标题
Vici syndrome: a review
作者
关键词
Hemophagocytic Lymphohistiocytosis, Autophagy Pathway, Bacterial Conjunctivitis, Callosal Agenesis, Danon Disease
出版物
Orphanet Journal of Rare Diseases
Volume 11, Issue 1, Pages -
出版商
Springer Nature
发表日期
2016-02-29
DOI
10.1186/s13023-016-0399-x
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Vici syndrome in siblings born to consanguineous parents
- (2015) Sener Tasdemir et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Severe Central Sleep Apnea in Vici Syndrome
- (2015) K. El-Kersh et al. PEDIATRICS
- Pathological changes in cardiac muscle and cerebellar cortex in Vici syndrome
- (2014) Rie Miyata et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon ofEPG5and review of the literature
- (2014) Nadja Ehmke et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Ophthalmologic Features of Vici Syndrome
- (2014) Francis M. Filloux et al. JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
- Pathogenic Mechanisms in Centronuclear Myopathies
- (2014) Heinz Jungbluth et al. Frontiers in Aging Neuroscience
- VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
- (2013) Nivetha Ramachandran et al. ACTA NEUROPATHOLOGICA
- Autophagy and human diseases
- (2013) Peidu Jiang et al. CELL RESEARCH
- Mice deficient inEpg5exhibit selective neuronal vulnerability to degeneration
- (2013) Hongyu Zhao et al. JOURNAL OF CELL BIOLOGY
- Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
- (2013) Laura Dotta et al. Orphanet Journal of Rare Diseases
- Guidelines for the use and interpretation of assays for monitoring autophagy
- (2012) Daniel J. Klionsky et al. Autophagy
- Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
- (2012) Thomas Cullup et al. NATURE GENETICS
- Vici Syndrome Associated With Sensorineural Hearing Loss and Laryngomalacia
- (2012) Murat Özkale et al. PEDIATRIC NEUROLOGY
- Vici syndrome-A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
- (2011) Edith Said et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Immunodeficiency in Vici syndrome: A heterogeneous phenotype
- (2011) Andrea Finocchi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Autophagy in Lysosomal Myopathies
- (2011) May Christine V. Malicdan et al. BRAIN PATHOLOGY
- Autophagy: Renovation of Cells and Tissues
- (2011) Noboru Mizushima et al. CELL
- Vici syndrome associated with unilateral lung hypoplasia and myopathy
- (2010) Mohammed Al-Owain et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
- (2010) Verity McClelland et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- C. elegans Screen Identifies Autophagy Genes Specific to Multicellular Organisms
- (2010) Ye Tian et al. CELL
- Centronuclear (myotubular) myopathy
- (2008) Heinz Jungbluth et al. Orphanet Journal of Rare Diseases
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