4.2 Article

First Description of a Patient With Vici Syndrome Due to A Mutation Affecting the Penultimate Exon of EPG5 and Review of the Literature

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

Ensembl 2014

Paul Flicek et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Cell Biology

Role of Epg5 in selective neurodegeneration and Vici syndrome

Yan G. Zhao et al.

AUTOPHAGY (2013)

Article Biochemistry & Molecular Biology

Deletion of Autophagy-related 5 (Atg5) and Pik3c3 Genes in the Lens Causes Cataract Independent of Programmed Organelle Degradation

Hideaki Morishita et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Letter Medicine, General & Internal

Autophagy in Human Health and Disease REPLY

Augustine M. K. Choi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Review Pharmacology & Pharmacy

Impairment of autophagy: From hereditary disorder to drug intoxication

Toshihiko Aki et al.

TOXICOLOGY (2013)

Review Medicine, General & Internal

MECHANISMS OF DISEASE Autophagy in Human Health and Disease

Augustine M. K. Choi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Genetics & Heredity

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Andrea Finocchi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Biochemical Research Methods

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes

Tom Kamphans et al.

BIOINFORMATICS (2012)

Article Clinical Neurology

Vici Syndrome Associated With Sensorineural Hearing Loss and Laryngomalacia

Murat Ozkale et al.

PEDIATRIC NEUROLOGY (2012)

Article Genetics & Heredity

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

Jianjun Chen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Review Multidisciplinary Sciences

Autophagy in immunity and inflammation

Beth Levine et al.

NATURE (2011)

Letter Genetics & Heredity

Vici Syndrome Associated With Unilateral Lung Hypoplasia and Myopathy

Mohammed Al-Owain et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Article Genetics & Heredity

Vici Syndrome Associated With Sensorineural Hearing Loss and Evidence of Neuromuscular Involvement on Muscle Biopsy

Verity McClelland et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Article Cell Biology

Inhibition of autophagy in the heart induces age-related cardiomyopathy

Manabu Taneike et al.

AUTOPHAGY (2010)

Article Biochemistry & Molecular Biology

C. elegans Screen Identifies Autophagy Genes Specific to Multicellular Organisms

Ye Tian et al.

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Cell Biology

The Role of Autophagy During Development in Higher Eukaryotes

Sabrina Di Bartolomeo et al.

TRAFFIC (2010)

Article Genetics & Heredity

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

Sebastian Koehler et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Genetics & Heredity

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

Peter N. Robinson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Review Multidisciplinary Sciences

Autophagy fights disease through cellular self-digestion

Noboru Mizushima et al.

NATURE (2008)

Article Biochemistry & Molecular Biology

The role of autophagy in cardiomyocytes in the basal state and in response to hemodynamic stress

Atsuko Nakai et al.

NATURE MEDICINE (2007)

Article Genetics & Heredity

Sibling cases of Vici syndrome: Sleep abnormalities and complications of renal tubular acidosis

Rie Miyata et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Genetics & Heredity

Sister and brother with Vici syndrome: Agenesis of the corpus callosum, albinism, and recurrent infections

T Chiyonobu et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)