmann Tobias R,Demos Michelle,Friedman Jan M,Speert David P,Gahl William A,Boerkoel Cornelius F

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201320.pdf

Reference44 articles.

1. Phelan J, Lowe L, Glasier C : Pediatric neurodegenerative white matter processes: leukodystrophies and beyond. Pediatr Radiol 2008; 38: 729–749.

2. Fernandes J, Saudubray J-M, Gvd Berghe, Walter JH (eds): Inborn Metabolic Diseases: Diagnosis and Treatment. Heidelberg, DEU, Germany: Springer, London, Ltd., 2006.

3. Schlüter A, Espinosa L, Fourcade S et al: Functional genomic analysis unravels a metabolic-inflammatory interplay in adrenoleukodystrophy. Hum Mol Genet 2011; 21: 1062–1077.

4. Glass CK, Saijo K, Winner B, Marchetto MC, Gage FH : Mechanisms underlying inflammation in neurodegeneration. Cell 2010; 140: 918–934.

5. Amor S, Puentes F, Baker D, Van Der Valk P : Inflammation in neurodegenerative diseases. Immunology 2010; 129: 154–169.

Cited by 19 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. PRF1 as a prognostic gene for lymphatic metastasis in skin melanoma;Biochemical and Biophysical Research Communications;2024-11

2. Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis—the initial phenotype of PRF1 gene mutation;Frontiers in Immunology;2023-12-11

3. Familial hemophagocytic phohistiocytosis induced by PRF1 mutation with neurologic manifestations as the initial clinical presentations: A case report;Medicine;2023-06-30

4. Familial Hemophagocytic Lymphohistiocytosis (Type 2) with solitary neurological presentation due to PRF1 gene mutation;IP International Journal of Medical Paediatrics and Oncology;2022-10-15

5. Neuroinflammation Associated With Inborn Errors of Immunity;Frontiers in Immunology;2022-01-19