Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature

(2016) Katherine Huenerberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Aberrant splicing induced by the most commonEPG5mutation in an individual with Vici syndrome

(2016) Megan S. Kane et al.   BRAIN

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

(2016) Susan Byrne et al.   BRAIN

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux

(2016) Atsushi Fujita et al.   JOURNAL OF HUMAN GENETICS

The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes

(2016) Zheng Wang et al.   MOLECULAR CELL

Vici syndrome in siblings born to consanguineous parents

(2015) Sener Tasdemir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

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

KIF1A mutation in a patient with progressive neurodegeneration

(2014) Nobuhiko Okamoto et al.   JOURNAL OF HUMAN GENETICS

Ophthalmologic Features of Vici Syndrome

(2014) Francis M. Filloux et al.   JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS

201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The Netherlands

(2014) Luciano Merlini et al.   NEUROMUSCULAR DISORDERS

Role ofEpg5in selective neurodegeneration and Vici syndrome

(2013) Yan G. Zhao et al.   Autophagy

Mice deficient inEpg5exhibit selective neuronal vulnerability to degeneration

(2013) Hongyu Zhao et al.   JOURNAL OF CELL BIOLOGY

The autophagosome: origins unknown, biogenesis complex

(2013) Christopher A. Lamb et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

(2013) Xinzhong Li et al.   PLoS One

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

The Role of Atg Proteins in Autophagosome Formation

(2011) Noboru Mizushima et al.   Annual Review of Cell and Developmental Biology

Autophagy in Lysosomal Myopathies

(2011) May Christine V. Malicdan et al.   BRAIN PATHOLOGY

Core Myopathies

(2011) Heinz Jungbluth et al.   Seminars in Pediatric Neurology

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

Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients

(2008) Chayim Can Schell-Apacik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE